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发病于第四十年的神经病理学确诊的家族性阿尔茨海默病队列的临床特征:与晚发型阿尔茨海默病的比较及病因学意义

Clinical features of a neuropathologically verified familial Alzheimer's cohort with onset in the fourth decade: comparison with senile onset Alzheimer's disease and etiopathogenic implications.

作者信息

Reisberg B, Ferris S H, Franssen E, Jenkins E C, Wisniewski K E

机构信息

Aging and Dementia Research Center, New York University Medical Center, New York 10016.

出版信息

Prog Clin Biol Res. 1989;317:43-54.

PMID:2690108
Abstract

Clinical and pathologic features of a family with early onset, autosomal dominant, familial Alzheimer's disease (AD) are compared and contrasted with senile onset dementia of the Alzheimer type. Late onset AD has previously been observed to have a characteristic progression and clinical course. A previously unreported pedigree, with two siblings and their father affected, of early clinical onset is presented. Molecular genetic study of this family using in situ chromosome hybridization showed an apparent marker on chromosome 9. This early onset form of AD is observed to be clinically consistent with the common late onset form of AD, but follows a more rapid course. An etiopathogenic model explaining the early onset, and other forms of AD is presented.

摘要

将早发性常染色体显性家族性阿尔茨海默病(AD)患者家族的临床和病理特征与阿尔茨海默型老年痴呆症进行了比较和对比。此前已观察到晚发性AD具有特征性的进展和临床病程。本文展示了一个此前未报道的家系,有两个患病的兄弟姐妹及其患病父亲,临床发病较早。利用原位染色体杂交技术对该家族进行分子遗传学研究,结果显示9号染色体上有一个明显的标记。观察发现,这种早发性AD在临床上与常见的晚发性AD形式一致,但病程进展更快。本文提出了一个解释早发性AD以及其他形式AD的病因病理模型。

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