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亨廷顿病:临床表现与治疗。

Huntington's disease: clinical presentation and treatment.

机构信息

The National Hospital for Neurology and Neurosurgery, London, UK.

出版信息

Int Rev Neurobiol. 2011;98:297-323. doi: 10.1016/B978-0-12-381328-2.00013-4.

Abstract

Huntington's disease (HD) is a devastating inherited neurodegenerative disease characterized primarily by progressive motor, cognitive, and psychiatric symptoms. It is caused by autosomal dominant inheritance of an expanded CAG repeat within the Huntington's gene on chromosome 4. In this chapter, we characterize the typical and variant motor phenotypes of the disease and then proceed to describe the cognitive and psychiatric profile. We then give an overview of a suggested multidisciplinary approach to the management of HD, emphasizing the fact that it is a disease which impacts on entire families rather than affecting individuals in isolation. We then describe the pharmacological and nonpharmacological options available for management of specific symptoms.

摘要

亨廷顿病(HD)是一种破坏性的遗传性神经退行性疾病,主要表现为进行性运动、认知和精神症状。它是由亨廷顿基因中 4 号染色体上的 CAG 重复扩增的常染色体显性遗传引起的。在这一章中,我们描述了该疾病的典型和变异运动表型,然后描述了认知和精神疾病概况。接着,我们概述了对 HD 的多学科管理方法,强调了这是一种影响整个家庭而不是孤立个体的疾病。然后,我们描述了管理特定症状的药物和非药物治疗选择。

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