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[阿尔茨海默病的遗传学]

[The genetics of Alzheimer's disease].

作者信息

Alonso-Vilatela M E, Yescas-Gómez P

机构信息

Departamento de Neurogenética, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, México, D.F.

出版信息

Rev Invest Clin. 1998 Mar-Apr;50(2):155-62.

PMID:9658938
Abstract

Alzheimer's disease is a degenerative disorder of the central nervous system which causes progressive memory and cognitive decline during mid to late adult life and is accompanied by a wide range of neuropathologic features including extracellular amyloid plaques and intra-neuronal neurofibrillary tangles. Four genetic loci for Alzheimer's disease have been identified. They are the amyloid precursor protein gene on chromosome 21, a gene for early onset autosomal dominant form on chromosome 14, another gene on chromosome 1, and the risk-modifying gene apolipoprotein E on Chromosome 19. The etiology is heterogeneous and complex, and additional Alzheimer's disease genes remain to be found. The genes identified in the inherited forms are now being used to understand the pathogenesis of the disease.

摘要

阿尔茨海默病是一种中枢神经系统退行性疾病,在成年中后期会导致渐进性记忆和认知衰退,并伴有多种神经病理学特征,包括细胞外淀粉样斑块和神经元内神经原纤维缠结。已确定了四个与阿尔茨海默病相关的基因位点。它们分别是21号染色体上的淀粉样前体蛋白基因、14号染色体上早发性常染色体显性形式的一个基因、1号染色体上的另一个基因以及19号染色体上的风险修饰基因载脂蛋白E。其病因是异质性和复杂的,仍有待发现更多的阿尔茨海默病相关基因。目前,在遗传性形式中鉴定出的基因正被用于了解该疾病的发病机制。

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