title: Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families.
abstract: 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.
authors: Department of Geriatric Medicine, Osaka University Medical School, Japan.
authors: K
authors: K
authors: Kamino
authors: S
authors: S
authors: Sato
authors: Y
authors: Y
authors: Sakaki
authors: A
authors: A
authors: Yoshiiwa
authors: Y
authors: Y
authors: Nishiwaki
authors: M
authors: M
authors: Takeda
authors: H
authors: H
authors: Tanabe
authors: T
authors: T
authors: Nishimura
authors: K
authors: K
authors: Ii
authors: P H
authors: PH
authors: St George-Hyslop
authors: T
authors: T
authors: Miki
authors: T
authors: T
authors: Ogihara
mesh_terms: D017668:Age of Onset; D000544:Alzheimer Disease / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D053764:Presenilin-1
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1