Racette B A, Perlmutter J S
Department of Neurology and Neurologic Surgery, Washington University School of Medicine, St Louis, MO 63110, USA.
J Neurol Neurosurg Psychiatry. 1998 Oct;65(4):577-9. doi: 10.1136/jnnp.65.4.577.
A patient is reported on with Huntington's disease who, as an adult, first developed severe parkinsonism with bradykinesia, rigidity, postural instability and festinating gait. His clinical signs were similar to those of the Westphal variant of Huntington's disease except that he also had resting tremor and a supranuclear gaze palsy. Magnetic resonance imaging showed caudate and putamen atrophy. Genetic analysis disclosed 49 triple CAG repeats in allele 1 and 17 in allele 2 confirming the diagnosis of Huntington's disease. Treatment with levodopa produced substantial functional motor improvement with a 17 point reduction in the unified Parkinson's disease rating scale (UPDRS) motor subscale including reduction of tremor, bradykinesia, and postural instability. This is the first report of a patient with adult onset Huntington's disease with parkinsonism responsive to levodopa.
本文报告了一名患有亨廷顿舞蹈症的患者，该患者成年后首次出现严重的帕金森症，伴有运动迟缓、僵硬、姿势不稳和慌张步态。其临床症状与亨廷顿舞蹈症的韦斯特法尔变异型相似，但他还伴有静止性震颤和核上性凝视麻痹。磁共振成像显示尾状核和壳核萎缩。基因分析显示，等位基因1中有49个CAG三联体重复，等位基因2中有17个，从而确诊为亨廷顿舞蹈症。左旋多巴治疗使患者的运动功能得到显著改善，统一帕金森病评定量表（UPDRS）运动子量表评分降低了17分，包括震颤、运动迟缓及姿势不稳均有所减轻。这是首例关于成年起病的亨廷顿舞蹈症伴帕金森症且对左旋多巴有反应的患者的报告。
