The effect of tau genotype on clinical features in FTDP-17
The effect of tau genotype on clinical features in FTDP-17
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DOI：
10.1016/j.parkreldis.2005.01.003
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发表时间：
2005-06-01
影响因子：
4.1
通讯作者：
Wszolek, ZK
中科院分区：
文献类型：
--
作者：
Baba, Y;Tsuboi, Y;Wszolek, ZK
与17号染色体相关的帕金森病额颞叶痴呆（FTFDP-17）的临床表型各不相同。这种变异不仅存在于具有不同突变的族类之间，也存在于具有相同突变的家族中。tau单倍型（HI）和基因型（H1/H1）的遗传已被确定为一些神经退行性疾病伴帕金森病的危险因素。我们评估了tau多态性对FTDP-17临床特征的影响，这些患者来自30个独立确定的具有4种不同tau突变的家族，包括P301L、+ 16、N279K和P301S。HUM和H1/H2基因型在症状发作年龄和病程上无显著差异。tau基因型与初始临床体征类型的比较显示，HUM基因型与帕金森表型、H1/H2基因型与额颞叶痴呆表型之间存在相关性（OR = 11.7； 95%可信区间为1.4 ~ 98.7;P = 0.008）。我们的结果表明，tau基因型不影响病程。然而，在FTDP-17的早期阶段，它可能倾向于一个特定的临床症状。(c) 2005 Elsevier Ltd版权所有。
The clinical phenotype of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTFDP-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 (HI) 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 HUM and H1/H2 genotypes. The comparison between tau genotype and type of initial clinical sign showed an association between the HUM 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. (c) 2005 Elsevier Ltd. All rights reserved.