Neurology Boards

Front 1

tactile sensation anterior 2/3 of tongue

Back 1

trigeminal nerve

Front 2

taste posterior 1/3 of tongue

Back 2

glossopharyngeal nerve

Front 3

parasympathetics to head/neck

Back 3

superior salivatory nucleus

Front 4

motor nuclei to pharyngeal/laryngeal muscles

Back 4

nucleus ambiguous

Front 5

innervation to parotid gland by the glossopharyngeal nerve

Back 5

inferior salivatory nucleus

Front 6

nuclei for taste sensation

Back 6

rostral nuclei solitarius

Front 7

nuclei for baroreceptor reflex

Back 7

caudal nuclei solitariu

Front 8

nuclei for parasympathetic output to chest

Back 8

dorsal motor nucleus of vagus

Front 9

corneal reflex

Back 9

afferent: V

efferent: VII

Front 10

gag reflex

Back 10

afferent: glossopharyngeal

efferent: vagus

Front 11

fourth nerve palsy

Back 11

contralateral head tilt

Front 12

cocaine eye drops

Back 12

confirmation of Horners (no change in size of Horners pupil/unaffected side dilates)

Front 13

Hydroxyamphetamine eye drops

Back 13

Horner's pupil dilates, first or second order (if it doesn't dilate then it is a third order lesion)

Front 14

Aproclonidine

Back 14

alpha-agonist-Horners pupil is supersensitive 2/2 down regulation of recptors and thus there is constriction of the Horners pupil and reversal of the anisocoria

Front 15

trochlear nerve

Back 15

exits dorsally, innervates the superior oblique which depresses and intorts the eye, head tilt c/l

Front 16

INO

Back 16

impaired adduction of the affected side and nystagmus in the nl eye

Front 17

b/l INO

Back 17

2/2 b/l MLF which will cause extropia (known as "wall-eyed bilateral INO"

Front 18

One and a half syndrome

Back 18

lesion to both the ipsilateral abducens nucleus or PPRF and ipsilateral MLF (results in loss of all horizontal eye movements on that side and abduction of the c/l eye is the only lateral eye movement retained)

Front 19

APD combined with c/l hemianopia

Back 19

optic tract lesion

Front 20

Nystagmus in BPPV

Back 20

slow drift of the eyes toward the affected side and away from the unaffected side followed by a fast cortical correction to the opposite side (toward the unaffected side)---nystagmus is c/l

Front 21

otolithic organs

Back 21

saccule and utricle (hair cells overlain by otolithic membrane covered by calcium carbonate particles); detect linear movement

Front 22

semicircular canals

Back 22

contain endolymph and an ampulla (contains sensory hair cells which are embedded in a gelatinous cap termed the cupula ---w/o otoconia); angular motions

Front 23

anterior belly of the digastric, medial and lateral pterygoids, masseter, deep temporal, mylohyoid, tensor veli palatine and tensor typani

Back 23

trigeminal nerve

Front 24

only muscle innervated by the glossopharyngeal nerve

Back 24

stylopharyngeus muscle

Front 25

facial nerve course

Back 25

motor + nervus intermedius>geniculate ganglion>lacrimal and mucosal glands>chorda tympani nerve (causes hyperacusis if injured)>anterior 2/3 of tongue

Front 26

cornea sensory innervation

Back 26

V1: upper half of cornea

V2: lower half of cornea

Front 27

Hypoglossal nerve injury

Back 27

UMN (b/c projections from cortical nerves project to the c/l hypoglossal nucleus): c/l tongue deviation

LMN: I/l tongue deviation

Front 28

I/l third nerve palsy and c/l hemiplegia

Back 28

Weber's syndrome (midbrain)

Front 29

I/l third nerve and c/l involuntary movements

Back 29

Benedikt's syndrome (ventral portion of mesencephalic tegmentum involving the red nucleus)

Front 30

I/l third nerve and c/l ataxia/tremor

Back 30

Claude's syndrome (dorsal portion of mesencephalic tegmentum)

Front 31

I/l sixth and seventh nerve palsies with c/l hemiplegia

Back 31

Millard-Gubler lesion (lesion in the pons)-if with conjugate gaze paralysis toward the lesion it is called Foville

Front 32

limited upward gaze, convergence retraction nystagmus, light near dissociation, lid retraction and skew deviation

Back 32

Parinaud's (quadrigeminal plate)

Front 33

Gerstmann's

Back 33

finger agnosia, r/l disorientation, agraphia and acalculia

Front 34

recurrent artery of heubner

Back 34

deep branch of ACA that supplies anterior limb of internal capsule , inferior part of head of the caudate and anterior GP

Front 35

clumsy hand dysarthria

Back 35

c/l paramedian pons or posterior limb of internal capsule

Front 36

ataxic hemiparesis

Back 36

pons, midbrain, internal capsule

Front 37

dilated thin-walled vessels with no smooth muscle or elastic fibers and no intervening brain parenchyma

Back 37

cavernous malformation

Front 38

thin-walled venous structure with normal intervening brain tissue

Back 38

venous angioma

Front 39

abnormally dilated capillaries, normal intervening brain tissue

Back 39

capillary telangiectasia

Front 40

hypertensive hemorrhage

Back 40

putamen, caudate, thalamus, pons, cerebellum and deep white matter

Front 41

retinal artery origin

Back 41

ICA>ophthalmic artery>retinal artery

Front 42

anterior choroidal artery

Back 42

ICA origin, supplies internal segment of the GP and posterior limb of the internal capsule

Front 43

BP with tPA

Back 43

<185/110

Front 44

surgery with tPA

Back 44

major surgery w/in the prior 14days

Front 45

nl CT with ASPECTs

Back 45

10

Front 46

symptomatic stenosis 50-69%

Back 46

benefit from CEA with greater impact in men vs women

Front 47

cavernous sinus drainage

Back 47

superior and inferior petrosal sinuses>sigmoid sinus

Front 48

MRI hemorrhage

Back 48

0-24-iso T1 hyper T2

1-3d-iso T1 hypo T2

3-7d-hyper T1 hypo T2

1w-1mn-hyper on T1 and T2

afterward hypo T1 and hypo T2

Front 49

Wave form with ICP

Back 49

lundberg A waves or plateau waves

; 5-20 minutes with high amplitude 50-100mmHg

Front 50

Apneustic breathing

Back 50

pontine lesion (respiratory pause at full inspiration

Front 51

decorticate posture

Back 51

above the red nucleus (disinhibition of the red nucleus with facilitation of the rubrospinal tracts and vestibulospinal tracts)

flexion of the upper extremities and exension of the lower extremities

Front 52

decerebrate posture

Back 52

lesion between the red nucleus and the vestibular nucleus

Front 53

hyperventilation

Back 53

hypocapnia leads to vasoconstriction; goal of 30mmHg of PCO2

Front 54

serum osm goal with mannitol

Back 54

320mOsm/L

Front 55

hypertonic saline goal

Back 55

150mmol/L

Front 56

maximal cerebral edema

Back 56

2-5 days post stroke

Front 57

sodium nitroprusside

Back 57

continuous infusion can lead to cyanide and thiocyanate toxicity (causing anxiety, confusion, pupillary constriction, tinnitus, hallucinations and seizures); Tx dialysis

Front 58

epidural hematoma

Back 58

middle meningeal artery; foramen spinosum

Front 59

nimodipine s/p SAH

Back 59

60mg q4hrs for 21 days has been shown to improve outcomes (as has pravastatin)

Front 60

Indications for ventilation with GBS

Back 60

VC<15-20mL/kg or reduction of >30% from baseline OR NIF less than 30

Front 61

critical illness polyneuropathy

Back 61

nl latency and conduction velocity; reduced CMAP and SNAP with myopathic motor unit potentials; myosin loss on path

Front 62

best predictor of prognosis after cardiac arrest

Back 62

N20 SSEP (also with absent pupillary response at 24-72hrs or no corneal/eye movement in 72hrs)

Front 63

apnea test

Back 63

preoxygenated for 10min with 100% FiO2; baseline ABG should have a pCO2 between 35-45mmHg>ventilator d/c with O2 at 6L and observed for 10 minutes for chest/abdomen rise>if no movements and PCO2 on ABG is >60 the test is positive

Must have temp >32 and SBP>90

Front 64

MAP

Back 64

CPP=MAP-ICP (most effective 60-159mm Hg)

Front 65

bilateral trigeminal neuralgia

Back 65

MS, sarcoid, lyme

Front 66

CADASIL

Back 66

AD, chrom 19, NOTCH3

Front 67

FHM1

Back 67

AD, chrom 19p13, CACNA1gene; defective P/Q calcium channel

nystagmus, coma or hemiplegia

Front 68

FHM2

Back 68

AD, chrom 1q23, ATP1A2 gene, defective A1A2 sodium potassium ATPase channel

coma, long lasting hemiplegia, sz, MR (NOT associated with ataxia)

Front 69

FHM3

Back 69

AD, chrom 2q4, SCN1A, defective pre- and post-synaptic voltage gate sodium channels

Front 70

tension HA

Back 70

30min-7d; bilateral, pressure/tightening; mild-mod pain not worse with physical activity; no n/v no more than one of photo/phono

Front 71

migraine pathophys

Back 71

spreading depression>activatin of central generator>ion homostasis disrupted>blood vessel dilation >vasoactive neuropeptide lead to inflammation>worsen vasodilation>pain signals to trigeminal nuceus caudalis

Front 72

triptan receptors

Back 72

5HT-1B (constricts the vessels) and 5HT-1D (inhibits trigeminal peptide release)

Front 73

New Persistent Daily HA

Back 73

daily, unremitting for >3mnths, with 2 of 4 of;

b/l location

pressure/tightening

mild-mod intensity

not worse with activity

Front 74

cluster HA time

Back 74

15-180min

Front 75

paroxysmal hemcrania

Back 75

2-30 min of severe unilateral pain; Tx: indomethacin

Front 76

Chiari I

Back 76

>4mm of tonsillar decent in those 30-80yrs

Front 77

low CSF pressure

Back 77

HA w/in 15 min of sitting/standing with at least one of;

CSF leak on conventional myelogram, CT myelograpy o CSF OP<60mm in a sitting posiio

Front 78

frovatriptan

Back 78

1/2 life f 26hrs (but slower onset of action)

Front 79

Doose syndrome

Back 79

myoclonic astatic epilepsy; 1-5 yrs; irregular 2- to 3-Hz spike and wave

Front 80

Dravet syndrome

Back 80

severe myoclonic epilepsy of infancy; typical initial presentation is with febrile seizures; DD is a rule; multiple seizure types

Front 81

Otahara syndrome

Back 81

early infantile epileptic encephalopathy; 1d-3mnths; tonic spasms with an EEG with burst suppresion

Front 82

West syndrome

Back 82

infantile spasms, hypsarrhythmia, MR

Front 83

Landau-Kleffner syndrome

Back 83

epilepsy with multiple seizure types and acquired aphasia

Front 84

EPM1

Back 84

Unverricht Lundborg syndrome

Front 85

Cystatin B

Back 85

Unverricht Lundborg syndrome

Front 86

EPM2A

Back 86

Lafora body disease

Front 87

PME and cherry red spot

Back 87

Sialidosis

Front 88

PME and mitochondrial disease

Back 88

Myoclonic epilepsy with ragged red fibers

Front 89

Glutamate-3 receptor antibodies

Back 89

Rasmussen's

Front 90

alpha

Back 90

8-13Hz

Front 92

Narcolepsy

Back 92

low hypocretin

Front 93

Febrile seizures

Back 93

5mnth-5yr (3-5% of children), Simple <15min w/o focality

Front 94

Absence epilepsy

Back 94

Peaks around 6yrs, girls>boys

Front 95

Benign childhood epilepsy with centrotemporal spikes

Back 95

2-13yrs; 70% of sz in sleep; independent b/l broad centrotemporal spikes; AD with variable penetrance

Front 96

Hypsarrhythmia

Back 96

interictal high-amplitude slow waves on a background of irregular multifocal spikes (will disappear ictally during a cluster or during REM)

Front 97

Adding valproate to lamictal

Back 97

may necessitate an immediate 50% dosage reduction

Front 99

OCPs and AEDs

Back 99

increase lamictal clearance

Front 100

Aicardi syndrome

Back 100

X-linked dominant; infantile spasm, chorioretinal lacunae and agenesis of the corpus callosum

Front 101

Benign myoclonic epilepsy of infancy

Back 101

female predominance, 4mn-3yrs, myoclonic sz that are easily treatable

Front 102

benign neonatal sz

Back 102

around the 5th day of life, EEG is usually normal, resolve around 4 to 6wks; KCNQ channel is implicated

Front 103

Panayiotopoulos

Back 103

1- 3-Hz high voltage occipital spikes which disappear with eye opening and reappear with eye closure or darkness; sz with visual manifestations

Front 104

ESES

Back 104

1-12yrs, psychomotor retardation and multiple seizure types, status epilepticus during sleep for >85% of slow wave sleep

Front 105

Unverricht Lunborg syndrome

Back 105

myoclonic epilepsy with various seizure types and generalized spie and wave

EPM1 cystatin

Front 106

Sialidosis

Back 106

myoclonic epilepsy, cherry red spot, AR with defect in NEU1 gene

Front 107

Lafora bodies

Back 107

PAS positive intracellular polyglucosan inclusion bodies found in neurons, cardiac muscle, skeletal muscle, hepatocytes and sweat gland cells

AR disease with EPM2A mutation

Sz of varioius tpes including myoclonus, dysarthria, ataxia and cognitive decline

Front 108

Drug absorption in the elderly

Back 108

lower gastric acidity (weakly basic drugs are less easily absorbed)

decreased lean body mass (volume of distribution of hydrophilic drugs is smaller)

fat decreases

Front 109

triphasic waves

Back 109

small negative (upward) wave, prominent positive (downward) wave and final negative wave

Front 110

circadian pacemaker

Back 110

suprachiasmatic nucleus in the anterior hypothalamus

Front 111

sleep terrors

Back 111

non-REM parasomnia, occur in the first 1/3 of the night

Front 112

Arousal d/o

Back 112

confusional arousals, sleepwalking and sleep terrors (non-REM parasomnia) arising from SWS or stage III

Front 113

Kleine-Levin syndrome

Back 113

recurrent episodes of hypersomnia occurring weeks to months apart (lasting days to weeks)

Front 114

Direct pathway

Back 114

Overall excitatory

Front 115

Indirect pathway

Back 115

Overall inhibitory

Front 116

Hyperkinetic movement d/o

Back 116

Reduced activity of the indirect pathway (reduced activity of the indirect pathway which disinhibits the thalamus leading to increased activity)

Front 117

Hypokinetic movement d/o

Back 117

reduced activity of the direct pathway (SNc degenerates in PD reducing activity which leads to a reduced excitation of the direct pathway and reduced inhibition of the indirect pathway)

Front 118

MOA of ropinirole and pramipexole

Back 118

dopamine agonist at D2 and D3

Front 119

MOA of dopamine

Back 119

dopamine precursor converted into dopamine by dopa-decarboxylase

Front 120

Most common gene mutated in herediatory PD

Back 120

leucine-rick repeat kinase 2 (LLRK2)

Front 121

neuroacanthocytosis

Back 121

tongue-protrusion dystonia, chorea, acanthocytes on wet mount

Front 122

HD

Back 122

chrom 4, CAG expansion

Front 123

Torsin A mutation

Back 123

primary generalized dystonia, AD, chrom 9, DYT1 dystonia

Front 124

Filipino with dysonia and PD

Back 124

DYT3, lubag, X-linked dystonia-parkinsonism

Front 125

DRD genetics

Back 125

AD, GTP cyclohydrolase 1 on chrom 14

Front 126

Episodes of ataxia and facial twitching; diagnosis/gene/triggers/treatment

Back 126

Episodic ataxia type 1; KCN1A, triggers exercise, startle Tx AEDs such as CBZ

Myokymia on EMG

Front 127

Episodes of ataxia with nystagmus and dysarthria

Back 127

Episodic ataxia type II, CACN1A4, Triggers: EtOH, stress and fatigue, Tx: acetazolamide

Front 128

Neurotransmitter in hyperekplexia

Back 128

Glycine

Front 129

Antibodies in stiff person syndrome

Back 129

GAD and anti-amphiphysin (paraneoplastic)

Front 130

High arched feet, scoliosis, neuropathy, ataxia, cardiomegaly

Back 130

Friedreich's ataxia, GAA repeat in frataxin gene on Chrom 9; AR

Front 131

Telangiectasia, ataxia, oculomotor abnormalities, immunodeficiency, hematologic malignancy

Back 131

ataxia-telangiectasia, AR, ATM gene on chrom 11, impaired DNA repair

Front 132

Ataxia with high serum alpha-fetoprotein

Back 132

ataxia-telangiectasia and ataxia with oculomotor apraxia type 2

Front 133

SCA-3 (Machado-Joseph disease)

Back 133

CAG repeat expansion, AD, ataxia, spasticity, neuropathy

Front 134

Ataxia, parkinsonism in grandfather of a boy with fragile X syndrome

Back 134

Fragile X-tremor-ataxia syndrome (FXTAS) from permutation in CGG in FMR1 on chrom X, T2 hyperintensities in cerebellum and inferior cerebellar peduncle

Front 135

ataxia, cataracts, tendon xanthomas

Back 135

cerebrotendinous xanthomatosis, serum cholestanol

Front 136

"Eye of the tiger"

Back 136

hyperintensity surrounded by hypointensity in the basal ganglia, seen in PKAN (pantothnate-kinase-associated neurodegeneration)

Front 137

medication that improves cardiomyopathy in Friedreich's ataxia

Back 137

Idebenone, a coenzyme Q10 analogue

Front 138

striatum

Back 138

caudate and putamen

Front 139

lentiform nucleus

Back 139

putamen and globus pallidus

Front 140

Dopamine receptors in the pituitary gland

Back 140

D2 receptors (activity inhibits prolactin release and thus hyperprolactinemia is seen in pts taking antipsychotics)

Front 141

PET in PD

Back 141

hypometabolism in the putamen

Front 142

iPD tremor

Back 142

lips, chin and jaw

Front 143

iPD rigidity

Back 143

striatal toe (extension of the big toe with flexion of the other toes), camptocormia, striatal hand (ulnar deviation of the wrist with flexion at the MCP joints and extension in the interphalangeal joints)

Front 144

PD pathophysiology

Back 144

Results from the degeneration of the dopaminergic neurons in the substantia nigra pars compacta

Front 145

PARK2

Back 145

AR parkinson's with juvenile onset

Front 146

PARK1

Back 146

AD, young onset

Front 147

amantadine

Back 147

anti-glutamatergic effects, increases presynaptic dopamine release

Front 148

Selegiline

Back 148

MOAB inhibitor which is metabolized to methamphetamine and can lead to insomnia (unlike resagaline which does not have amphetamine like properties)

Front 149

DBS target sites

Back 149

STN, GPi and ventral intermediate

Front 150

Synucleopathies

Back 150

Parkinsons

MSA

Lewy

"PML"

Front 151

hot crossed buns signs

Back 151

MSA, due to loss of pontine neuron and pontocerebellar tracts with intact corticospinal tracts

Front 152

vascular parkinsons

Back 152

most often from multiple lacunes in the basall ganglia (classically affects the lower extremities more than the upper extremities and tremor is not a prominent feature)

Front 153

Maganese toxicity

Back 153

seen in welders, miners, chronic liver disease patients and those on total parenteral nutrition; psychiatric symptoms, parkinsonism (usually w/o tremor) and typical gait with toe walking with elbow flexion "cock walking"

Front 154

ET

Back 154

4-8Hz postural tremor with or without a kinetic component

Front 155

Rubral tremor

Back 155

low-frequency tremor typically presenting at rest with posture and with action; from lesions in the dentate nucleus or cerebellum and/or superior cerebellar peduncle (often seen in MS patients)

Front 156

Tourette's

Back 156

at least one motor and one phonic tic beginning prior to the age of 18

Front 157

Wilson's disease

Back 157

AR d/o of copper metabolism resulting from mutations in the gene encoding copper-transporting P-type ATPase on chromosome 13

Wing beating tremor, characteristic grin

Front 158

MRI in Wilsons

Back 158

increased signal on T2 weighted images of the caudate and putamen as well as midbrain sparing the red nucleus "double panda sign" and thalamus

Front 159

Huntington's clinical features

Back 159

motor impersistence (inability to sustain tongue protrusion), impaired saccades and pursuits with insuppressible head movements during eye movements

Front 160

Sydenham's disease Tx

Back 160

anti-dopamingergic therapies

Front 161

Benign hereditary chorea

Back 161

AD, with chorea and mild gait ataxia (mutation in thyroid transcription factor gene)

Front 162

Neuroacanthocytosis

Back 162

3-4th decade, orolingual dystonia, tongue protrusion dystonia, self-mutilating behavior, cognitive decline, dysarthria, ophthalmoplegia, parkinsonism and behavioral problems

AD, XLR and sporadic forms have been reported

Front 163

Lesch-Nyhan

Back 163

XLR from a mutation in hypoxanthine-guanine phasphoribosyltransferase HGPRT

Hyperuricemia (nephrolithiasis), self mutilating behavior, neuropsychiatric symptoms and chorea, athestosis and rigidity

Front 164

PKAN

Back 164

AR d/o with dystonia, abnl movements and cognitive decline

Front 165

Tx of tardive dyskinesia

Back 165

Clozapine, tetrabenazine or resperpine (deplete dopamine), levodopa, VPA and clonazepam

Front 166

Primary generalized dystonia

Back 166

AD, mutation in torsin A (usually begins in childhood with action-induced limb dystonia that later spreads to involve trunk and other limbs)

Front 167

Lance-Adams syndrome

Back 167

action myoclonus manifesting after HI injury

Front 168

palatal myoclonus

Back 168

dentate, cerebellum, inferior olive and red nucleus (Guillain-Mollaret triangle)

Can see hypertrophy of the inferior olive on MRI

Front 169

Paroxysmal kinesigenic dyskinesias

Back 169

episodes that last seconds-5min, precipitated by sudden movement, startle and hyperventilation

Tx AEDs (CBZ)

Front 170

Paroxysmal nonkinesigenic dyskinesia

Back 170

2min-several hours sometimes with no clear precipitant (though sometimes EtOH or stress can precipitate the d/o); doesn't respond well to AEDs

Front 171

Paroxysmal exertional dyskinesias

Back 171

triggered by prolonged exercise; last 5-30 min

Front 172

episodic ataxia II

Back 172

AD with attacks of ataxia, tinnitus and vertigo

Tx acetazolamide

Front 173

episodic ataxia IV

Back 173

ataxia episodes are associated with ocular motion abnormalities and maybe triggered by sudden head movement

Front 174

purkinje cells

Back 174

main output of the cerebellum with GABA output (project to dentate, emboliform and globose nuclei which then project to the superior cerebellar peduncle>thalamus>cortex>brainstem

Front 175

medications causing cerebellar toxicity

Back 175

cytarabine and 5-flurouracil

Front 176

friedreichs ataxia

Back 176

AR; neuropathy, UMN, ataxia and cerebellar dysfunction, cardiac involvement

GAA repeat in the frataxin gene on chrom 9

Front 177

ataxia telangictasia

Back 177

AR, neuropathy, ataxia and extraocular movement abnormalities characteristically with inability to move the eyes without head thrusting

Front 178

balo's concentric sclerosis

Back 178

form of demyelination with concentric sclerosis may appear as an onion skin lesion on MRI

Front 179

useless hand of oppenheim

Back 179

sensory deafferentation makes the hand feel useless with otherwise normal motor function

Front 180

MS mimics

Back 180

B12, lupus, lyme

Front 181

optic neuritis and MS

Back 181

in a 15yr period MS occurs in ~50% of cases (increased risk with MRI lesions)

Front 182

visual acuity and ON

Back 182

<20/50 did not measurably benefit from treatment with steroids

Front 183

crossed abductors

Back 183

implies spread of the reflex above level L4 into L2/3 indicating disinhibition of the reflex arc

Front 184

CSF with MS

Back 184

may have elevated WBC but usually no more than 50 (usually lymphocytes)

Front 185

hemorrhagic leukoencephalopathy of Weston Hurst

Back 185

immune mediated encephalopathy with areas of hemorrhage often in the temporal lobe (maybe a subform of ADEM)

Front 186

MS and pregnancy

Back 186

Steroid can be used (though should not be given in the first trimester)

Interferons should be stopped at least one month prior to conception

Front 187

Risk of developing MS with an affected family member

Back 187

3-5%

Front 188

Natalizumab

Back 188

monoclonal antibody against cellular adhesion molecule alpha4-integrin (binds to lymphocytes and prevents adherence to the blood vessels in the brain and gut)

Front 189

PML risk with Tysabri

Back 189

1/1000

Front 190

Tysabri SE

Back 190

Anaphylaxis occurs in about 1/50 patients often in the 2nd or 4th dose and is an absolute contraindication to restarting natalizumab

Front 191

Fingolimod

Back 191

active modulator of 4/5 sphingosine-1 phosphate receptors (making the cells not have the signal necessary for egress from the lymph nodes an secondary lymphoid tissue)

Front 192

Dalfampridine

Back 192

walking medication, voltage-sensitive potassium channels

Front 193

Cladribine

Back 193

purine nucleoside analogue that interferes with behavior and proliferation of certain WBCs/lymphocytes (MS Med)

Front 194

glial neoplasm with necrosis and pseudopalisading nuclei

Back 194

glioblastoma multiforme

Front 195

fried egg appearance

Back 195

oligodendrogliomas (fixation artifact)

Front 196

perivascular pseudorosettes

Back 196

ependymomas

Front 197

true rosettes

Back 197

ependymoma

Front 198

homer-wright rosettes

Back 198

medulloblastoma

Front 199

Ki67

Back 199

marker of nuclear proliferation

Front 200

glial fibrillary acidic protein

Back 200

marker of glial intermediate filaments

Front 201

Melan-A/HMB-45

Back 201

melanocytes

Front 202

Cytokeratin

Back 202

marker of epithelial intermediate filaments

Front 203

cd3

Back 203

tcells

Front 204

Rosenthal fibers

Back 204

pilocytic astrocytoma, pleomorphic xanthoastrocytoma, Alexander's disease, chronic reactive gliosis

Front 205

1p19q deletion

Back 205

good prognostic factor for oligodendrogliomas

Front 206

Tumors presenting with sz

Back 206

oligodendrogliomas, SEGA, DNET, gangliogliomas

Front 207

von Hippel-Lindau

Back 207

cerebellar hemangioblastoma, chrom 3; AD

Front 208

Zellballen arrangement of nest of cells

Back 208

paraganglioma

Front 209

brain mets

Back 209

lung>breast>melanoma

Front 210

anti-hu (AANA-1)

Back 210

small cell carcinoma; associated with sensory neuropathy and neuronopathy

Front 211

Anti-Ri (ANNA-2)

Back 211

opsoclonus myoclonus associated with breast cancer and ovarian

Can see opsoclonus myoclonus with SCLC cancer and in children neuroblastoma->Tx ACTH

Front 212

paraneoplastic retinal degneration

Back 212

SCLC; anti-recoverin Ab

Front 213

limbic encephalitis and testicular germ cell tumor

Back 213

anti-ma

Front 214

types of diffuse astrocytomas

Back 214

fibrillary, gemistocytic and protoplasmic

Front 215

Diffuse astrocytomas grade/mri

Back 215

WHO grade II/ T2 hyperintense with no enhancement

Front 216

meningeal carcinomatosis

Back 216

Polyradiculopathies, multiple cranial neuropathies, AMS

Tx whole brain radiation and intraventricular methotrexate

Front 217

ependyomoma

Back 217

3rd most common CNS tumor in children, 90% are intracranial typically in the 4th ventricle (can lead to elevated ICP)

Front 218

oligoastrocytomas

Back 218

have a better prognosis than pure astrocytomas but worse than oligodendrogliomas

Front 219

Astrocytoma grade/survival

Back 219

grade II-no enhancement 5-10yrs

grade III-some enhancement 2-3yrs

grade IV-ring enhancement 15mnth

Front 220

paraneoplastic optic neuropathy

Back 220

anti-CRMP-5 (associated with lung cancer)

Front 221

meningiomas

Back 221

momomorphic cells with oval nuclei sometimes with psammoma bodies

Front 222

ependymomas

Back 222

sheets of cells with round nuclei with perivascular pseudorossettes and true ependymal rosettes

Front 223

p53 mutation

Back 223

seen with nearly 1/2 of anaplastic astrocytomas

Front 224

pilocytic astrocytoma

Back 224

who grade I, cerebellum most common location, cystic with gad-enhancing mural nodule

Front 225

pleomorphic xanthoaxtrocytoma

Back 225

who grade II;well demarcated tumor usually in the temporal lobes in children and young adults presenting commonly with sz, MRI with cyst with enhancingmural nodule

Eosinophilic granular bodies and Rosenthal fibers maybe seen

Front 226

SEGA

Back 226

hamaromatous tumor in the intraventricular region; who grade I; perivascular pseudorosettes, candle gutterings are masses alonge the ventricular surface similar histologically to SEGA

Front 227

Oligodedroglioma staining

Back 227

negative for glial fibrillary acidic protein

Front 228

Ganglioglioma

Back 228

glial and neuronal components; common in children in the temporal lobes with sz; cyst with enhancing mural nodule; eosinophilic granular bodies; GFAP and synaptophysin positive

Front 229

synaptophysin

Back 229

marker of neuronal differentiation which detects neuronal vesicle proteins

Front 230

NF2 tumors

Back 230

ependymoma, schwannoma, meningioma (more than 1/2 of meningiomas are associated with loss of chromosome 22)

Front 231

hemangioblastoma

Back 231

most common primary cerebellar neoplasm in adults, ~10% of these tumor secrete an erythropoietin like substance leading to secondary polycythemia); who grade I, 25% associated with von Hipplel Lindau

Front 232

medulloblastoma

Back 232

homer-wright pseudorosettes, invasive tumor which arises from the cerebellum in children (~20% of childhood brain tumors)

Front 233

colloid cysts

Back 233

arise near the foramen of monro and can produce HA or drop attacks/acute hydrocephalus; have a thin-walled lining containing thick gelatinous fluid

Front 234

Epidermoid cysts

Back 234

arise from ectopic ectodermal tissue usually around the cerebellopontine angle; characteristic restricted diffuseion on DWI (helps distinguish them from arachnoid cysts)

Front 235

dermoid cysts

Back 235

arise from ectopic ectodermal tissue, tend to occur in the cerebellar vermis, parasellar or parapontine region; can contin hair follicles/sebaceous glands and sweat glands; can rupture and cause a chemical meningitis

Front 236

arachnoid cysts

Back 236

cystic space bound by arachnoid membranes

Front 237

medulloblastoma genetics

Back 237

defect on chrom 17 is most common; poor prognosis with N-myc transcription factor amplification

Front 238

DNET

Back 238

prominent clear spaces that seem to contain ganglion cells, often in the temporal lobe with an MRI showing cystic lesion that does not enhance; "floating neurons" microscopically

Front 239

PCNSL survival

Back 239

5yr 25-45%

Front 240

craniopharyngioma

Back 240

solid with cystic component frequently filled with cholesterol rick brown "machine oil like" fluid

Front 241

chordomas

Back 241

invasive osseo-destructive tumors that arise from remnant of the primitive notochord (commonly in the clivus and sacrococcygeal region)

Front 242

schwannoma

Back 242

elongated nuclei with palisade configurations called Verocay body; S-100 positive

Front 243

cytokeratin

Back 243

positive with epithelial intermediate filamints

Front 244

CD45

Back 244

lymphocytes

Front 245

GFAP positive with high % of Ki67

Back 245

likely astrocytoma

Front 246

astrocytoma

Back 246

neoplasms that originate from the neuroglia

Front 247

acute motor and sensory axonal neuropathy

Back 247

GM1, GM1b, GD1a

Front 248

finger abduction

Back 248

dorsal interossei (DAB; dorasal abduct)

Front 249

finger adduction

Front 250

Benedictine sign

Back 250

median neuropathy, on attempt to make a fist, absent flexion of first digit, partial flexion of second digit complete flexion of 4/5th digits

Front 251

Claw hand

Back 251

ulnar neuropathy, on attempt to make a fist the 4/5th digits hyperextend at he MCP joints and partially flex at the interphalangeal joint

Front 252

Wartenberg sign

Back 252

ulnar neuropathy; fifth digit abduction at rest

Front 253

Froment's sign

Back 253

ulnar neuropathy, during attempted forceful adduction of the thumb (as with attempting to hold a piece of paper) thumb flexion occurs

Front 254

intrinsic hand weakness in a frequent bicycle rider

Back 254

ulnar neuropathy 2/2 compression in Guyons canal

Front 255

wrist drop with strong forearm extension, reduced sensation over lateral arm

Back 255

radial neuropathy at the spiral groove

Front 256

OK sign

Back 256

anterior interosseus neuopathy

Front 257

acute sensory neuronopathy

Back 257

GD1b

Front 258

sensory neuronopathy

Back 258

sensory ataxia, asymmetric sensory loss, areflexia, normal strength, reduced SNAP and nl CMAP

Front 259

wrist drop with weak forearm extensors in an alcoholic

Back 259

Saturday night palsy, proximal radial nerve injury prior to the spiral groove

Front 260

bilateral carpal tunnel, family history of carpal tunnel, mild sensory polyneuropathy

Back 260

familial amyloid polyneuropathy type 2; transthyretin

Front 261

corneal dystrophy, multiple cranial neuropathies, peripheral sensorimotor neuropathy

Back 261

familial amyloid polyneuropathy type 4

Front 262

asymmetric demyelinating neuropathy affecting several motor and sensory nerves

Back 262

multifocal acquired demyelinating sensory and motor neuropathy

Front 263

most common type of CMT

Back 263

CMT1; AD demyelinating

Front 264

Duplication of PMP22

Back 264

CMT1A

Front 265

gene mutated in X-linked CMT

Back 265

connexin 32

Front 266

demyelinating neuropathy with monoclonal gammopathy

Back 266

anti-mag

Front 267

sensory loss, acral mutilation, autonomic symptoms

Back 267

hereditary sensory and autonomic neuropathy

Front 268

episodes of painful burning in the hands and feet with heat exposure and exercise

Back 268

primary erythromelalgia (or Fabrys)

Front 269

Acute motor axonal neuropathy

Back 269

GM1, GM1b, GD1a, GalNac-GD1a

Front 270

painful sensory polyneuropathy, autonomic involvement, cardac and renal involvement, FHx of the same

Back 270

familial amyloid polyneuropathy type 1, transthyretin

Front 271

porphyria I which photosensitivity does not occur

Back 271

AIP

Front 272

enzyme deficiency in Fabry's

Back 272

alpha-galactsidase A

Front 273

mode of inheritance of Fabry's

Back 273

X-linked

Front 274

retinitis pigmentosa, neuropathy

Back 274

Refsum's disease, myoneurogastrointestinal encephalopathy, neurogenic muscle weakness, ataxia and retinitis pigmentosa, abetalipoproteinemia

Front 275

retinitis pigmentosa, neuropathy, taxia, low vLDL, acanthocytes on peripheral smear

Back 275

abetalipoproteiemia, Bassen-Kornweig syndrome, AR

Front 276

giant axonal neuropathy

Back 276

AR, neuropathy, UMN, optic atrophy, tightly curled hair, large focal axonal swelling

Front 277

Refsum's

Back 277

AD, peroisomal d/o; retinitis pigmentosa (night blindness and visual field constriction), cardiomyopathy and skin changes; elevated phytanic acid levels

Front 278

abetalipoproteinemia

Back 278

AR, defective triglyceride transport, fat malabsorption results in deficiencies in vit A, E, D and K, peripheral smear with acanthocytes

Front 279

H-reflex

Back 279

equivalent of the ankle reflex, stimulate at the tibial nerve in the popliteal fossa

Front 280

early onset rapid recruitment

Back 280

myopathic processes with loss of muscle fibers in which excessive number of short duration small amplitude MUPs fire during the muscle contraction

Front 281

fibrillation potentials

Back 281

seen three weeks after onset of motor axon loss (3-6 months later you get large polyphasic MUP)

Front 282

LEMS

Back 282

CMP amplitude are usually low to borderline low at rest (b/c many fibers fail to reach threshold after stimulus given inadequate release of acetylcholine vesicles); decremental response with slow stimulation (decline in acetylcholine release with each stimuli) but incremental response with rapid repetitive stimuli (>50% to be diagnostic)

Front 283

muscle fiber types

Back 283

type I: slow oxidative

type 2a:fast oxidative glycolytic

type 2b:fast glycolytc

Front 284

dorsal scapular nerve/long thoracic nerve

Back 284

arises directly from the nerve roots

Front 285

suprascapular nerve

Back 285

innervates the supraspinatus and infraspinatus; arises from the upper trunk

Front 286

thoracodorsal

Back 286

innervates the latissimus dorsi

Front 287

FAP1

Back 287

3rd-4th decade; loss of pain/temp, autonomic dysfunction, cardiac/renal involvement, transthyretin

Front 288

FAP2

Back 288

4-5th decade, carpal tunnel, slowly progressive polyneuropathy (no autonomic features)

Front 289

FAP3

Back 289

similar to FAP1 but with early renal involvementment, abnl apolipoprotein A1

Front 290

FAP4

Back 290

3rd decade with corneal dystrophy and later cranial neuropathies and skin changes, abnl amyloid protein gelsolin

Front 291

CMTX

Back 291

second most common type of CMT, demyelinating, mutation in connexin 32

Front 292

CMT2

Back 292

AD; axonal neuropathies, appear later

Front 293

CMT3 (Dejerine-Sottas)

Back 293

severe form of demyelinating CMTs, presents in infancy, AR and AD forms

Front 294

median nerve

Back 294

derived from lateral and medial cords, does no innervate any muscles in the upper arm (above the elbow)

Front 295

APB

Back 295

median nerve, C8/T1, thumb abduction

Front 296

pronator teres

Back 296

forearm protnation, C6/7, median nerve

Front 297

Anterior interosseus nerve

Back 297

off the median nerve, innervates the flexor digitorum profundus to the 2/3rd digits, flexor pollicis longus and pronator quadrtus

Front 298

lumbosacral plexus

Back 298

lumbar and sacral plexus connected via the lumbosacral trunk, T12-L4

Front 299

superior gluteal nerve

Back 299

gluteus medius, gluteus minimus and tensor fascia latae which contribute to thigh abduction

Front 300

thigh abduction when the hip is extended

Back 300

gluteus medius/minimus

Front 301

thigh abduction when the hip is flexed

Back 301

tensor fascia latae

Front 302

inferior gluteal nerve

Back 302

innervates the gluteus maximus (thigh extension)

Front 303

tibial nerve

Back 303

adductor magnus, semimembranous, semitendinosus, long head of biceps femoris (short head innervated by common peroneal nerve), gastroc, tibialis posterior

Front 304

deep peroneal nerve

Back 304

tibialis anterior, extensor halluces, extensor digiorum lonus and brevis, peroneus teritus (lesion will cause foot drop with inability todorsiflex without impairing eversion of the foot)

Front 305

L5 vs peroneal

Back 305

preserved foot inversion is seen with peroneal(though not L5)

Front 306

hip flexion

Back 306

femoral nerve, L2/3, iliacus

Front 307

knee extension

Back 307

femoral nerve, L3/4, quads

Front 308

obturator

Back 308

thigh adduction, L2/3/4, adductor brevis

Front 309

femoral nerve injury

Back 309

weakness in hip flexion and knee extension, loss of patellar reflex and sensory findings in the anteromedial thigh and medial leg

-weakness on hip flexion suggests an intrapelvic injury

Front 310

Tangiers

Back 310

AR, neuropathy, mutation in adenosine triphosphate transporter protein, low serum cholesterol levels an elevated triglyceride levels, orange tonsils

Front 311

brachioradialis

Back 311

radial nerve, forearm flexor

Front 312

radial nerve

Back 312

sensation over posterior arm (posterior cutaneous nerve of the arm) and triceps>spiral grove [lateral cutaneous nerve to the arm (sensation to lateral arm)]>brachioradialis/extensor carpi radialis>posterior interosseus/superficial sensory radial nerve(sensation to proximal 2/3 of the thumb including snuffbox)

Front 313

foot eversion weakness

Back 313

superficial peroneal nerve innervated muscles

Front 314

posterior interosseus nerve palsy

Back 314

pure motor nerve, weakness of wrist extension in an ulnar direction

Front 315

Paraspinal fibrillations

Back 315

radicuopathies but not plexopathies

Front 316

Parsonage-Turner

Back 316

frequently affects suprascapular, long thoracic and median nerve; pain>weakness

Front 317

anterior interosseus

Back 317

pure motor branch of the median nerve, weakness in grasping thumb and index finger on attempt to make an okay sign

Front 318

pronator teres syndrome

Back 318

compression of the median nerve as it passes between the two heads of the pronator teres (usually occurs with repetitive movements), deep ache in the forearm and weakness of median nerve innervated muscles (pronator teres strength is intact)

Front 319

humeral fracture

Back 319

radial nerve injury

Front 320

spinal accessory nerve

Back 320

complication of radical neck dissection

Front 321

Wartenberg syndrome

Back 321

superficial sensory radial neuropathy, dysesthesias and numbness over the dorsolateral aspect of the hand

Front 322

musculocutaneous neuropathy

Back 322

anterior shoulder dislocations, coracobrachialis which assists the deltoid in anterior flexion of the arm

Front 323

axillary neuropathy

Back 323

fractures at the surgical neck of the humerus and anterior shoulder dislocations

Front 324

Fabrys

Back 324

alpha-galactosidase A; angiokeratoms, deposition of globotriaosylceramide

Front 325

long thoracic nerve

Back 325

innervates serratus anterior, injury causes winging o the scapula

Front 326

thoracoabdominal polyradiculopathy

Back 326

seen in pt with diabetes with pain and dysesthesias and motor changes in thoracic and abdominal nerves

Front 327

neurogenic thoracic outlet syndrome

Back 327

compression of C8/T1 roots, plexus passes through the scalene triangle (anterior/middle scalene and first rib) an and anomalous fibrous band between the scalenes or elongated C7 transverse process leads to compression; weakness of intrinsic hand muscles

Front 328

HSAN1

Back 328

AD, onset in young adulthood with lancinating pains, hypohydrosis

Front 329

HSAN3 (Riley day syndrome)

Back 329

dysphagia, vomiting and recurrent infection, absence of lacrimation

Front 330

HSAN2

Back 330

begins in infancy; insensitivity to pain, autonomic symptoms and cognitive dysfunction are not prominent

Front 331

HSAN4

Back 331

congenital insensitivity to pain, cognitive delay is also prevalent

Front 332

causes of mononeuritis multiplex

Back 332

diabetes, amyloid, paraneoplatic, leprosy, SLE, RA, lymphoma, sarvoid

Front 333

Primary erythromelalgia gene

Back 333

SCN9A

Front 334

lower trunk lesion

Back 334

stretching as when grabbing onto something when falling; weakness in ulnar and median innervated muscles (intrinsic hand muscles and sensory loss on medial forearm and hand)

Front 335

upper trunk lesion

Back 335

Erb'spalsy, shoulder is forecefully pulled down, waiter's tip position

Front 336

L5 radic

Back 336

sensory impairment with dermatome extending to the big toe, weakness in toe extension and ankle dorsiflexion/inversion and eversion (foot drop)

Front 337

acute onset dysautonomia in a smoker with a lung mass

Back 337

paraneoplastic autonomic ganglionopathy (antibody against ganglionic nicotinic acetylcholine receptor); associated with SCLC

Front 338

horner's syndrome with intact facial sweating

Back 338

lesion distal to carotid bifurcation

Front 339

duchenne muscular dystrophy

Back 339

absent dystrophin, XLR

Front 340

throat, tongue, ear pain associated with syncope

Back 340

glossopharyngeal neuralgia

Front 341

tilt table test with raise >30bpm or >120bmp within 10 minutes of tilt up without changes in BP but symptoms of orthostasis

Back 341

POTS

Front 342

Emery-Dreifuss

Back 342

LMNA, AD

Front 343

central core myopathy

Back 343

RYR1, central pale cores in NADH stains from absese of mitochondria, associated with malignant hyperthermia

Front 344

tarui disease

Back 344

phosphofructokinase deficiency

Front 345

cause of Hirschsprung's

Back 345

maldevelopment of myenteric plexus (sometimes due to RET proto-oncogene)

Front 346

Becker's MD

Back 346

abnormal or reduced dystrophin, XLR

Front 347

Coris disease

Back 347

debranching enzyme deficiency (glycogenosis type III)

Front 348

McArdles

Back 348

myophosphorylase deficiency(converts glycogen into glucose-6-phosphate), glycogenosis type V, AR; exercise induced weakness, cramps and contractions, no production of lactic acid

Front 349

dermatomyositis

Back 349

perifasicular atrophy

Front 350

gene in myotonic dystrophy

Back 350

CTG repeate, DMPK gene

Front 351

pompe's disease

Back 351

acid maltase deficiency

Front 352

emery-dreifuss (protein, inheritance)

Back 352

Emerin, X-linked

LMNA (encodes laminin A/C), AD

Front 353

Oculopharyngeal dystrophy

Back 353

GCG repeat, PABP2 gene

Front 354

myotonic dystrophy

Back 354

CCTG repeat, zinc finger protein

Front 355

inclusion body myositis

Back 355

rimmed vacuoles

Front 356

critical illness myopathy (path)

Back 356

myosin loss

Front 357

Andersen's disease

Back 357

branching enzyme deficiency

Front 358

hypokalemic periodic paralysis

Back 358

AD; type 1 CACNA1s; type 2 SCN4A

No myotonia

Triggered by exercise, CHO, EtOH, cold and emotions

Tx acetazolamide and K+ sparing diuretics

Front 359

hyperkalemic periodic paralysis

Back 359

AD mutation in SC4A; triggered by resting after exercise and fasting

Tx glucose or thiazide diuretics

Front 360

Andersen-Tawil syndrome

Back 360

periodic paralysis, ventricular arrhythmias and dysmorphic features

Front 361

steroid myopathy

Back 361

atrophy of type II fibers

Front 362

centronuclear myopathy

Back 362

ptosis, ocular palsies, facial, pharyngeal, laryngeal and neck muscle weakness,

XLD or AD or AR

Front 363

anti-striational muscle antibodies

Back 363

MG with thymoma

Front 364

Fukuyama MD

Back 364

AR, mutation in fukutin on chrom 9, weakness/ocular and CNS abnl (MR and sz with white matter changes in the frontal region); joint contractures

Front 365

Laminin-alpha-2

Back 365

merosin deficiency, extraocular and facial muscle are spared, contractures

Front 366

FSHD

Back 366

AD deletion in D4Z4, upper arm more atrophic than forearms, "beevor" sign

Front 367

oculopharyngeal muscular dystrophy

Back 367

pts are typically French Canadian; GCG opoly A binding protein 2

Front 368

DM1

Back 368

AD, CTG expansion on chrom 19; fontal balding, atrophy of masseters and temporalis and weakess and atrophy of small muscles of the hands, forearms and peroneal muscules

Front 369

carotid sinus hypersensitivity

Back 369

syncope with asystole for at least three seconds or fall of >50mmHg in SBP in response to pressure on the carotid sinus

Front 370

thymectomy

Back 370

recommended for patients with MG and symptom onset prior to the age of 60

Front 371

paramyotonia congenita

Back 371

AD, SCN4A, no "warm-up"; worsened with exercise and exposure to cold

Front 372

Nonaka myopathy

Back 372

AR, foot droop but no bulbar involvement

Front 373

Welander MD

Back 373

AD, onset 40-60yrs, distal myopathy

Front 374

Markesbery-Griggs

Back 374

AD distal myopathy with onset later in life; gene encoding titin

Front 375

Miyosihi myopathy

Back 375

AR presenting in adults with weakness and atrophy in distal leg muscles predominantly in the posterior compartment

Front 376

Dysferlin

Back 376

associated with limb girdle MD type 2B

Front 377

anti-Jo

Back 377

if seen in dertamtomyositis can be associated with ILD

Front 378

pure autonomic failure

Back 378

loss of intermediolateral cell column neurons from deposition of alpha synuclein, orthostatic hypotension, early satiety, urinary hesitancy and neck/shoulder aching (coat hanger distribution)

Front 379

orthostatic hypotension

Back 379

decrease in SBP by >20 or DBP>10 or HR >20

Front 380

rimmed vacuoles

Back 380

IBM

Front 381

mutation in SLCO1B

Back 381

predisposition to develop statin-induced myopathy

Front 382

LGMD1 (inheritance) vs LGMD2

Back 382

LGMD1-AD

LGMD2-AR

Front 383

LEMS

Back 383

DTRS are diminished or absent; SOX antibody can be associated with SCLC ) vs autoimmune

Front 384

Tx of LEMS

Back 384

3,4 diaminopyridine (DAP) which inhibits presynaptic potassium channels prolonging depolarization and increasing acetylcholine vesicle exocytosis

Front 385

Nemaline myopathy

Back 385

variability from severe congenital forms to adult onset forms; proximal weakness, cardiomyopathy and prominent respiratory muscle compromise

Front 386

Glycogenosis type II

Back 386

acid maltase deficiency; AR deficiency of acid maltase with glycogen accumulation (stains with acid phosphatase)

-Pompe's infantile form

-Childhood form

-Adult (2-4th decade) with proximal weakness that typically involves the diaphragm

Front 387

Congenital myasthenia

Back 387

most common-congenital acetylcholine receptor deficiency (AR)

choline acetyltransferase deficiency shows NO prominent extra ocular eye muscle involvement

slow channel syndrome-AD inheretance

Front 388

Ulriches congenital MD

Back 388

neonatal weakness/contractures, distal hyperlaxity, protrusion of the calcanei

Front 389

Bethlem myopathy

Back 389

mutations in collagen type VI; weakness and contractures as well as hyperextensible interphalangeal joints

Front 390

parasympathetic gangli

Back 390

ganglia are located close to the target site (preganglionic acetylcholine with nicotinic receptors in the ganglia)

Front 391

AR distal myopathies

Back 391

Moyoshi/Nonaka

Front 392

Horners syndrome best light to be seen

Back 392

more prominent in dim light

Front 393

Penile erection

Back 393

parasympathetic/ejaculation is sympathetic

Front 394

external uretheral sphincter

Back 394

voluntary control with sympathetic innervation

Front 395

myofibrillar myopathy

Back 395

proximal and distal weakness; cardiac involvement in ~25%

Front 396

myotonia congenita

Back 396

Thomsen disease: AD

Beckers disease: AR

Mutation in chloride gene CLCN1; myotonia or impaired relaxation is seen

***have a warm up phenomena (unlike paramyotonia)

Front 397

Survival motor neuron gene 1

Back 397

SMA

Front 398

Only LMN

Back 398

progressive muscular atrophy, SMA and benign focal amyotrophy

Front 399

posterior 1/3 of the cord

Back 399

posterior spinal arteries

Front 400

Brown-Sequard

Back 400

I/l loss of motor and vibration, c/l pain and temp

Front 401

adrenomyeloneuropathy; gene/chrom

Back 401

ABCD1 gene; chrom X; impaired ability to oxidize VLCFA

Front 402

epidural lipamatosis

Back 402

chronic steroid use

Front 403

Riluzole

Back 403

inhibitor of glutamate release

Front 404

primary lateral sclerosis

Back 404

UMN signs at 3yrs from symptom onset

Front 405

HTLV-1

Back 405

causes tropical spastic paraparesis; causes chronic progressive myelopathy endemic in equatorial and south Africa

Front 406

Hereditary spastic paraparesis

Back 406

Progressively worsening spasticity in the lower extremities; both pure and complicated forms; SPAST gene

Front 407

% of familial ALS

Back 407

10%

Front 408

Radiation myelopathy

Back 408

transient; 3-6 mnths after with dysesthesias in the extremities that resolves

delayed; >6mths after

Front 409

Most common intradural intramedullary tumors

Back 409

ependymoma and astrocytoma (children)

Front 410

Causes of atlantoaxial dislocation

Back 410

RA; Klippel-Feil syndrome (decreased number and abnormal fusion of cervical vertebrae), Downs, Morquio syndrom

Front 411

Traumatic spinal cord injury

Back 411

methylpred 30mg/kg with 5.4mg/kg/hr *23hrs

Front 412

superficial siderosis

Back 412

hemosiderin deposition in subpial layers; gait ataxia, dysarthria, cognitive decline and myelopathic findings

CSF xanthochromia

MRI with T2 hypointensity

Front 413

Conus medullaris

Back 413

perineal sensory deficit which is b/l and symmetric; pain is symmetric; sometimes decreased DTRs

Front 414

Cauda equina

Back 414

radicular pain and sensory loss with an asymmetric dystribution

Front 415

Kennedy's disease

Back 415

presents in the 4th decade; weakness in proximal muscles with LMN dysfunction and tremor, crams and fasiculations (especially in the face); gynocomastia

CAG repeat on chrom X

Front 416

Posterior longitudinal ligament

Back 416

runs along the posterior surface of the vertebral bodies but ventral to the cord

Front 417

Hirayama disease

Back 417

progressive asymmetric wasting of one or both hands and forearms; high incidence of atopic d/o; MRI with cervical cord thinning

Front 418

Spinal cord abscess

Back 418

risk factors: DM, IVDU, h/o spine injury/surgery, renal disease

most common organism is staph aureus (CSF Cx is positive in only 25% of pts)

Tx: antibiotics for 4-6 wks

Front 419

chrom 1 gene associated with AD

Back 419

Presenilin-2

Front 420

chrom 14 gene associated with AD

Back 420

presenilin-1

Front 421

chrom 19 gene associated with AD

Back 421

apoliporoptein E4

Front 422

chrom 21 gene associated with AD

Back 422

amyloid precursor protein

Front 423

neuritic plaques, amyloid angiopathy, neurofibrillary tangles, granulovacuolar degeneration, Hirano bodies

Back 423

AD

Front 424

synucliopathies

Back 424

Parkinsons

MSA

Lewy body

Front 425

globose neurofibrillary tangles and tuffed astrocytes

Back 425

PSP

Front 426

spongiform encephalopathy

Back 426

CJD

Front 427

gerstmann's syndrome

Back 427

acalculia, agraphia, L-R confusion, finger agnosia

dominant inferior parietal lobe, angular gyrus

Front 428

where pathway

Back 428

parieto-occipital

Front 429

what pathway

Back 429

parieto-temporal

Front 430

Balint syndrome

Back 430

optic ataxia, oculomotor apraxia, simultagnosia (b/l parieto-occipital cortices)

Front 431

Kluver-Bucy syndrome

Back 431

hyperorality, visual agnosia, hypersexuality, blunted affect, hypotamorphosis (b/l medial temporal lobes involving the amygdala)

Front 432

dressing apraxia

Back 432

non-dominant parietal cortex

Front 433

neglect

Back 433

non-dominant parietal cortex

Front 434

conjugate gaze deviation c/l to hemiparesis

Back 434

lesion in frontal eye fields

Front 435

MCA-ACA watershed

Back 435

transcortical motor aphasia (disconnecting SMA from Brocas)

Front 436

MCA-PCA watershed

Back 436

transcortical sensory aphasia (or thalamic)

Front 437

ideomotor apraxia

Back 437

patient understand the movement to be executed but has difficulty with postural and spatial orientation; dominant parietal cortex

Front 438

ideational apraxia

Back 438

patient struggles with temporal sequence of events; bifrontal or biparietal cortex

Front 439

MCI

Back 439

impairments in one or more cognitive domains (amnestic MCI has a 15%/yr conversion rate)

Front 440

Papez circut

Back 440

entorhinal cortex>hippocampus>fornix>mamillary bodies>anterior nucleus of the thalamus>cingulate>entorhinal cortex

Front 441

Immediate memory

Back 441

the amount of information someone can keep in concious awarness without active memorization (forward digit span)

Front 442

Working memory

Back 442

manipulation of information retained in immediate memory (adding two of the digits repeated)

Front 443

Recent memory

Back 443

ability to recall spicific items after a delay of minutes to hours; requires hippocampus and parahippocampus (imapired first in early AD)

Front 444

Remote memory

Back 444

asking about hisortical life event and long-known information

Front 445

Declaritive memory

Back 445

facts and events (significantly affected in AD)

Front 446

episodic memory

Back 446

specific events and contexts (most imparied in early AD)

Front 447

pathophys of AD

Back 447

loss of cholinergic neurons in the nucleus basalis of Meynert and loss of choline acetyltransferease activity

Front 448

Locus coeruleus

Back 448

NE

Front 449

median and dorsal raphe nuclei

Back 449

serotonin

Front 450

nucleus accumbens and ventral tegmental area

Back 450

dopamingergic neurons

Front 451

substantia nigra pars reticulata

Back 451

GABAergic neurons (as compared to the pars compacta whic hcontian dopaminergic neurons)

Front 452

dorsolateral frontal lobe lesion

Back 452

planing of motor acitivity, problem solving, personality changes, perseveration, apathy, anhedonia and depression

Front 453

orbitofrontal cortex lesion

Back 453

OCD, disinhibition, hypersexuality, anxiety, depression, impulsiveness, echoapraxia, utiliation behavior (mimicking of the use of objectS) and antisocial behavior

Front 454

familial FTD

Back 454

most commonly associate3d with 17q21 (and chrom 3/9)

Front 455

progressive non fluent aphasia

Back 455

anomia, word-finding difficulty, effortful speach>>>>global aphasia

Front 456

semantic dementia

Back 456

progressive speech disturbance with normal fluency but impaired comprehansion, anomia and semantic paraphasias (may resemble transcortical sensory aphasia) with typical left temporal dysfunciton (and/or face/object recognition dysfunction reflecting right temporal dysfunction)

Front 457

dorsomedial nucleus of thalamus

Back 457

projects the the dorsolateral prefronal, orbitofrontal, anterior cingulate gyrus and tempral lobe/amygdala

Lesions cause abulia, anterograde amnesia, social disinhbition and motivation loss

Front 458

anterior nuclues of the thalamus

Back 458

limbic relay and memory formation (Papez circut)

Front 459

pulvinar nucleus

Back 459

processing visual information and sensory integration

Front 460

ventral posterolateral nucleus

Back 460

sensory relay from the body

Front 461

ventral posteromedial nucleus

Back 461

sensory relay from the face

Front 462

what interferes with ability to do rehab after TBI the most

Back 462

alterations in personality

Front 463

Lewy bodies

Back 463

cytoplasmic inclusions iwht anti-ubiquitine and alpha-synuclein

Front 464

Picks bodies

Back 464

spherical aggregations of tau protein in neurons

Front 465

PSP

Back 465

globose neurofibrillary angles in neurons of subcortical nuclei and tufted astrocytes

Front 466

memantine

Back 466

low-to-moderate NMDA receptor antagonist (and some action at 5HT3)

Front 467

Acetylcholine esterase inhibitors

Back 467

Donepezile: pure acetylcholinesterase inhibitor

Rivastigmine: combined acetylcholineesterase and butyrylcholinesterase inhibitor

Galantamine: combined acetylcholinesterase inhibitor and allosteric nicotinic modulator

Front 468

Neuroimaging in CJD

Back 468

cortical ribboning, pulvinar sign and increased T2 signal in neocortex, thalamus, caudate and putamen

Front 469

Prion protein gene

Back 469

PRNP genel locataed on chrom 20

Front 470

prosopagnosia can be associated with

Back 470

achromatoopsia and visual field defects

Front 471

Pure word deafness (visual auditory agnosia)

Back 471

impaired auditory comprehension with normal written language comprehension distinguishing it from Wernickes (oftne in bilateral middle portions of the superior temporal gyri disconecting Wernickes from Heschl's gyrus)

Front 472

nonverbal auditory agnosia

Back 472

agnosia to sounds (such as the sounds that animals make) can be seen with b/l anterior temporal lesions

Front 473

aphemia

Back 473

pure word mutism; inability to speak fluently, imparied repetition and intact auditory comprehension (retained ability to write and comprehend written language); lesion in dominant frontal operculum anterior to Brocas area

Front 474

Foix-Chavany-Marie

Back 474

anteiror opercular syndrome; severe dysarthria, b/l volunary paralysis of the lower cranial nerves with preserved involuntary and emotional innervation

Front 475

conduction aphasia

Back 475

repitition is impaired

Front 476

amelodia (affective motor aprosodia)

Back 476

nondominant posteroinferior frontal gyrus (nondominant hemispheres analogue to Brocas) with loss of abilty to vary speech according to her emotional state

similarilty the inability to perceive and understand emotional contex of others speech localizes to the nondominant posteriorsuperior temporal gyrus (analong of Wernickes area)

Front 477

cause of pseudobulbar affect

Back 477

disconnect of the corticobulbar tracts from the brainstem cranial nerve nuclei

Tx: dextromethaorphane-quinide combination

Front 478

conduction apraxia

Back 478

impairment in imitation of movements

Front 479

disassociation apraxia

Back 479

inability to execute a movment on command but intact abilty to imitate

Front 480

conceptual apraxia

Back 480

misconceptin of the function of an object in the environment (using a fork to eat soup)

Front 481

dorsomedial prefrontal cortex

Back 481

involved in motor initiation, goal-directed behavior and motivation; lesions can lead to amotivation, apathy, a reduction of movement (involvement of SMA)

Front 482

Wisconsin card sorting test

Back 482

arrange cards based on a specific concept ot test frontal lobe function, visual conceptualization and set shifting

Front 483

Capgras syndrome

Back 483

delusional belief that a member of hte patients family is an identical-looking imposter

Reduplicative paramnesia: identical places (rather than just people)

Front 484

Fregolis syndrome

Back 484

belief that the same person exists in several disguises

Front 485

intermetamorphsis

Back 485

belief that individuals have swapped identities while maintainent hte same external appearance

Front 486

Cotards

Back 486

belief that you are dead or dying

Front 487

astereognosis

Back 487

inabiliity to recognize shapes manipulated in teh hand (non-dominant parietal)

Front 488

right hemiparesis with right gaze deviation

Back 488

left pontine lesion; parapontine reticular formation leads to i/l conjugate gaze so a lesion leads to c/l gaze 2/2 unoppesed action of the c/l side not overcome with the oculocephalic maneuver

Front 489

Nondeclarative memory

Back 489

memory of skills and other acquired behaviors; does not have a specific localization

Front 490

alien limb

Back 490

lesion to c/l ACA involving corpus callosum or SMA (or CBD)

Front 491

duration of symptoms distinugising schizophrenia, schizophreniform d/o and breif psychotic d/o

Back 491

brief psychotic d/o <1mn

schizophreniform 1-6mnth

schozophrenia >6mnth

Front 492

secondary gain in factitious d/o

Back 492

assumption of hte role of a patient

Front 493

secondary gain in malingering

Back 493

external incentives such as money

Front 494

duration of symptoms in acute stress reaction vs PTSD

Back 494

acute stress reactoin <1mnth

PTST>1mnth

Front 495

cluster A personality d/o

Back 495

paranoid; schizotypal (weird/odd/eccentric), schizoid (loner)

Front 496

cluster B personality d/o

Back 496

narcissistic; antisocial; boarderline; histrionic (attention seeking)

Front 497

cluster C personality d/o

Back 497

avoidant; dependent; obsessive-compulsive

Front 498

antidepressants that lead to hyponatremia

Back 498

SSRIs

Front 499

MOA of haldol and other typical antipsychotics

Back 499

D2 antagonist

Front 500

MOA of risperidone and other atypical antipsychotics

Back 500

D2 and 5HT2A antagnoists

Front 501

depressive episode vs major depressive d/o

Back 501

depressive episode 2wks; major depressive d/o diganosed after two or more episodes that occured at least two months apart

Front 502

PET in depression

Back 502

dorsolateral prefrontal cortex is hypometabolic and orbitofrontal is hypermetabolic

Front 503

DBS targets for depression

Back 503

subcallosal cingulate gyrus and ventral poriton of the anterior limb of the internal capsule

Front 504

manic episode duration

Back 504

1wk

Front 505

hypomanic episodes

Back 505

at least four days with milder symptoms

Front 506

bipolar I vs bipolar II

Back 506

bipolar I: manic

bipolar II: hypomanic

Front 507

cyclothymic d/o

Back 507

clinically attenuated form of bipolar d/o with sympomts spanning at least two years

Front 508

hypochondriasis time

Back 508

at least six months

Front 509

Fluvoxamine

Back 509

high protein binding that can interact with anticoagulant medications

Front 510

conduct d/o

Back 510

pervasive violantion of rules and others rights for at least 12 mnths including aggresion to people or animals, destruction of property, theft (can be given to those under 18yrs)

Front 511

antisocial personalit d/o

Back 511

have to be 18yrs of age

Front 512

oppositional defiant d/o

Back 512

hostile and defiant behavior for at least six months (frequent at 6-8yrs)

Front 513

dysthymic d/o

Back 513

insidious onset of depression for at least 22mnths over a 2yr period

Front 514

ADHD

Back 514

some symptoms must occur before the age of 7

Get an EKG prior to starting stimulat medications

Front 515

TCAs

Back 515

have activity at muscarinic, histaminergic and alpha-adrenegic receptors

Front 516

adjustment d/o

Back 516

response to a stressor that occured within three months of symptom onset and do not persist beyond six months of that stressor

Front 517

BDZ MOA

Back 517

GABA a

Front 518

buspirone

Back 518

5HT1A agonism and dopaminergic agonism

Front 519

schizophrenia imaging

Back 519

reduced brain volumes with atrophy in the frontal and temporal lobes, hippocampus and thalamus; PET with hypometabolism in the dorsolateral prefrontal cortex

Front 520

serotonin syndrome

Back 520

encephalopathy, autonomic hyperactivity, myoclonus, hyperreflexi and tremor

Front 521

schizoaffective d/o

Back 521

psychotic d/o with concomitant mood d/o (dilusions or hallucinations for at least two weeks wit absence of prominet mood symptoms make it distinguishe from depression with psychotic features)

Front 522

antidepressant minimal trial

Back 522

6wks

Front 523

atypical antipsychotics

Back 523

clozapine, olanzapine, quetiapine, risperidoen, ziprasidoen and aripiprazole; D2 and 5HT2A antagonism

Maybe more effective at treating negative symptoms; less EPS but increase risk of weight gain, diabetes and dyslipidemia

Front 524

olanzapine

Back 524

has the highest antimuscarininc activity (dry mouth, confusion and constipation)

Front 525

flumazenil

Back 525

antagonist of BDZ and other sedative hypontics such as zolpidemand eszopiclone

Front 526

Clozapine

Back 526

can cause sz at higher doses (and agranulocytosis)

Front 527

lithium and sodium

Back 527

can cause hypernatremia from nephroenic DI

Front 528

PML path

Back 528

myelin loss, giant astrocytes and altered oligodendrocytes with enlarged nuclie an dviral inclusions

Front 529

hypopigmented lesions and enlarged peripheral nerves

Back 529

mycobacterium leprae

Front 530

oculomasticatory myorrhythmia

Back 530

whipple disease

Front 531

WNV

Back 531

only 1% have severe neurologic presentation

Front 532

Tx for crypto

Back 532

amphoteracin plus flucytosin for 2-3 wks (amphotericine is associated with hypokalemia, hypomagnesemia and renal failure) and if doing well can switc hto fluconazole 200mg BID for 8-10wks

Front 533

toxoplamosis

Back 533

intracellular protozone (seen iwth CD4 less than 100)

Tx sulfadiazine plus pyrimethamine (both agents affect folate pathways so add folinic acid to the regimen)

TMPSMX for prophylaxis (with CD4 less than 200)

Front 534

JCV

Back 534

polyomavirus

"spaghetti and meatballs" appearance

Front 535

neonatal meningitis bacteria

Back 535

E. coli, group B strep, gram negative bacilli, Listeria

Front 536

1-23mnth menigitis bacteria

Back 536

Strep pneumo, Neisseria, Strep agalactiae, H. influ, Ecoli

Front 537

2-50yr menigitis bacteria

Back 537

strep penumo and neisseria (older adults get listeria)

Front 538

meningitis with neurosurg pts

Back 538

aerobic gram negative bacili (pseudomanas), staph aureus and coag negative staph (stach epidermidis)

Front 539

meningitis with CNS instrumentation

Back 539

aerobic gram negative bacili (pseudomanas), staph aureus and coag negative staph (stach epidermidis)

and

propionibacterium acnes

Front 540

leprosy

Back 540

lepromatous varient: impaired cell-mediated immunity-thickened nerves with multiple neuropathies and poorly demarcated skin lesions

tuberculoid varient: good celular immunity; better localized skin lesions and asymmmetric peripheral neuropathys and thickened nerves

Front 541

Tx of brain abscess

Back 541

third generation cephalosporin, metronidazole and vanc for 6-8wks

Front 542

TB meningits

Back 542

affects the base of the brain and commonly causes multiple cranial neuropathies and AMS

low glucose in CSF (<40), high protein

OP is usually elevate dbut may be nl

Front 543

syphilis testing

Back 543

VDRL and RPR are less specific but more sensitive and become negative after some times

Treponemal antibodies will be positive for life (FTAb)

Front 544

fatal familial insomnia

Back 544

prion d/o wit hintractable insomnia and sympathetic hyperactivity

Front 545

amebic meningoencephalitis

Back 545

naegleria fowleri, acanthamoeba and balamuthia mandrillaris

Front 546

recurrent sinusitis, renal disease, multiple cranial neuropathies

Back 546

Wegners granulomatois; cANCA

Front 547

fever, abdominal pain, HA, mononeritis multiplex in pt with hep B

Back 547

polyarteritis nodosa; pANCA

Front 548

multiple cranial neuropathies, thick skull and elevated ALP

Back 548

osteopetrosis

Front 549

pentad of TTP

Back 549

microangiopathic hemolytic anemia, thrombocytopenia, renal dysfunciton, fever, neurologic symptoms

Front 550

Facial palsy involving hte upper and lower face, hilar adenopathy

Back 550

sarcoidosis

Front 551

POEMs

Back 551

plasma cell dyscrasia, polyneuropathy, organometaly, endocrinopathy, monoclonal gammopathy and skin changes

Front 552

Celiacs

Back 552

CNS may be the only features (axonal peripheral neuropathy, inflammatory myopathy, cerebral calcifications, sz and prominent cerebellar involvement)

Front 553

Tx of whipples

Back 553

sulfonamides

Front 554

IBD and stroke

Back 554

increased risk of both venous and arterial thrombosis

cranial nerve VII palsy with Melkersson-Rosenthal syndrome (tongue fissuring and angioedema)

Front 555

hypothyrodism

Back 555

pseudomyotonia (delay in muscle relaxation following elicitation of a DTR)

Restricted upgaze is the most common EOM abnormality

Front 556

Churg strauss

Back 556

asthma, eosinophilia and sinus/pulmonary involvement

Front 557

Bechets

Back 557

uveitis, orogenital ulcers, positive pathergy skin test

Front 558

pituitary blood supply

Back 558

superior and inferior hypophyseal arteries which arise from the ICA

Front 559

posterior pituitary releases

Back 559

ADH and oxytoxcin

Front 560

Central DI

Back 560

thirst, polydypsia and polyuria (common after neurosurgery)

urine osm is low

Tx allow access to water and administration of vasopressin

Front 561

cerebral salt wasting

Back 561

excessive renal losses of sodium; hyponatremia with hypovolemia; Tx is salt supplementation and isotonic fluids

Front 562

wet beriberi

Back 562

peripheral edema, cardiomegaly, cardiomyopathy, CHF, arrhythmia and tachycardia

Front 563

dry beriberi

Back 563

sensorimotor peripheral neurpathy with weakness and distal sensory loss

Front 564

garlic breath>rapidly ascending sensory loss and weakness mimiking GBS

Back 564

arsenic poisoning ; mees lines on nails

Front 565

almond odor

Back 565

cyanide

Front 566

alopecia and painful neuropathy

Back 566

thallium

Front 567

cherry red skin

Back 567

carbon monoxide and cyanide

Front 568

wrist and foot drop in a patient with encphalopathy

Back 568

lead poisoning

Front 569

optic nerve necrosis

Back 569

methanol poisoning

Front 570

globus pallidus necrosis

Back 570

carbon monoxide

Front 571

putamen necrosis

Back 571

methanol

Front 572

LSD

Back 572

no w/d

Front 573

DTRs in opiate vs sedative (EtOH/BDZ) w/d

Back 573

hyperactive in EtOH/sedative but not opiate

Front 574

reward circuit

Back 574

dopamine from midbrain to forbrain (ventral tegmental area and nucleus accumbens)

Front 575

amphetamines

Back 575

direct release of dopamine and NE and inhibit their reuptake

Front 576

MRI findings in Wernickes

Back 576

hemorrhage in mammillary bodies, hypothalamus, medial thalami and periaqueductal gray

Front 577

EtOH w/d

Back 577

minor 6-36hrs

sz 6-48hrs

hallucinosis 12-48hrs

DT 48-96hrs

Front 578

Caffeine

Back 578

antagonizes adenosine which normally inhibits release of excitatory neurotransmitters

Front 579

PCP

Back 579

nystagmus, decreased pain (often causing superhuman appearane of strenght); noncompetative NMDA antagonist

Front 580

B12 deficiency

Back 580

related to defect in methionine production (B12 is a cofactor for methionin synthase which then helps with methylation of MBP)

Front 581

mercury toxicity

Back 581

mad hatters disease; tremor, ataxia, salivation, psychiatric symptoms

Front 582

Botulism

Back 582

irreversibly inhibits acetylcholine relase by cleaving proteins (SNAP-25) involved in neuroexocytosi

Front 583

organophsphate posoining Tx

Back 583

atropine: competes with actylcholine at muscarinic receptors to help prevent cholinergic activation

pralidoxime: bind wtih both muscarinic and nicotinic receptors to help treat neuromuscular dysfunction

Front 584

cells of origin of the peripheral nervous system

Back 584

ectoderm, derived from neural crest cells

Front 585

cells of origin of vertebral bodies

Back 585

mesoderm of notochord

Front 586

ballon cells

Back 586

focal cortical dysplasia (a cortical development d/o of cell proliferation)

Front 587

holoprosencephaly

Back 587

failure of prosencephalon to divide into cerebral hemisphere and other structures. Problem during 4-8wks gesteation.

Front 588

reduced visual acuity, panhypopit, absent septum pellucidum

Back 588

septo-optic dysplasia

Front 589

smooth brain, small chin, thin upper lip, intractable seizure

Back 589

lissencephaly type I, Miller-dieker syndrome, L1S1 gene, chrom 17, d/o of microtubules and dynein

Front 590

DCX gene abnormality, phenotype and mode of inheritance

Back 590

lissencephaly type I, DCX gene, X-linked, gene mutation leads to smooth brain in males, double cortex in females

Front 591

three disorders associated with lissencephaly type II (cobblestone lissencephaly)

Back 591

Walker-Warburg, Fukuyama muscular dystrophy, and muscle-eye brain of Santavuori

Developmental delay, seizures, muscular dystrophy, eye abnormalities

Front 592

Prader-Willi and Angelman

Back 592

chrom 15q11-q13. Prader-Willi when paternally inherited, Angleman when maternally inherited

Front 593

mental retardation, low set ears, enlarged testes

Back 593

Fragile X, CGG trinucleotide repeat expansion

Front 594

developmental regression at approximately 6-18mnths, hand wringing and microcephaly

Back 594

Rett syndrome, MeCP2 gene mutation

Front 595

Cafe au lait spots

Back 595

NF-1

Front 596

Shagreen patch

Back 596

TS

Front 597

cutaneous neurofribroms

Back 597

NF-1

Front 598

gene in NF2

Back 598

Merlin gene, chrom 22

Front 599

gene in NF1

Back 599

neurofibromin gene, chrom 17

Front 600

axillary or inguinal freckling

Back 600

NF1

Front 601

sphenoid wing dysplasia

Back 601

NF1

Front 602

ashleaf spots

Back 602

hypopigmented, TS

Front 603

lymphangiomyomatosis

Back 603

TS; females>males

Tx tamoxifen

Front 604

treatement of hamartomas

Back 604

rapamycin

Front 605

multiple inctracranial AVMs

Back 605

hereditatary hemorrhagic telaniectasia or Osler-Wber-Rendu syndrome

Front 606

dental enamel pits

Back 606

TS

Front 607

hyperpigmented cutaneous lesions and leptomeningeal melanoma

Back 607

neurocutaneous melanosis

Front 608

multiple endrochondromas and secondary hemangiomas

Back 608

Mafucci syndrome

Front 609

retinal, cerebellar, and hemangioblastomas; chromosome and mode of inheritance

Back 609

von Hippel-Lindau disease, chrom 3, AD

Front 610

XLD d/o with skin lesions and variable neurologic involvement; gene

Back 610

incontinentia pigmenti; NEMO gene

Front 611

freckles, multiple skin and systemic maligancies, neuropathy, ataxia, cognitive decline; pathophys

Back 611

Xeroderma pigmentosa; due ot defect in DNA repair, leading to sensitivity to UV light

Front 612

brittle hair, b/l subdurals, developmental delay

Back 612

Menkes disease (kinky hair syndrome); copper deficiency due to copper transporter ATP7A mutation

Front 613

developmental delay, dysmorphic features, inverted nipples, and prominent fat pads; carbohydrate-deficient transferrin in the CSF

Back 613

Congenital d/o of glycosylation

Front 614

urine with musty odor

fair skin with blond hair

Back 614

PKU (deficiency of phenuylalanine hydroxylase which converst phenylalanine to tyrosine; AR)

Front 615

cystathionine-beta-synthase deficiency

Back 615

homocystinuria

Front 616

accumulation of branched chain amino acids (leucine, isoleucine and valine)

Back 616

maple syrup urine disease; encephalopathy with opisothotonus and abnormal movements

Front 617

MR, aggressiveness, self-mutilation, hyperuricemia (gout and nephrolithiasis)

Back 617

Lesch-Nyhan syndrome: hypoxanthine guanine phosphoribosyltransferase deficiency

Front 618

Gaucher cells

Back 618

wrinkled tissue paper cells, gaucher disease, glucocerebrosidease deficiency

Front 619

globoid cells

Back 619

krabbe disease: glactocerebroside beta-galactosidase deficiency

Front 620

beta-galactosidase deficiency

Back 620

GM1 gangliosidosis

Front 621

hexosaminidase A deficiency

Back 621

Tay-Sachs disease

Front 622

Hexosaminidase A and B deficiency

Back 622

Sandhoff disease

Front 623

Acid sphingomyelinase deficiency

Back 623

Niemann-Pick types A and B

Type A involves the CNS (cherry red spot is common)

Type B (does not involve the CNS)

Front 624

d/o of cholesterol trafficking in the intracellular domain

Back 624

Niemann-Pick type C

Front 625

Arylsulfatase A deficiency

Back 625

metachromatic leukodystrophy

Front 626

Fabry's enzyme

Back 626

alpha-galactosidase deficiency

Front 627

symmetric white matter involvement predominatly in the posterior regions, sparing the U fibers

acumulation of vLCFA and ACTH (2/2 adrenal insufficiency)

Back 627

Adrenoleukodystrophy: Acyl coenzyme A synthetase deficiency

Tx Lorenzos oil

Front 628

Megalencephaly, symmetric white matter involvement predominantly in the anterior regions, Rosenthal fibers on path

Back 628

Canavan disease; aspartoacylase deficiency (accumulation of N-acetylaspartic acid--can see a peak on MRI)

Front 629

megalencephaly, symmetric white matter involvement predominantly in the anterior regions, rosenthal fibers on path

Back 629

Alexander disease; mutations in glial fibrillary acidic protein

Front 630

white matter demyelination with tigroid appearance sparing the U fibers; inttermittent nodding movemnts of the head, pendular nystagmus

Back 630

Pelizaeus-Merzbacher disease; gene PLP1-Xlinked

Front 631

kinky hair

Back 631

Menkes disease

Front 632

progressive external opthalmoplegia, onset <20yrs, short stature, ataxia, heart block, retinitis pigmentosa, CSF pro >100

Back 632

Kearns-Sayre syndrome; if heart block get a pacer

Front 633

feeding difficulties, vomiting, diarrhea, jaundice, hepatosplenomagaly, FTT, cataracts, reducing substances in the urine

Back 633

galactosemia (three enzynes can be mutated but only galactose-1-phosphate uridyltransferase is associated with MR)

Front 634

hyperammonemia, encephalopathy and respiratory alkalosis

No evidence of organic acidemias, normal anion gaps and normal serum glucose level

Back 634

urea cycle disorder

Front 635

newborn with ketoacidosis, anion gap, elevated propionic acid level; bleeding d/o

Back 635

Propinic acidemia; AR

Front 636

alopecia, skin rash, hypotonia, seizures, optic atrophy, hearing loss and hyperammonemia

Back 636

biotinidase deficiency (normally cleaves biocytin and recycles biotin)

Front 637

psychomotor retardation, myoclonic seizures, and blindness; intraneuronal deposits seen on electron microscopy (fingerprint bodies, granular osmiophilic deposits, curvilinera bodies and rectinlinera profiles)

Back 637

NCL

Front 638

myoclonic epilepsy and cherry red spot; coarse fasial features

Back 638

sialidosis

Front 639

notochord

Back 639

layer of mesodermal cells in contact with the ectoderm induces formation of the neural plate (later gives rise to the vertebral column) at 3-6wks

Front 640

rhombencephalon

Back 640

brain stem

Front 641

pyruvate dehydrogenase

Back 641

responsible for oxidative decarboxylation of pyruvate to carbon dioxide; XL is th emost common

lactic acidosis (with low lactate/pyruvate ratio); episodic or progressive ataxia/nystagmus, dysarthria, lethargy, wekaness, hypotonia and psychomotor retardation

Tx keotgenic diet and thiamine supplementation

Front 642

renal artery stenosis

Back 642

can be assoicated with NF1

Front 643

GLUT-1

Back 643

AD

Front 644

Chiari II

Back 644

displacement of the cerebellar vermis and tonsils in association with myelomeningocele

Front 645

accumulation of what in Fabrys

Back 645

ceramide trihexoside; lysosomal storage of birefringent lipids on path

Front 646

common in Finland

Back 646

infantil form of NCL

Front 647

foramen of Monroe

Back 647

connects latral ventricle to third ventricle

Front 648

cerebral aqueduct

Back 648

connects thrid and fourth ventricles

Front 649

Zellwegers syndrome

Back 649

cerebrohepatorenal sydrome; peroxisomal d/o; PEX gene; increased vLCFA; sometimes pachygyria or polymicrogyria

Front 650

leigh's disease

Back 650

mitochondrial; hypotonia, myoclonus, atqaxia, opthalmoplegia

Front 651

Kearns Sayre

Back 651

mitochondrial DNA deletions, opthalmoplegia, short stature, retinitis pigmentosa, ataxia, heart block and increased CSF pro >100

Front 652

Congenital disorder of glycosylation

Back 652

Type I: abnl synthesis of glycans

Typel II: abnormal processing and modification of gylcans>>profound MR

lipdystorphy with prominent fat pads in the buttocks and suprapubic area; invertited nipples

Front 653

splashed on skin lesions

Back 653

incontinetia pigmenti; XLD (only females); NEMO gene

Front 654

d/o neuronal migration

Back 654

lissencephaly, periventricular nodular heterotopias

Front 655

d/o of neuronal proliferation

Back 655

megalencephaly and focal cortical dysplasia

Front 656

d/o of cortical organization

Back 656

polymicrogyria and schizencephaly

Front 657

NF1

Back 657

TWO or more of;

-six or more cafe au lait macules

-two or more cutaneous neurofibromas or one plexiform neuromas

-inguinal or axillary freckling

-optic nerve gliomas

-two or more lisch nodules

-NF1 in first degree relative

-sphenoid whing dysplasia

Front 658

homocystinuria

Back 658

AR; deficiency in cystationine-beta-synthase; produces elevation of blood and urine homocysteine and methionine (two variants one is pyridoxine reponsive and the other is not)

Collagen metabolism is affected (ectopia lentis, marfanoid habitus, osteoporosis)

Front 659

heterotopia

Back 659

cluster of abnormally located neurons that are otherwise normal

Front 660

periventricular nodular heterotopia

Back 660

neurons never begun to migrate but rather remined in the subventricular area (where cortical neurons originate); in more than 1/2 the cases this d/o results from mutations in the FLNA gene

Front 661

urea cycle d/o

Back 661

most common is orthinine transcarbamylase deficiency (Xlinked) but the others are AR; hyperammonemia, encephalopathy and respiratory alkalosis

Front 662

porencephaly

Back 662

not lined with grey matter (like schizencephaly)

Front 663

Rett syndrome

Back 663

regression at 6-18mnths; hand wringing and ohter motor stereotypies; MECP2 mutation

Front 664

facial angiofibromas

Back 664

resemble acne, TS

Front 665

periungual fibroma

Back 665

TS

Front 666

methylmalonic acidemia

Back 666

accumulation of propionyl-CoA and methylmal; AR, hematologic d/o leading to bleeding, metabolic acidosis, ketosis, hyperglycinemai and hyperammonemia

Front 667

Betz cells

Back 667

UMN of thenervous system found in the primary motor cortex

Front 668

corticocortical efferents (projections from one area of the cortex to another)

Back 668

mainly area III (external pyramidal layer)

Front 669

corticostriate projections

Back 669

layer V-internal pyramidal cell layer

Front 670

corticothalmaic projections

Back 670

layer VI-multiform layer

Front 671

Gaucher disease

Back 671

AR; glucocerebrosidease deficiency (leads to accumulaitono f glucocerebrosides);

Type 1: no CNS involvement

Type 2/3 with CNS involvement

Gaucher cells with wrinkled tissue paper apperance

Front 672

Tay Sachs

Back 672

GM2 gangliosidosis

hexominidase A deficiency

AR

increased startle, cherry-red spot, seizures, optic atrophy

Front 673

Sandhoff disease

Back 673

GM2 gangliosidosis

Hexompenidase A and B

AR

causes hepatosplenomegaly not seen in Tay-Sachs

Front 674

Sturge Weber

Back 674

gyral calcifications from angiomatosis of the leptomeninges and brain; port wine nevus (some pt have only cutaneous findings without CNS involvement but can see hemiatrophy)

Front 675

Neurofibromin

Back 675

NF1; GTPase inhibits ras (proto-oncogene)

Front 676

nonketotic hyperglycinemia

Back 676

partial agenesis of the corpus callosum and high CSF gycine; hiccups

Front 677

Krabbe disease

Back 677

globoid cell leukodystrophy; AR; demylination of the periventricular white mattersparing hte U fibers; deficiency in galactosylceramidase

Front 678

GM1 gangliosidosis

Back 678

deficiency of beta-galactosidase; cherry red spot with coarse facial features and HSM

Front 679

Alexander disease

Back 679

mutation in gene for glial fibrillary acidic protein; diffuse white matter signal hyperintensity in the frontal lobes with involvement of the U fibers; "tadpole sign"; Rosenthal fibers

Front 680

TS inheritance

Back 680

AD inheritance with variable penetrance or sporadic

mutation in TSC1 on chrom 9 encoding tuberin

or

mutation in TSC2 on on chrom 16 for protein hamartin

Front 681

Hunter syndrome

Back 681

XLinked mucopolysaccharidosis (imparied lysosomal degredation of glycosaminogycanse----all are AR except Hunters which is Xlinked)

have nodular ivory-colored lesions on back/shoulders and upper arms

Front 682

Iduronate sulfatase

Back 682

hunter syndrome (mucopolysaccharidoses); Xlinked; accumulation of dermatan and heparan

Front 683

alpha-L-iduronidase deficiency

Back 683

Hurler syndrome (mucchopolysaccharidoses); accumulation of dermatan and heparan

Front 684

Epidermal nevus syndrome

Back 684

epidermal nevi are slightly raised parches of hyperpigmentation that are present at birth; not all patients have neurologic manifestations; can have hemimegalencephay i/l to facial nevus

Front 685

AIP

Back 685

deficiency of specific enzyme involved in heme biosythetic pathyway; AD fashion; AD; elevated ALA and porphobilinogen

Sz>clonazepam/gabapentin (many AEDs can precpittate attacks)

Front 686

Channelopathies

Back 686

Hypokalemic periodic paraylis: calcium

Paramyotonia congenita: sodium

Myotoia congenita: chloride

Anderson's syndrome: potassium

Front 687

SSEP

Back 687

N14: cervicomedullary junction

N9: erbs point