成人起病型肌阵挛性亨廷顿病

Adult onset myoclonic Huntington's disease.

作者信息

Carella F, Scaioli V, Ciano C, Binelli S, Oliva D, Girotti F

机构信息

Prima Divisione di Neurologia, Istituto Nazionale Neurologico C. Besta, Milano, Italy.

出版信息

Mov Disord. 1993 Apr;8(2):201-5. doi: 10.1002/mds.870080216.

DOI:10.1002/mds.870080216

PMID:8474490

Abstract

A patient with adult onset Huntington's disease (HD) and prominent action myoclonus is described. Neither epileptiform activity nor electroencephalography (EEG) correlates of the movements was found. Unlike the case with most (nonmyoclonic) HD patients, centro-parietal components of somatosensory evoked potentials (SEPs) were well defined and a clear V2 response was found. Treatment with valproic acid greatly reduced myoclonus suggesting that the gamma-aminobutyric acid (GABA) system might be involved in the pathophysiology of myoclonus in HD.

摘要

本文描述了一名患有成年期起病的亨廷顿舞蹈症（HD）且伴有显著动作性肌阵挛的患者。未发现癫痫样活动或与运动相关的脑电图（EEG）表现。与大多数（非肌阵挛性）HD患者不同，体感诱发电位（SEP）的中央顶叶成分清晰可辨，且发现了明确的V2反应。丙戊酸治疗使肌阵挛显著减轻，提示γ-氨基丁酸（GABA）系统可能参与了HD肌阵挛的病理生理过程。