Furukawa Y, Imai H
Department of Neurology, Juntendo University School of Medicine.
Nihon Rinsho. 1993 Nov;51(11):2983-8.
HPD is a clinical entity characterized by childhood-onset postural dystonia, which shows marked diurnal fluctuation (aggravation of symptoms towards evening and their alleviation in the morning after sleep), and dramatic and sustained response to levodopa without any adverse effects, such as wearing-off or dyskinesia. Since the first report by Segawa et al. (1971), many cases have been reported under the title HPD or related nomenclature. In this review, we describe details of clinical features and recent laboratory studies of HPD, to differentiate it from other disorders manifesting dystonia in childhood. It has been suggested that HPD has a genetically determined abnormality, being restricted to the terminals of the nigrostriatal dopaminergic neurons, which results in reduced dopamine content.
遗传性进行性肌张力障碍（HPD）是一种临床病症，其特征为儿童期起病的姿势性肌张力障碍，症状具有明显的昼夜波动（症状在傍晚加重，睡眠后的早晨缓解），对左旋多巴有显著且持续的反应，且无任何不良反应，如疗效减退或运动障碍。自濑川等人于1971年首次报告以来，已有许多病例以HPD或相关名称被报道。在本综述中，我们描述了HPD的临床特征细节和近期实验室研究情况，以将其与其他在儿童期表现为肌张力障碍的疾病相区分。有人提出，HPD存在由基因决定的异常，这种异常局限于黑质纹状体多巴胺能神经元的终末，导致多巴胺含量降低。
