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Neuro Boards > All things Genetic > Flashcards

All things Genetic Flashcards

1
Q

SOD1

A

familial ALS

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2
Q

c9orf72

A

ALS with FTD

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3
Q

SMN1

A

SMA

variant is dependent on #of copies of SMN2

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4
Q

PNP22 duplication

A

CMT1A

AD inheritance

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5
Q

PNP22 deletion

A

HNPP

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6
Q

Huntington’s Disease

A

CAG repeat on chr. 4p
HTT gene for huntingtin protein
AD with anticipation

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7
Q

ATP7B

A

Wilson’s Disease

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8
Q

EPM2A

NHLRC1

A

Lafora Disease

AR

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9
Q

CSTB (cystatin B gene) dodecamer repeat expansion

A

Unverricht Lundborg or Progressive MyoClonic Epielspy Type 1

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Neuro Boards (12 decks)

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