title: A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI.
abstract: Some patients with familial Alzheimer's disease (FAD) have mutations in the presenilin-1 (PS-1) gene on chromosome 14. We report a Japanese family with AD and an Ala285Val substitution in exon 8 of the PS-1 gene. FAD in this family was characterized by relatively late onset (mean age, 50 years) and absence of myoclonus, seizures, or paratonia. Levels of tau were markedly elevated in CSF whereas CSF levels of amyloid beta protein were normal. MRI of the cranium showed marked linear signal abnormalities within white matter in the parieto-occipital lobes, consistent with cortical amyloid angiopathy of the type encountered in patients with the PS-1 gene mutation.
authors.affiliation: Department of Neurology, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Aoki
authors.forename: K
authors.initials: K
authors.lastname: Abe
authors.forename: N
authors.initials: N
authors.lastname: Oda
authors.forename: M
authors.initials: M
authors.lastname: Ikeda
authors.forename: T
authors.initials: T
authors.lastname: Tsuda
authors.forename: M
authors.initials: M
authors.lastname: Kanai
authors.forename: M
authors.initials: M
authors.lastname: Shoji
authors.forename: P H
authors.initials: PH
authors.lastname: St George-Hyslop
authors.forename: Y
authors.initials: Y
authors.lastname: Itoyama
mesh_terms: D000544:Alzheimer Disease / Q000175:diagnosis* / Q000235:genetics*; D001921:Brain / Q000473:pathology*; D004247:DNA / Q000235:genetics; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D053764:Presenilin-1
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D004247:DNA