A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation.
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.
Yasuda
M
M
Institute for Aging Brain and Cognitive Disorders, Himeji, Japan. yasuda@hiabcd.go.jp
Yokoyama
K
K
Nakayasu
T
T
Nishimura
Y
Y
Matsui
M
M
Yokoyama
T
T
Miyoshi
K
K
Tanaka
C
C
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*
D016875:tau Proteins