Thompson P D, Bhatia K P, Brown P, Davis M B, Pires M, Quinn N P, Luthert P, Honovar M, O'Brien M D, Marsden C D
University Department of Clinical Neurology, Guy's Hospital, London, England.
Mov Disord. 1994 Nov;9(6):633-41. doi: 10.1002/mds.870090609.
We describe three patients with Huntington's disease, from two families, in whom myoclonus was the predominant clinical feature. The diagnosis was confirmed at autopsy in two cases and by DNA analysis in all three. These patients all presented before the age of 30 years and were the offspring of affected fathers. Neurophysiological studies documented generalised and multifocal action myoclonus of cortical origin that was strikingly stimulus sensitive, without enlargement of the cortical somatosensory evoked potential. The myoclonus improved with piracetam therapy in one patient and a combination of sodium valproate and clonazepam in the other two. Cortical reflex myoclonus is a rare but disabling component of the complex movement disorder of Huntington's disease, which may lead to substantial diagnostic difficulties.
我们描述了来自两个家庭的三名亨廷顿舞蹈症患者，他们均以肌阵挛为主要临床特征。其中两例经尸检确诊，三例均经DNA分析确诊。这些患者均在30岁之前发病，且均为患病父亲的后代。神经生理学研究记录了起源于皮质的全身性和多灶性动作性肌阵挛，这种肌阵挛对刺激极为敏感，皮质体感诱发电位未增大。其中一名患者使用吡拉西坦治疗后肌阵挛有所改善，另外两名患者使用丙戊酸钠和氯硝西泮联合治疗后肌阵挛有所改善。皮质反射性肌阵挛是亨廷顿舞蹈症复杂运动障碍中一种罕见但致残的症状，可能会导致严重的诊断困难。
