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