483-485 (except seizures)

Question 1

What chromosome is APP found on?

Answer 1

21

Question 2

What chromosome is presenilin-1 found on?

Answer 2

14

Question 3

What chromosome is presenilin-2 found on?

Answer 3

1

Question 4

What chromosome is ApoE4 found on?

Answer 4

19

Question 5

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

Answer 5

Late

Question 6

What is the neurotransmitter imbalance in Alzheimer’s?

Answer 6

↓ Ach

Question 7

What are two histological findings associated with Alzheimer’s

Answer 7

1. senile plaques

2. neurofibrillary tangles

Question 8

What are senile plaques? What might they cause?

Answer 8

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

Question 9

What are NFTs?

Answer 9

intracellular accumulation of hyperphosphorylated tau protein (insoluble cytoskeletal elements)

tangles correlate with degree of dementia

Question 10

What are 4 key signs of Pick disease?

Answer 10

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

Question 11

What areas of the brain are spared in Pick disease?

Answer 11

parietal lobe and posterior 2/3 of superior temporal gyrus

Question 12

What histological/gross findings are characteristic of Pick disease?

Answer 12

spherical tau protein aggregates; frontotemporal atrophy

Question 13

What is the clinical course of Lewy body dementia?

Answer 13

Initial dementia and visual hallucinations followed by parkinsonian features?

Question 14

What is defected in Lewy body dementia?

Answer 14

α-synuclein

Question 15

How does CJD present?

Answer 15

Rapidly progressive (wks-months) dementia with myocolonus

Question 16

What are the gross and histologic findings of CJD?

Answer 16

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

Question 17

What are 6 “other” causes of dementia?

Answer 17

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

Question 18

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

Answer 18

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.

Question 19

Classic “triad” of MS

Answer 19

SIN
Scanning speech
Intention tremor/ Incontinence / Internuclear opthalmoplegia
Nystagmus

Question 20

Diagnostic finding for MS in CSF?

Answer 20

↑ protein (IgG) → oligoclonal bands

Question 21

Treatments for MS?

Answer 21

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

Question 22

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

Answer 22

Acute inflammatory demyelinating polyradiculopathy

Question 23

What is Guillain-Barré syndrome?

Answer 23

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

Question 24

What are two infections associated with Guillain-Barre?

Answer 24

C. jejuni, CMV

Question 25

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

Answer 25

50%

Question 26

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

Answer 26

cardiac irregularities, hypertension, hypotension

Question 27

Treatment for GBS?

Answer 27

Respiratory support, plasmapheresis, IVIG

Question 28

What are lab findings in GBS?

Answer 28

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

Question 29

What leads to PML?

Answer 29

JC virus → destruction of oligodendrocytes → CNS demyelination

Question 30

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

Answer 30

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

Question 31

What is metachromatic leukodystrophy?

Answer 31

AR lysosomal storage dz, commonly due to arylsulfatase A deficiency → buildup of sulfa tides → impaired production of myelin sheath → central and peripheral demyelination with ataxia, dementia

Question 32

Charcot-Marie-Tooth disease.. another name?

Answer 32

hereditary motor and sensory neuropathy (MHSN)

Question 33

HMSN pathogenesis

Answer 33

hereditary n. d/o (usually AD)→ defective production of proteins involved in structure/function of peripheral nn. or the myelin sheath → scoliosis and foot deformities (high or flat arches)

Question 34

Krabbe dz pathogenesis

Answer 34

AR lysosomal storage disease due to deficiency of glactocerebrosidase → buildup of galactocerebroside and psychosis → destruction of myelin sheath

Question 35

Krabbe dz symptoms

Answer 35

1. peripheral neuropathy 2. developmental delay, 3. optic atrophy 4. globoid cells

Question 36

Adrenoleukodystrophy

Answer 36

X-lined genetic d/o (♂>♀ ) → disruption of very long chain FA metal → buildup in NS, adrenal gland, testes → progressive dz → long-term coma/death, adrenal gland crisis

Question 37

What can be used to treat tension headaches?

Answer 37

Analgesics NSAIDS Acetaminophen; Amitriptyline for chronic pain

Question 38

What does STURGE stand for?

Answer 38

Sporatdic, port-wine Stain; Tram track Ca2+ (opposing gyro); Unlateral; Retardation; Glaucoma, GNAQ gene; Epilepsy

Question 39

What does HAMARTOMAS stand for?

Answer 39

Hamartomas in CNS and skin; Angiofibromas; Mitral regurgitation; Ash-leaf spots; cardiac Rhabdomyoma; (Tuberus sclerosis); autosomoal dOminant; Mental retardation; renal Angiomyolipoma; Seizures, Shagreeen patches.