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额颞叶痴呆遗传学

Frontotemporal dementia genetics.

作者信息

Wilhelmsen K C

机构信息

Gallo Clinic & Research Center, University of California, San Francisco 94110, USA.

出版信息

J Geriatr Psychiatry Neurol. 1998 Summer;11(2):55-60. doi: 10.1177/089198879801100203.

Abstract

Frontotemporal dementia (FTD) is the most common syndrome in which the focus of neurodegeneration is the frontal lobes. FTD is frequently familial. It is also often due to a susceptibility locus on chromosome 17q21-22. Some 17q21-22-linked families have mutations in the tau gene and most have microscopically visible aggregates of hyperphosphorylated tau. Demonstrating that mutations in tau can produce neurodegeneration will necessitate a reassessment of the role of tau in the pathogenesis of the many diseases in which tau biology is disrupted.

摘要

额颞叶痴呆(FTD)是神经变性聚焦于额叶的最常见综合征。FTD常具有家族性。它也常归因于17号染色体q21 - 22区域的一个易感位点。一些与17q21 - 22相关的家族在tau基因中有突变,并且大多数在显微镜下可见高度磷酸化tau的聚集体。证明tau基因突变可导致神经变性将有必要重新评估tau在许多tau生物学受到破坏的疾病发病机制中的作用。

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