Huntington Disease and Chorea.

Q1 Medicine

CONTINUUM Lifelong Learning in Neurology Pub Date : 2025-08-01 DOI:10.1212/cont.0000000000001597

Kathryn P L Moore

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引用次数: 0

Abstract

Objective: This article presents a systematic approach to the diagnosis and management of choreiform disorders, focusing on Huntington disease (HD) as a model.

Latest developments: The availability of genetic testing and imaging biomarkers has led to changes in the definition of HD, which has shifted toward pathologic instead of clinical markers. A third vesicular monoamine transporter 2 inhibitor, valbenazine, is available for the management of chorea in HD. There has been an ongoing focus targeting the early neurodegenerative process in the development of disease-modifying strategies across the spectrum of HD pathophysiology. Approaches include antisense oligonucleotides and micro-RNA, which aim to treat by lowering the abnormal huntingtin protein.

Essential points: Chorea is a hyperkinetic movement occurring in a variety of conditions in both children and adults. This article reviews the identification of chorea and the diagnostic approach to genetic and acquired forms, with a focus on the genetics, presentation, and treatment of HD. The author discusses the diverse landscape of choreiform disorders.

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亨廷顿病和舞蹈病

目的：本文介绍了一种系统的方法来诊断和管理舞蹈病，重点是亨廷顿病（HD）作为一个模型。最新进展：基因检测和成像生物标志物的可用性导致HD的定义发生了变化，它已经转向病理而不是临床标志物。第三种囊泡单胺转运蛋白2抑制剂缬苯嗪可用于治疗舞蹈病。在整个HD病理生理学的疾病改善策略的发展中，一直有一个持续关注的焦点是早期神经退行性过程。方法包括反义寡核苷酸和微rna，其目的是通过降低异常亨廷顿蛋白治疗。要点：舞蹈病是一种发生在儿童和成人各种情况下的多动运动。本文综述了舞蹈病的鉴定和遗传和获得性形式的诊断方法，重点介绍了舞蹈病的遗传学、表现和治疗。作者讨论了舞蹈症的不同景观。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

CONTINUUM Lifelong Learning in Neurology Medicine-Medicine (all)

CiteScore

5.80

自引率

0.00%

发文量

175

期刊介绍： Continue your professional development on your own schedule with Continuum: Lifelong Learning in Neurology®, the American Academy of Neurology" self-study continuing medical education publication. Six times a year you"ll learn from neurology"s experts in a convenient format for home or office. Each issue includes diagnostic and treatment outlines, clinical case studies, a topic-relevant ethics case, detailed patient management problem, and a multiple-choice self-assessment examination.