A family with a tau P301L mutation presenting with parkinsonism
| Autor: | John Hardy, Jill Wiener, Matt Baker, Matthew J. Farrer, Rebecca Gibbs, Ruth H. Walker, Mike Hutton, Amanda Adam, Ronald Hobler, Joseph H. Friedman, Katrina Gwinn-Hardy, Jennifer DeWolfe |
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| Rok vydání: | 2002 |
| Předmět: |
Male
Genetics Parkinsonism Haplotype tau Proteins Middle Aged Biology medicine.disease Pedigree Progressive supranuclear palsy Diagnosis Differential Haplotypes Parkinsonian Disorders Neurology Mutation Mutation (genetic algorithm) medicine Humans Dementia Female Neurology (clinical) Geriatrics and Gerontology Clinical phenotype |
| Zdroj: | Parkinsonism & Related Disorders. 9:121-123 |
| ISSN: | 1353-8020 |
| DOI: | 10.1016/s1353-8020(02)00003-2 |
| Popis: | We report a sib-pair with a tau P301L mutation. Unlike most previous cases with this mutation, parkinsonism, rather than dementing features were the predominant and presenting feature. We have also observed that the P301L mutation has occurred on the H1 tau haplotype background. The haplotype background may influence the disease phenotype since in many previous Caucasian families with the P301L mutation, the haplotype background has been H2. |
| Databáze: | OpenAIRE |
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