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一个患有遗传性青少年肌张力障碍-帕金森综合征的家族。

A family with hereditary juvenile dystonia-parkinsonism.

作者信息

Ishikawa A, Miyatake T

机构信息

Department of Neurology, Niigata University, Japan.

出版信息

Mov Disord. 1995 Jul;10(4):482-8. doi: 10.1002/mds.870100413.

Abstract

We report a family with autosomal dominant type hereditary juvenile dystonia-parkinsonism in which eight members in three generations exhibited parkinsonism, sleep benefit, marked efficacy of levodopa, wearing-off phenomenon, and dopa-induced choreic dyskinesia. However, one case showed mainly dystonic movement that worsened after administration of levodopa. The patients in this family showed neck dystonia, such as torticollis and retrocollis, in addition to foot dystonia and other dystonic movement, such as frequently lifting the thigh. From the family history and clinical findings, these patients are considered to have a specific form of hereditary dystonia-parkinsonism.

摘要

我们报告了一个常染色体显性遗传型遗传性青少年肌张力障碍 - 帕金森综合征家系,该家系三代中的八名成员表现出帕金森综合征、睡眠获益、左旋多巴显著疗效、剂末现象和多巴诱导的舞蹈样运动障碍。然而,有一例主要表现为肌张力障碍运动,在给予左旋多巴后病情加重。该家系患者除足部肌张力障碍和其他肌张力障碍运动,如频繁抬腿外,还表现出颈部肌张力障碍,如斜颈和颈后伸。根据家族史和临床发现,这些患者被认为患有遗传性肌张力障碍 - 帕金森综合征的一种特殊形式。

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