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Genetics > 12 - Neurogenetic disorders in adults > Flashcards

12 - Neurogenetic disorders in adults Flashcards

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Biology 101 flashcards
1
Q

3 genes that cause monogenic, high penetrance alzheimer’s

A

betaAPP, PSEN1, PSEN2

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2
Q

alleles that predict disposition to alzheimer’s, and which ones are good/bad

A

APOE alleles

e2 and e3 good, e4 bad

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3
Q

genes responsible for AD and AR Parkinson’s

A

AD - PARK1 (alpha synuclein)

AR - PARK2** (parkin), PINK1, DJ1

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4
Q

AD ataxia in adults

A

spinocerebellar ataxia

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5
Q

spinocerebellar ataxia - presentation, inheritance type

A

gait ataxia and slowly progressive

AD

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6
Q

Friedrich ataxia gene

A

FRDA - triplet repeat dz

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7
Q

you should be thinking mitochondrial for an ataxic disorder if what 2 assoc sx are present?

A

deafness or DM

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8
Q

MC heritable disorder of PNS

A

charcot marie tooth

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Genetics (14 decks)

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