Tau mutations in frontotemporal dementia

被引：25

作者：

Wilhelmsen, KC

Clark, LN

Miller, BL

Geschwind, DH

机构：

[1] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94110 USA

[2] Ernest Gallo Clin & Res Ctr, San Francisco, CA 94110 USA

[3] Univ Calif Los Angeles, Sch Med, Reed Neurol Res Ctr, Dept Neurol,Program Neurogenet, Los Angeles, CA 90024 USA

来源：

DEMENTIA AND GERIATRIC COGNITIVE DISORDERS | 1999年 / 10卷

关键词：

FTDP-17; Alzheimer's disease; chromosome; 17; progressive supranuclear palsy; tau;

D O I：

10.1159/000051221

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

Genetic analysis has determined that a series of disorders related clinically and pathologically to frontotemporal dementia (FTD) are etiologically related. The relationship between these disorders was initially established based on linkage analysis and has been solidified by the identification of mutations in the tau gene in many families. Mutations affecting the expression or structure of the microtubule binding domain of the tau gene have been found in many large families with chromosome 17q21-22-linked disease, These mutations only account for a small fraction of cases of FTD that are either sporadic or that contain only a few affected relatives.

引用

页码：88 / 92

页数：5

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