A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation
| Autor: | T. Nakayasu, M. Yasuda, M. Matsui, T. Yokoyama, K. Yokoyama, K. Miyoshi, C. Tanaka, Y. Nishimura |
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| Rok vydání: | 2000 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Tau protein Nonsense mutation tau Proteins Bioinformatics Central nervous system disease Degenerative disease Japan mental disorders medicine Dementia Missense mutation Humans biology Parkinsonism Brain medicine.disease Magnetic Resonance Imaging Mutation biology.protein Neurology (clinical) Psychology Frontotemporal dementia |
| Zdroj: | Neurology. 55(8) |
| ISSN: | 0028-3878 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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