A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation
- 24 October 2000
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 55 (8) , 1224-1227
- https://doi.org/10.1212/wnl.55.8.1224
Abstract
Article 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.Keywords
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