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神经退行性疾病的分子遗传学进展

Molecular genetic advances in neurodegenerative disorders.

作者信息

Aguilera A J

机构信息

Department of Pathology, Medical College of Virginia, Richmond 23298-0662, USA.

出版信息

Clin Lab Med. 1995 Dec;15(4):915-26.

PMID:8838230
Abstract

Advances in molecular genetics have had a major impact on our understanding of the pathogenesis of neurologic disorders. This article discusses molecular genetic contributions to our knowledge of Huntington's disease, amyotrophic lateral sclerosis, and Alzheimer's disease, as well as their implications for diagnosis and treatment. Specific, sensitive testing for Huntington's disease is now possible; elucidation of the pathogenesis of familial amyotrophic lateral sclerosis has been achieved and has launched promising drug trials; and the heterogeneity and pathogenetic complexity of Alzheimer's disease have been revealed.

摘要

分子遗传学的进展对我们理解神经系统疾病的发病机制产生了重大影响。本文讨论了分子遗传学对我们在亨廷顿舞蹈病、肌萎缩侧索硬化症和阿尔茨海默病方面知识的贡献,以及它们对诊断和治疗的意义。现在已经能够对亨廷顿舞蹈病进行特异性、敏感性检测;家族性肌萎缩侧索硬化症的发病机制已得到阐明,并开展了有前景的药物试验;阿尔茨海默病的异质性和发病机制复杂性也已被揭示。

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