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阿尔茨海默病与唐氏综合征。

Alzheimer's disease and Down syndrome.

作者信息

Schweber M S

机构信息

Department of Biochemistry, Boston University Medical School, MA.

出版信息

Prog Clin Biol Res. 1989;317:247-67.

PMID:2532369
Abstract

This report contains a summary of an extensive survey of autopsy data for mentally retarded persons. Among adults with DS, the brain neuropathology of AD was universal in those age 37 and over; claimed exceptions were indefensible. The behavioral evaluations of the DS adults, however, could be classified into three divisions: 1. "quiescent" (neither seizures nor dementia, 2). "partial" (seizures but no dementia), and 3). "active" (dementia +/- seizures). Thus, it is reasonable to argue that all persons with DS develop AD itself upon aging. However, DS cannot be used uncritically as an AD model since no increased incidence of active AD was found in DS with aging beyond the critical threshold age (mid-30's). Improved accurate quantification of Southern blots produced 100% accuracy in decoding blind samples of DS and non-DS samples. Using this system, DNA levels similar to those of DS have been demonstrated for all categories of AD at a small subsection of chromosome 21 near to, or within the DS DNA location on chromosome 21. Increased amounts of a complete, structural gene sequence were not found (or expected). The results provide evidence for a unitary hypothesis for DS and all forms of AD.

摘要

本报告包含对智障人士尸检数据广泛调查的总结。在成年唐氏综合征患者中,37岁及以上人群中阿尔茨海默病(AD)的脑神经病理学表现普遍存在;所谓的例外情况是站不住脚的。然而,唐氏综合征成年患者的行为评估可分为三类:1. “静止型”(既无癫痫发作也无痴呆),2. “部分型”(有癫痫发作但无痴呆),以及3. “活跃型”(痴呆伴或不伴癫痫发作)。因此,有理由认为所有唐氏综合征患者随着年龄增长都会患上阿尔茨海默病本身。然而,唐氏综合征不能不加批判地用作阿尔茨海默病模型,因为在超过临界阈值年龄(30多岁中期)的唐氏综合征患者中,未发现活跃型阿尔茨海默病的发病率增加。改进后的Southern印迹法准确定量在解码唐氏综合征和非唐氏综合征样本的盲样时准确率达到了100%。使用该系统,已证明在21号染色体上靠近或位于唐氏综合征DNA位置的一小段区域内,所有类型的阿尔茨海默病的DNA水平与唐氏综合征患者相似。未发现(或预期)完整结构基因序列的量增加。这些结果为唐氏综合征和所有形式阿尔茨海默病的单一假说提供了证据。

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