Neuro Final 3: Diseases

Front 1

Myelin ptn responsible for CNS tight junc?

Back 1

PLP (proteolipidprotein)

Front 2

Myelin ptn responsible for PNS tight junc?

Back 2

P0 ptn

Front 3

CNS myelin injected into rats will cause encephalomyelitis. This serves as a model for ___

Back 3

Model for MS

Front 4

CHARCOT-MARIE-TOOTH DX
Gene?
Result?

Back 4

PMP22 GENE
Results in Dysmyelination
2x the gene = 2x the ptn!

Front 5

Ptn assoc with myelin mouse "shiverer"?

Back 5

MBP (myelin basic ptn)

Front 6

PNS myelin injected into rats caused experimental allergic neuritis, lends support to theory about ______

Back 6

Guillain-Barré Syndrome

Front 7

Natalizumab: New hope for MS tx? how?

Back 7

Inject Mab against WBC adhesion molecules

Front 8

Using linkage analysis HDx was mapped to a _ _ _ repeat on Chromsome ______

Back 8

CAG trinucleotide repeat on Chromosome 4p

Front 9

Genetic Anticipation of HDx is more likely with paternal inheritance, Why?

Back 9

Sperm cells have higher mutation rates- are more likely to develop mut gene

Front 10

Polymorphism in _____ (kainate receptor) is assoc. with 5 yr earlier age of onset

Back 10

GluR6

Front 11

T/F ApoE4 gene is protective in HDx but causative in Alz Dx

Back 11

True, also ApoE2/3 (though protective for Alz Dx) is assoc. with earlier age onset for HDx!!!

Front 12

What Ω fatty acid is protective for HDx

Back 12

Ω-3 FA

Front 13

FUN FACT: AD dxs usually involve neurons and have characteristic nucl inclusions, how is this true for HDx?

Back 13

misfolded ptns (d.t. CAG repeats on 4p) become trapped & aggregate in the nucleus causing INCLUSIONS

Front 14

T/F Symptoms of HDx will only appear after nuclear inclusions/atrophy become visible

Back 14

FALSE: Symptoms of HDx will appear DECADES before neuron start dying

Front 15

One big target of mutant Htt appears to be ______: a key regulator of mitochondrial func.

Back 15

PGC-1 dysregulation is linked to metabolic problems in HD e.g. cachexia

Front 16

HDx Atrophy:
______ >parietal > total
______ > Puamen >GPe/GPi

Back 16

Frontal Lobe atrophy
Caudate Nuc atrophy

Front 17

In HDx, ______ neurons die before large neurons, & _______ _______ _________ neurons die which causes chorea/writhing

Back 17

1. smaller neurons die before larger neurons
2. medium spiny striatal neurons normally dampen motor activity; CAUSE CHOREA/WRITHING when gone!

Front 18

Master ptn chaperone of cell?

Back 18

Ubiquitin!

Front 19

Most common cause of death in HDx?

Back 19

INFECTION

Front 20

Most common cause of death in HDx?

Back 20

INFECTION

Front 21

Three rx's that can reduce craving:
1.
2. alprazolam
3.

Back 21

1. gabapentin
2. alprazolam
3. buprenorphrine

Front 22

NAME THE DX:
PrPsc ß-sheets
Ubiquitin inclusions
Dead in 7 months
Fatal insomnia

Back 22

Creutzfeldt-Jakob Disease

Front 23

In normal ppl Codon 129 is heterozygotic with MV (AAs)
CJD is homozygotic with MM or VV. What are M & V

Back 23

Methionene and Valene

Front 24

NAME THE DX:
Paraventricular plaques (esp.lateral ventricles)
Intranuclear Opthalmoplegia
Incontinence
CNS pallor

Back 24

MS (CNS only)

Front 25

NAME THE DX:
Frontal lobe atrophy
DECREASED lvls of ACh
Neuritic PLAQUES
Neurofibrillary TANGLES

Back 25

Alzheimer Dx

Front 26

What do these 3 have in common? Name their chromosomes:
APP= Chrom __
presenilin-1 Chrom __
presenilin-2 Chrom __

Back 26

All are assoc w/early ADx
APP=Chrom. 21
Presenilin-1= Chrom. 14
Presenilin-2= Chrom. 1

Front 27

This allele is protective for Alz Dx: ______
What Chromosome is it found on?

Back 27

ApoE2 on Chromsome 19 is PROTECTIVE for Alz Dx

Front 28

Name two places a man can go lookin fer neuritic plaques/tangles:

Back 28

1. ENTORHINAL CORTEX
2. Sommer Sector

Front 29

A pt with two ______ alleles (who is also a boxer) is at highest risk for Alz dx

Back 29

ApoE4 on Chromosome 19

Front 30

Tau ptns and amyloid plaques are components of what?

Back 30

Neurofibrillary TANGLES (tau) and Neuritic PLAQUES (amyloid)

Front 31

Alpha&Gamma secretases normally cut Aß-peptide into soluble ptns.



________ cuts Aß secretase into amyloid ptns + ß-aggregates (plaques + tangles)

Back 31

ß-secretase is the DEVIL!
-makes plaques & tangles

Front 32

NAME THE DX:
-Fronto/Striatal/Temp atrophy (sparing of 2/3 posterior temporal gyri)
-3 to 10 yr prognosis
-Knife-edge gyri
-Indistinguishable from Alz Dx

Back 32

Pick Dx

Front 33

What are Pick bodies? What's inside them?

Back 33

SQUAT LIL FAT NEURONS!!!
-straight & paired helical filaments
-3R tau ptn

Front 34

NAME THE DISEASE:
-Pallor of Subst. Nigra-c/Locus Ceruleus
-"Cog-wheel" rigidity
-Festinating gait
-α-synuclein on Chrom 4q21

Back 34

Parkinson Dx

Front 35

The area for Parkinson Dx?

Back 35

Basal ganglia +brain stem
-epicenter: negrostriatal pathway

Front 36

The main genetic offender for PDx?

Back 36

Chromosome 4q21 (α-synucleins!)

Front 37

Symptoms of PDx do not begin to appear until _____% of DA is lost

Back 37

80% DA depletion before symptoms appear!

Front 38

What are Lewy bodies? Where does one find them

Back 38

They're LRTs!!! (LIL ROUND THINGS in the neuron) Found esp. in cingulate gyri & basal nucleus of Maynert.

Front 39

Another name for MOTOR DISEASE only?

Back 39

Amyotrophic Lateral Sclerosis (ALS)

Front 40

First sxs of ALS?
1. _______
2. _______

Back 40

1. Forearm cramps
2. Fasiculations

Front 41

What's the last set of CNN to be hit by ALS?

Back 41

CNN III- Oculomotor Nuc stays intact until the very end (if at all)

Front 42

Is ALS a demyelinating dx?

Back 42

NO!
MS, PML, Charcot-Marie-Tooth, Optic Neuritis are demyelinating dx's

Front 43

Most common lesion in ALS?

Mut on Chrom __: Cu+/Zn+ SOD1 (what does SOD stand for?)

Back 43

Chromosome 21: SuperOxideDismutase-1

Front 44

Mis-folded SOD1 ptns cause endoplasmic retic. stress, which leads to:
1. ______
2. ______
3. Apoptosis

Back 44

1. Slowing of ptn translation
2. Activation of caspases
3. Apoptosis

Front 45

ER stress is linked to HDx, Alz Dx, PDx, and possibly ____

Back 45

Type II Diabetes

Front 46

If a drunk encephalopathy walks into your ER, what should be on your differential?

Back 46

VITAMIN B1 DEFICENCY (Acute Werknicke's Encephalopathy)
VITAMIN B12 DEFICIENCY
(ataxia, numbness, paralysis- cord atrophy)

Front 47

NAME THE DISEASE:
-abrupt psychosis in EtOH
-opthalamoplegia
-Quadrigeminal plate/ mammilary body necrosis

Back 47

Vitamin B1 deficiency- Purkinje cells are gone G-O-N GONE! Bergman gliosis remains (lil bastards 'd survive a Holocaust)

Front 48

Bad hooch will kill your reinal ganglion cells & cause ______ necrosis.

Back 48

Putaminal necrosis- METHANOL

Front 49

NAME THE DISEASE:
-bad billirubin made
-generalized cerebral edema
-lethal in premies

Back 49

Kernicterus

Front 50

3 things that cause generalized cerebral edema:
1.
2.
3.

Back 50

1. Reye's Syndrome *don't argue
2. Pb+ poisoning
3. Kenicterus (bad billirubin)

Front 51

3 diseases assoc with the Sommer secter:
1.
2.
3.

Back 51

1. Alz dx
2. Hypoxic damage
3. CO Poisoning

Front 52

Seizures where you "drop" to the floor (often mistaken for fainting)?

Back 52

Atonic szr

Front 53

Difference btw Simple partial & Complex partial szrs?

Back 53

Simple- Consciousness intact
Complex- Impaired Consciousnes