Dementia genetics Flashcards
1
Q
Familial Alzheimer’s (i.e. early onset)
genes and inheritance pattern
A
PSEN1
PSEN2
APP
APOE
autisomal dominant
1-6% of all Alzheimer’s
2
Q
Alzheimer’s
A
APOE4
(APOE2 = protective)
3
Q
familial frontotemporal dementia
A
C9orf72
PGRN (progranulin)
MAPT (tau)
autosomal dominant
4
Q
Huntington’s
A
HTT (huntingtin)
5
Q
CADASIL
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
A
Notch3
autosomal dominant
characterised by migraines and multiple strokes, eventually progressing to dementia
6
Q
dementia w/ Lewy Bodies
A
APOE (increased risk but not direct cause)
GBA (increased risk but not direct cause)
SNCA - autosomal dominant
