483-485 (except seizures) Flashcards Preview

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Flashcards in 483-485 (except seizures) Deck (39)
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1

What chromosome is APP found on?

21

2

What chromosome is presenilin-1 found on?

14

3

What chromosome is presenilin-2 found on?

1

4

What chromosome is ApoE4 found on?

19

5

Is ApoE4 associated with early or late onset Alzheimer's?

Late

6

What is the neurotransmitter imbalance in Alzheimer's?

↓ Ach

7

What are two histological findings associated with Alzheimer's

1. senile plaques
2. neurofibrillary tangles

8

What are senile plaques? What might they cause?

they are extracellular with a β amyloid core, and may cause amyloid angiopathy → intracranial hemorrhage

9

What are NFTs?

intracellular accumulation of hyperphosphorylated tau protein (insoluble cytoskeletal elements)

tangles correlate with degree of dementia

10

What are 4 key signs of Pick disease?

1. dementia
2. aphasia
3. parkinsonian aspects
4. change in personality

11

What areas of the brain are spared in Pick disease?

parietal lobe and posterior 2/3 of superior temporal gyrus

12

What histological/gross findings are characteristic of Pick disease?

spherical tau protein aggregates; frontotemporal atrophy

13

What is the clinical course of Lewy body dementia?

Initial dementia and visual hallucinations followed by parkinsonian features?

14

What is defected in Lewy body dementia?

α-synuclein

15

How does CJD present?

Rapidly progressive (wks-months) dementia with myocolonus

16

What are the gross and histologic findings of CJD?

Gross: spongiform cortex
Histo: Prions in β pleated sheet resistant to proteases

17

What are 6 "other" causes of dementia?

1. multi-infarct (2nd most common cause of dementia in elderly)
2. syphilis
3. HIV
4. vitamin B1, B3, B12 deficiency
5. Wilson disease
5. NPH (normal pressure hydrocephalus)

18

What are Marcus Gunn pupils? What condition are they found in?

In swinging light test, pupil is constricted when shining light in opposite eye, but less constricted when swing light over to the affected eye (so it looks like it's dilating). It is a problem with the afferent part of the pupillary light reflex commonly associated with MS.

19

Classic "triad" of MS

SIN
Scanning speech
Intention tremor/ Incontinence / Internuclear opthalmoplegia
Nystagmus

20

Diagnostic finding for MS in CSF?

↑ protein (IgG) → oligoclonal bands

21

Treatments for MS?

Acute
- steroids

Chronic
-IFN-β (reduces relapses, not for progressive form of MS),
- natalizumab (prevents transmigration)

Symptomatic
- for neurogenic bladder: catheterization, muscarinic antagonists [eg. oxybutynin]
- for spasticity: GABA receptor agonist s.a. baclofen
- pain: opiods

22

What is the most common variant of Guillain-Barré syndrome?

Acute inflammatory demyelinating polyradiculopathy

23

What is Guillain-Barré syndrome?

Autoimmune condition that destroys Schwann cells, causing demyelination of peripheral nerves and motor fibers.

24

What are two infections associated with Guillain-Barre?

C. jejuni, CMV

25

What proportion of patients w/ G.B.S. develop facial paralysis?

50%

26

What are some autonomic findings associated with G.B.S.?

cardiac irregularities, hypertension, hypotension

27

Treatment for GBS?

Respiratory support, plasmapheresis, IVIG

28

What are lab findings in GBS?

↑ CSF protein w/ mml cell count = albuminocytologic dissociation
↑ protein → papilledema

29

What leads to PML?

JC virus → destruction of oligodendrocytes → CNS demyelination

30

What is Acute disseminated (post infectious) encephalomyelitis? What are the causes?

Multifocual perivenular inflammation and demyleination after infection (commonly measles or HSV) or certain vaccinations (eg. rabies, smallpox)