Myelinating Disorders, Seizures and Neurocutaneous disorders Flashcards Preview

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Flashcards in Myelinating Disorders, Seizures and Neurocutaneous disorders Deck (35):
1

What kind of people have increased risk of developing Alzheimer?

Down Syndrome

2

MCC dementia?

Alzheimer

3

APP presenilin-1, presenilin-2: 􏰂 risk of?

early onset (1,2 year old kids)

4

With ApoE4 is there increased or decreased risk?

Increased

5

What gross findings do you see in Alzheimer Dementia?

Widespread cortical atrophy. Narrowing of gyri and widening of sulci

6

Alzheimer amyloid can deposit where? causing what?

amyloid angiopathy=> intracranial hemorrhage

7

What is the problematic protein?

Αβ (amyloid-β)

8

With Alzheimer disease, you see a neurofibrillary tangle, what is made of?

intracellular, hyperphosphorylated tau protein=>insoluble cytoskeleton elements

9

Frontotemporal (pick's disease) vs Alzheimer?

Frontotemporal-pick's disease=> earlier onset (50-60)+personality changes

Alzheimer=> (60+)+memory changes

10

In pick's disease you get pick's bodies; what are they?

silver-staining spherical tau protein aggregates

you pick your spherical boogers

11

Early onset dementia and visual hallucinations

Lewy Body Dementia
(“haLewycinations”)

12

Rapidly progressive (weeks to months) dementia with myoclonus (“startle myoclonus”)?

CJD

13

In CJD, prion PrP C becomes? What is the consequence?

C=>SC

=>B-pleated sheet resistant to proteases

14

CJD prions have what EEG?

Spiked wave complex on EEG

15

2nd most common cause of dementia in elderly?

Multi-infarct (aka vascular) dementia

16

Autoimmune inflammation and demyelination of oligodendrocytes?

MS

17

Who does MS most commonly affect?

20-30 year old white woman who has eye symptoms

18

What is the SIN in MS?

Scanning speech
ƒIntention tremor (also Incontinence and
Internuclear ophthalmoplegia=>Bilateral MLF) ƒ
Nystagmus

19

What Dx of MS?

Oligoclonal bands

20

MS is associated with?

HLA-DR2

two words in MS

21

MS symptoms are seen after taking a?

Hot Shower

22

With MS, how will patients eye react to light if the affected eye is the right?

Light on Right=>No change

Light On Left=>Both eyes constrict

23

destroys Schwann cells?

GBS

24

What do you see with GBS?

Increased CSF protein with normal cell count=>albuminocytologic dissociation

25

What eye problem can you get with GBS?

Increased protein may cause papilledema.

26

GBS is associated with? MOA?

Campylobacter jejuni, viral

Moleculary Mimicry

27

Demyelination of CNS due to destruction of oligodendrocytes associated with JC virus?

PML

28

Natalizumab and rituximab do what?

Increase risk of PML

29

X-linked genetic disorder with metabolism of very-long-chain fatty?

Adrenoleukodystrophy

30

Very long chain fatty acids are found in a defect of?

Peroxisomes

31

1st Step in Seizures, Then what do you do? Which ones lose consciousness?

Arms=>Both=>generalized=>Myoclonic vs Tonic clonic (Consciouss lost)
VTLL

One arm=>Focal=>Simple vs Complex (Consciousness)
CGPP

32

Sturge-Weber Syndrome

anomaly of neural crest derivatives
GNAQ gene
Port Wine Stain

33

HAMARTOMAS?

HAMARTOMAS: Hamartomas in CNS and skin; Angiofibromas C ; Mitral regurgitation; Ash-leaf spots D ; cardiac Rhabdomyoma; (Tuberous sclerosis); autosomal dOminant; Mental retardation (intellectual disability); renal Angiomyolipoma E ; Seizures, Shagreen patches.

34

Neurofibromatosis type I (von Recklinghausen disease)

Café-au-lait spots F , Lisch nodules (pigmented iris hamartomas G ), cutaneous neurofibromas H

35

What is wrong in NF 1?

Mutated NF1 tumor suppressor gene (neurofibromin, a negative regulator of RAS) on chromosome