mutations Flashcards

1
Q

FHM1

Fhm 2

Fhm3

A

Cacna 1A

Atp1a2( na k atpase)

Scn1a

Voltage gated channels

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2
Q

Familial / young onset Parkinson’s

Park 8 LRRK2 MC

Park 1–4 Alfa synnuclein Lewybody rare familial
Park 2 Parkin. AR PD
Park 6 PINK1. AR PD

A

GBA mut of gaucher is a risk factor for young onset PD

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