| Literature DB >> 12473404 |
Ruth H Walker1, Joseph Friedman, Jill Wiener, Ronald Hobler, Katrina Gwinn-Hardy, Amanda Adam, Jennifer DeWolfe, Rebecca Gibbs, Matt Baker, Matt Farrer, Mike Hutton, John Hardy.
Abstract
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.Entities:
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Year: 2002 PMID： 12473404 DOI： 10.1016/s1353-8020(02)00003-2
Source DB: PubMed Journal: Parkinsonism Relat Disord ISSN： 1353-8020 Impact factor: 4.891