Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families.
Presenilin-1 (PS-1) gene of three Japanese pedigrees with early-onset familial Alzheimer's disease (FAD) disclosed two novel missense mutations resulting in Val96Phe and Ile213Thr, and one mutation resulting in His163Arg. The mean age at onset in a family with His163Arg mutation was similar to those reported in other families with His163Arg. Our results suggested the existence of a variety of PS-1 mutations, and that early-onset FAD with PS-1 mutations is highly penetrant and is only rarely subject to modulation by genetic or environmental modifying factors.
Kamino
K
K
Department of Geriatric Medicine, Osaka University Medical School, Japan.
Sato
S
S
Sakaki
Y
Y
Yoshiiwa
A
A
Nishiwaki
Y
Y
Takeda
M
M
Tanabe
H
H
Nishimura
T
T
Ii
K
K
St George-Hyslop
P H
PH
Miki
T
T
Ogihara
T
T
D017668:Age of Onset; D000544:Alzheimer Disease / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D053764:Presenilin-1
D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1