| Literature DB >> 15878580 |
Yasuhiko Baba1, Yoshio Tsuboi, Matthew C Baker, Ryan J Uitti, Michael L Hutton, Dennis W Dickson, Matthew Farrer, John D Putzke, Bryan K Woodruff, Bernardino Ghetti, Jill R Murrell, Bradley F Boeve, Ronald C Petersen, Patrice Verpillat, Alexis Brice, Marie-Bernadette Delisle, Oliver Rascol, Kunimasa Arima, Maurice W Dysken, Minoru Yasuda, Tomonori Kobayashi, Nobuhiko Sunohara, Osamu Komure, Sadako Kuno, Anne D Sperfeld, Gabriela Stoppe, Jürgen Kohlhase, Stuart Pickering-Brown, David Neary, Orso Bugiani, Zbigniew K Wszolek.
Abstract
The clinical phenotype of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) varies. This variability is seen not only between kindreds with different mutations but also in families sharing the same mutation. Inheritance of tau haplotype (H1) and genotype (H1/H1) has been established as a risk factor for some neurodegenerative disorders with parkinsonism. We assessed the effect of tau polymorphism on the clinical features of FTDP-17 in 61 cases from 30 separately ascertained families with four different tau mutations, including P301L, +16, N279K, and P301S. There were no significant differences of age at symptomatic onset and disease duration between H1/H1 and H1/H2 genotypes. The comparison between tau genotype and type of initial clinical sign showed an association between the H1/H1 genotype and parkinsonian phenotype and between the H1/H2 genotype and frontotemporal dementia phenotype (OR=11.7; 95% confidence interval, 1.4-98.7; P=0.008). Our results suggest that tau genotype does not influence the disease course. However, it may predispose to a specific clinical sign in the early stage of FTDP-17.Entities:
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Year: 2005 PMID： 15878580 DOI： 10.1016/j.parkreldis.2005.01.003
Source DB: PubMed Journal: Parkinsonism Relat Disord ISSN： 1353-8020 Impact factor: 4.891