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Flashcards in Neuro/Psych 1 Deck (17):
1

Deficient enzyme in Tay Sachs

Hexosaminidase A

2

Accumulated enzyme in Tay Sachs

GM2 ganglioside

3

Tay Sachs presentation

- Cherry-red spot in macula
- Progressive neurodegeneration (hypotonia, wkness, abnormal startle reflex)
- Histo: onion skin lamellar lipid rings on EM

AR

4

How is Tay Sachs different from Neimann-Pick Disease

TS: no hepatosplenomagaly

Similar eye and neuro findings

5

Ataxia-telangiectasia

- Defect in ATM gene => can't repair DNA ds breaks
- Therefore hypersensitive to ionizing radiation

- Repeated sinopulmonary infections
- cerebellar ataxia
- Oculocutaneous telangiectasias
- increased incidence of malignancy

6

Function of glycine and GABA in neurons

They're inhibitory!

They regulate LMNs

7

What's the MOA of tetanus toxin?

- Retrograde axonal transport from motor neuro to CNS
- Prevents release of glycine/GABA

Causes: ^ed muscle activation => spasms hyperreflexia

8

What are signs of lithium toxicity?

ACUTE:
- GI: N/V/D
- Late neuro sequela

CHRONIC
- Confusion
- Agitation
- Ataxia
- Tremors/fasciculations

9

What are the causes of lithium toxicity?

- Overdose
- Volume depletion (decreased GFR)
- Drug interactions

10

Toxicity DDIs = Lithium + ______

- Thiazide diuretics
- NSAIDs (not aspirin)
- ACEIs

11

Inheritance & gene of Fragile X syndrome

X-linked

FMR1

12

Clinical presentation of Fragile X

- Long, narrow face
- Prominent chin & forehead
- Large testes
- Large everted ears
- Hyperlaxity w/ joints
- Developmental delay (speech and motor)

13

What are the top 2 most common causes of genetic intellectual disability?

1) Down syndrome
2) Fragile X syndrome

14

What is measured to determine neural tube defects?

- alpha-fetoprotein (AFP) --- maternal serum & amniotic fluid
- acetylcholinesterase --- only amniotic fluid

Both increased due to leakage of fetal CSF

15

CSF of viral meningitis

- Normal glucose
- Increased protein
- Increased (~90%) lymphocytes

16

CSF of bacterial meningitis

- Low glucose
- Increased protein
- Increased (~80%) neutrophils

17

Which cells are most susceptible to ischemia post-MI?

- Pyramidal cells of hippocampus & neocortex
- Purkinje cells of cerebellum

Hippocampus is first area damaged during global cerebral ischemia