A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation.

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Citation

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.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Microtubule-associated protein tauP10636Details