NEURO

Question 1

superoxide dismutase 1 defect

Answer 1

ALS

Question 2

acid sphingomyelinase deficiency

Answer 2

Niemann pick type A

*hepatosplenomegaly

Question 3

jews
GM2 gangliosides
B-hexosaminidase A (Hex A) def
Cherry red macula

Answer 3

Tay Sachs

**NO SPLEEN PROBS

Question 4

alpha galactosidase A def

Answer 4

Fabry disease
X linked

Question 5

Lysosomal B-glucocerebrosidase def

Answer 5

Gaucher 1

*hepatosplenomegaly

Question 6

“difficulty standing from seated position”
-dry mouth, weakness
Chest xray: nodule in RML

antibodies against presynaptic VG calcium channels

Answer 6

Lambert Eaton myasthentic syndrome

**weakness starts from legs –> up
*lung cancer

Question 7

ab at NMJ blocking postsynaptic nicotinic acetylcholine receptors, inhibiting acetylcholine

*extraocular weakness, ptosis

**weaknes starts from face —> body
*thymoma/thymic hyperplasia

Answer 7

Myasthenia Gravis

Question 8

anti-TPO ab
anti-thyroglobulin ab
*destroy the follicles in thyroid gland
myxedema coma

Answer 8

Hashimotos (hypothyroidism)

Question 9

Pre-1, Pre-2, APP (21) genes give you increase chance of early onset …

Answer 9

alzheimers (NFT, Tau, Amyloid)

Question 10

Late onset alzheimer gene

Answer 10

APOE 4

Question 11

protective alzheimer’s gene

Answer 11

APOE 2

Question 12

parkinsons sxs w/ FLUCTUATING/ HALLUCINATIONS

Answer 12

Lewy body dz

Question 13

a-synuclein

Answer 13

Lewy body dz

Question 14

personality changes, “out of character”

Answer 14

FTD (picks)

Question 15

RAPID dementia,
jerky myoclonus,
corneal transplant
PRIONS

Answer 15

Creutz jacob