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阿尔茨海默病的遗传学

The genetics of Alzheimer disease.

作者信息

Steele C D

机构信息

Department of Psychiatry and Behavioral Sciences, School of Medicine, and Faculty Associate, School of Nursing, The Johns Hopkins University, Baltimore, Maryland 21287, USA.

出版信息

Nurs Clin North Am. 2000 Sep;35(3):687-94.

Abstract

Alzheimer disease (AD) is the most common cause of dementia in late life. AD has been described as early onset, occurring at or younger than age 50, or late onset, occurring at or older than age 70. Although AD is a genetically heterogeneous disorder, it is classified as familial or sporadic. Cases in which a clear pattern of inheritance within a family is established are termed familial Alzheimer disease (FAD). Sporadic, however, is problematic when studying a late onset disease such as AD. It is likely that people who may carry a mutation die of another cause before reaching the age of risk. This article describes the known genetic mutations resulting in an autosomal dominant pattern of inheritance in early onset AD and a polymorphism associated with the more common late onset disorder.

摘要

阿尔茨海默病(AD)是晚年痴呆最常见的病因。AD被描述为早发型,发病年龄在50岁及以下,或晚发型,发病年龄在70岁及以上。尽管AD是一种基因异质性疾病,但它被分类为家族性或散发性。在一个家族中确立了明确遗传模式的病例被称为家族性阿尔茨海默病(FAD)。然而,在研究像AD这样的晚发型疾病时,散发性病例存在问题。携带突变的人很可能在达到发病风险年龄之前死于其他原因。本文描述了导致早发型AD常染色体显性遗传模式的已知基因突变,以及与更常见的晚发型疾病相关的一种多态性。

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