阿尔茨海默型痴呆：22对双胞胎的临床与家族研究

Dementia of the Alzheimer type: clinical and family study of 22 twin pairs.

作者信息

Nee L E, Eldridge R, Sunderland T, Thomas C B, Katz D, Thompson K E, Weingartner H, Weiss H, Julian C, Cohen R

出版信息

Neurology. 1987 Mar;37(3):359-63. doi: 10.1212/wnl.37.3.359.

DOI:10.1212/wnl.37.3.359

Abstract

We studied 22 twin pairs in which one or both twins had dementia of the Alzheimer type (DAT). In four twins, diagnosis was confirmed by autopsy. Seven monozygotic (MZ) pairs were concordant for DAT; 10 MZ pairs were discordant. Two dizygotic (DZ) pairs were concordant for DAT, and 3 DZ pairs were discordant. The current concordance rate was 41% for MZ twins and 40% for DZ twins. The study supports the belief that, etiologically, DAT cannot be entirely accounted for by a single autosomal dominant gene. The data also suggest that in certain genetic circumstances, disease expression may be delayed in females.

摘要

我们研究了22对双胞胎，其中一对或双方患有阿尔茨海默型痴呆（DAT）。在4对双胞胎中，尸检确诊了诊断。7对同卵双胞胎（MZ）的DAT一致；10对MZ双胞胎不一致。2对异卵双胞胎（DZ）的DAT一致，3对DZ双胞胎不一致。目前MZ双胞胎的一致率为41%，DZ双胞胎为40%。该研究支持了这样一种观点，即从病因学上讲，DAT不能完全由单个常染色体显性基因来解释。数据还表明，在某些遗传情况下，女性的疾病表现可能会延迟。