A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation.
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Yasuda M, Yokoyama K, Nakayasu T, Nishimura Y, Matsui M, Yokoyama T, Miyoshi K, Tanaka C
A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation.
Neurology. 2000 Oct 24;55(8):1224-7.
- PubMed ID
- 11071507 [ View in PubMed]
- 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.