Neuromusculoskeletal Ii-Exam 2 (Dr. Lovell)

Front 1

Chr14: presenilin 1
Chr1: presenilin 2
Chr21: APP
These 3 genes are all involved in early onset of this disease.

Back 1

AD

Front 2

cortex: atrophy, degeneration of neurons
hippocampus: memory deficits
basal nucleus of meynert & basal forebrain: degeneration of basal forebrain cholinergic neurons

Back 2

AD

Front 3

progressive dementia:
1. progressive decline in short-term memory
2. lang/speech difficulties
3. visuospatial disorientation
4. apraxia
5. personality changes

Back 3

AD

Front 4

-Most common cause of dementia in US.
-Imparied memory, cognition, functional decline.
-Equal: men/women
-50% of 85+ YO
-Down's (trisomy 21) is risk factor

Back 4

AD

Front 5

Large amts. of senile/neuritic plaques (with amyloid beta) and neurofibrillary tangles (with large amts. of phosphorylated tau protein) are necessary for diagnosis of what disease?

Back 5

AD

Front 6

cortical atrophy (same as AD)

Back 6

DLB

Front 7

1. dementia
2. parkinsonisms: bradykinesia, tremor, resistant to L-DOPA, hallucinations
Dementia + Hallucinations=DLB
3. cognitive changes different than those seen in PD

Back 7

DLB

Front 8

What abnormal protein deposits are found in the cortex, basal ganglion, & substantia nigra--in what disease?

Back 8

LB's, DLB

Front 9

What abnormal protein contains deposits of alpha-synuclein & ubiquitin?

Back 9

LB

Front 10

In what brain structure are LB's well defined? What disease process does this involve?

Back 10

Substantia Nigra, DLB

Front 11

In what brain structure are LB's ill defined? What disease process does this involve?

Back 11

Cortex, DLB

Front 12

What disease causes progressive dementia, with an unknown cause?

Back 12

FTD

Front 13

-No plaques, tangles, or lewy bodies
-lesions in frontal/temporal cortex-->"blade-like gyri"

Back 13

FTD

Front 14

-Non-Alzheimer's Dementia, affects Frontal and Temporal Lobes
-Personality change, language dysfunction, and affective symptoms

Back 14

FTD

Front 15

1. Loss of neurons
2. Extreme atrophy of frontal and temporal lobes
3. Tau Protiens inclusions

Back 15

FTD

Front 16

Variant of FTD

Back 16

Pick's Disease (Lobar Atrophy)

Front 17

Extreme Atrophy limited to frontal and temporal lobes of brain.
-Neurons distend/stain + for ubiquitin inclusions

Back 17

Pick's Disease (Lobar Atrophy)

Front 18

-Cerebral atrophy with gliosis and loss of cortical neurons, especially affecting temporal and frontal lobes.
-rare
-onset~60 YO
-ubiquitin marks the abnormal proteins for destruction

Back 18

Pick's Disease (Lobar Atrophy)

Front 19

What are round/ovoid intraneural cytoplasmic inclusions containg p-lated tau called? What diesease process are they involved in?

Back 19

Pick Bodies, Pick's Disease (Lobar Atrophy)

Front 20

A patient presents with dementia and no other specific features, what disease does he most likely have?

Back 20

AD

Front 21

Patient presents with dementia and hallucinations, what disease does the patient most likely have?

Back 21

DLB

Front 22

Patient with dementia and an autopsy report shows severe atrophy of the brain in the frontal and temporal regions. How did the patient die?

Back 22

FTD

Front 23

-expanded polygluatamine repeat in exon
-anticipation
-autosomal dominant

Back 23

Huntington's Disease

Front 24

-Atrophy of the Straitum (caudate and the putamen), cortex, globus pallidus
-Atrophy in caudate nucleus causes boxcar ventricles

Back 24

Huntington's Disease

Front 25

Clinical presentation involves chorea, behavioral and cognitive changes

Back 25

Huntington's Disease

Front 26

1.Striatum Atrophy
2.Trinucleotide Repeat Disease
3.Neuronal Loss
4.Gliosis
5.NO Inclusion Bodies
6.Onset 35-40 YO

Back 26

Huntington's Disease

Front 27

-Synuclein protein, this is the major protein found in what? What disease is synuclein protein involved in?

Back 27

Lewy Bodies, Parkinson's Disease

Front 28

LB's which cause degeneration of the neurons in the substantia nigra-->decrease dopamine-->depigmentation

Back 28

Parkinson's Disease

Front 29

1.Resting Tremor
2.Bradykinesia
3.Rigidity
4.Gait Instability

Back 29

Parkinson's Disease

Front 30

Microscopically-->see LB's which have a dense core and a clear halo.

Back 30

Parkinson's Disease

Front 31

-autosomal recessive
-decrease plasma binding of Cu
-can be reversed by a Cu chelator

Back 31

Wilson's Disease

Front 32

Effects the basal ganglion, this is a disease of theliver and of the lens

Back 32

Wilson's Disease

Front 33

-cornea has manifestation of Kayser-Fleischer Rings
-occurs in adolescents and young adults
-movement disorders such as dystonia
-behavioral, cognitive changes

Back 33

Wilson's Disease

Front 34

Copper deposits (toxic levels) in: liver, cornea, basal ganglia (lenticular nuclear=putamen + globus pallidus)

Back 34

Wilson's Disease

Front 35

Chr21 that affects copper/zinc superoxide dismutase gene

Back 35

ALS

Front 36

Skeletal muscle atrophy, lateral column degeneration due to corticospinal tract degeneration, atrophies of the spinal roots

Back 36

ALS

Front 37

-Rapidly progessive UMN & LMN failure leading to death, most often respiratory failure
-UMN-->increased reflexes
-LMN-->fasiculations

Back 37

ALS

Front 38

-UMN degeneration-->cortical atrophy-->degeneration of the lateral cortical spinal tract
-LMN degeneration-->anterior motor neurons of spinal cord
-skeletal muscle atrophy

Back 38

ALS

Front 39

-Autosomal recessive trinucleotide repeat in intron-->affects regulation of gene expression

Back 39

Friedreich's Ataxia

Front 40

Lesions occur in:
1.DRG
2.Spinal Cord
3.Cerebellum

Back 40

Friedreich's Ataxia

Front 41

1.Gait Ataxia
2.Cerebellar Incoordination
3.Sensory Deficits
4.Cardiac & other abnormalities

Back 41

Friedreich's Ataxia

Front 42

Onset ~10 YO (before 25 YO typically)

Back 42

Friedrich's Ataxia

Front 43

-protein with abnormal configuration
-replicates by transforming a normal protein into an abnormal conformation
-are resitant to degradation
-accumulate in specific cell types-->cause disease b/c of neuronal cell death

Back 43

Prion Disease

Front 44

-Characteristics of Disease: Progressive neurological deterioration, heterogenous phenotype for a variety of reasons.

Back 44

Prion Disease

Front 45

-Normal conformation of protein is an alpha-helix
-Abnormal conformation of protein=B-pleated sheets which are protease resistant and form aggregates

Back 45

Prion Disease

Front 46

Codon at 129: Met/Val
Codon at 178: Asp

Back 46

Normal Prion Protein

Front 47

Codon at 129: Val
Codon at 178: Asn

Back 47

CJD with cortex lesions

Front 48

Codon at 129: Meth
Codon at 178: Asn

Back 48

-CJD with lesions to thalamus & superior olive
-Pt presents with Fatal Familial Insomnia

Front 49

-Clinical course is dementia with myoclonus and progressive neurological decline.
-Death usually occurs in less than a year after onset of symptoms.

Back 49

CJD

Front 50

-Pathological changes include spongiform encephalopathy.
-Also neural necrosis

Back 50

CJD

Front 51

-Usually under 45 yo
-Behavioral changes more prominent and ataxia presents early on
-All had characteristics of codon 129 which made them more susceptible

Back 51

Variant CJD in Great Britain, AKA Mad Cow Disease

Front 52

An infection of Bovine Spongiform Encephalopathy causes what disease?

Back 52

Variant CJD in Great Britain, AKA Mad Cow Disease

Front 53

-CNS lesion: cerebral & cerebellar cortex
-Motor nerves affected
-Children: CNS & PNS
-Adults: PNS

Back 53

Lead Poisoning

Front 54

CNS: edema, white matter necrosis, vascular proliferation, glial proliferation, neuron damage
PNS: segmental demyelination & axon degeneration

Back 54

Lead poisoning

Front 55

CNS effects (esp children):
-acute-->increased ICP, seizure
-chronic-->cognitive effects

PNS: segmental demyelination of motor nerves-->wrist/foot drop, slowed nerve conduction, later axonal degeneration

Back 55

Lead poisoning

Front 56

Results primarily in sensory neuropathy

Back 56

Arsenic Poisoning

Hint 56

arSENic poisoning results in SENsory neuropathy

Front 57

Permanent deficits in 4 locations:
1.Cerebral cortex (laminar necrosis)
2.Hippocampus (pyramidal cells)
3.Cerebellum (purkinje cell death)
4.Globus Pallidus necrosis ***
(Globus Pallidus shows discoloration signaling a movement disorder)

Back 57

CO toxicity

Front 58

Etiology is hypoxia

Back 58

CO toxicity

Front 59

Symtoms: HA, dizzy, confusion

Back 59

CO toxicity

Front 60

Lesion Location:
-Anterior horn
-Posterior columns

Back 60

B1/thiamine deficiency: alcoholic polyneuropathy

Front 61

Etiology:
-Due to thiamine deficiency-->bad nutrition

Back 61

B1/thiamine deficiency: alcoholic polyneuropathy

Front 62

-Myelin and axon degeneration in anterior horn
-posterior root degeneration & 2ndary degeneration of posterior columns

Back 62

B1/thiamine deficiency: alcoholic polyneuropathy

Front 63

Symptoms:
-numbness, paresthesias, weakness
-motor and sensory weakness, mostly distal

Back 63

B1/thiamine deficiency: alcoholic polyneuropathy

Front 64

confusion, opthalmoplegia, and ataxia
This classic triad of symptoms occurs in what illness

Back 64

Wernicke's Encephalopathy

Front 65

What occurs first, WE or KP?

Back 65

WE

Front 66

1.Is WE or KP reversible if given thiamine?

Back 66

WE

Front 67

-irreversible, causing memory disturbance and confabulation

Back 67

KP

Front 68

Lesion location:
1. periaqueductal gray matter including third nerve nuclei and MLF-->causes opthalmoplegia
2. floor of 4th ventricle including the vestibular nucleus-->causes ataxia

Back 68

WP

Front 69

Lesion location:
-mamillary bodies, medial dorsal thalamus-->cause memory deficits and cognitive symptoms
-mamillary body lesions look red b/c of hemorrhage

Back 69

KP

Front 70

-small petechial hemorrhages in mamillary bodies
-vascular changes: endothelial prominence & petechial hemorrhages
-neuronal necrosis
-macrophage response & gliosis

Back 70

B1/thiamine deficiency: WE & KP

Front 71

Lesion Location:
-spinal cord-thoracic (primary myelin sheaths-->degen axons)-->reversible
-dorsal columns-->involved early
-lateral columns-->corticospinal tract, spinothalamic tract-->contributes leg involvement

Back 71

Vit B12 deficiency

Front 72

-Decreased intake, impaired absorption (IF def/pernicious anemia)
-Folic acid: releive anemia (not neuro def)

Back 72

Vit B12 def

Front 73

-Motor & sensory degeneration
-Ataxia-->caused by sensory deficits or cerebellar deficits
-Sensory def (numb/tingling)
-Loss of vibration, proprioception, pain
-LE weakens (due to thoracic spinal cord)
-Increased deep tendon reflexes/Babinski signs
-Fatigue

Back 73

Vit B12 deficiency

Front 74

-Associated with elevated blood ammonia levels-->cause toxicity in brain
-Symptoms: Disturbances in consciousness, motor abnormalities

Back 74

Hepatic Encephalopathy