title: A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation.
abstract: The authors report a patient carrying a missense mutation in exon 10 of tau that causes a substitution at codon 301 (P301S). Although the patient shares the rapidly progressive frontotemporal dementia of the other reported pedigrees with P301S, the clinical phenotype is unique in that parkinsonism was a major symptom in the early stage and because behavioral symptoms with dementia became prominent 2 years after the onset of the disease. This study substantiates the notion that tau mutations at codon 301 can show various phenotypes.
authors.affiliation: Institute for Aging Brain and Cognitive Disorders, Himeji, Japan. yasuda@hiabcd.go.jp
authors.forename: M
authors.initials: M
authors.lastname: Yasuda
authors.forename: K
authors.initials: K
authors.lastname: Yokoyama
authors.forename: T
authors.initials: T
authors.lastname: Nakayasu
authors.forename: Y
authors.initials: Y
authors.lastname: Nishimura
authors.forename: M
authors.initials: M
authors.lastname: Matsui
authors.forename: T
authors.initials: T
authors.lastname: Yokoyama
authors.forename: K
authors.initials: K
authors.lastname: Miyoshi
authors.forename: C
authors.initials: C
authors.lastname: Tanaka
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D003704:Dementia / Q000235:genetics* / Q000473:pathology / Q000523:psychology*; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D016875:tau Proteins / Q000235:genetics*
chemical_list: D016875:tau Proteins