The effect of tau genotype on clinical features in FTDP-17.

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.

authors

Baba Y,Tsuboi Y,Baker MC,Uitti RJ,Hutton ML,Dickson DW,Farrer M,Putzke JD,Woodruff BK,Ghetti B,Murrell JR,Boeve BF,Petersen RC,Verpillat P,Brice A,Delisle MB,Rascol O,Arima K,Dysken MW,Yasuda M,Kobayashi T,Sunoh

doi

10.1016/j.parkreldis.2005.01.003

subject

Has Abstract

pub_date

2005-06-01 00:00:00

pages

205-8

issue

4

eissn

1353-8020

issn

1873-5126

pii

S1353-8020(05)00020-9

journal_volume

11

pub_type

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