Ujike H, Nakashima M, Kuroda S, Otsuki S
Rinsho Shinkeigaku. 1989 Jul;29(7):890-4.
Two siblings of juvenile parkinson's disease dystonic type (JPA Yokochi type 3) and hereditary progressive dystonia with marked diurnal fluctuation (Segawa, HPD) were reported. The family had consanguinity. The elder brother suffered from resting tremor of legs, left foot dystonia and left pes equinovarus at the age of 12 years and 5 months. At the age of 15, he developed tremor and rigidity of upper extremities. These symptoms did not show diurnal fluctuation and markedly responded to L-dopa treatment. He implicated wearing-off phenomenon at the age of 16, and on-off phenomenon and L-dopa-induced dyskinesia at the age of 18. He was diagnosed as JPA Yokochi type 3. The younger brother suffered from left pes equinovarus, right scoliosis and foot dystonia at the age of 8 years. These symptoms showed remarkable diurnal fluctuation, which ameliorated after sleep or rest and worsened afternoon. He noticed fine postural tremor of upper extremities at psychological tense state and right pes varus at the age of 16. He received L-dopa at the age of 17 and became to be remission. He was diagnosed as HPD. Since these two disorders related to basal ganglia show similar clinical symptoms mainly consisting of foot dystonia and similar clinicopharmacological response to L-dopa, it has been assumed that shared abnormalities in pathomechanism can exist between them. This study indicates that the same gene-regulated abnormality may participate in the development of these two disorders.
报道了两例青少年帕金森病肌张力障碍型（横池3型）和伴有明显昼夜波动的遗传性进行性肌张力障碍（濑川病，HPD）的兄弟姐妹。该家族有血缘关系。哥哥在12岁5个月时出现腿部静止性震颤、左足肌张力障碍和左马蹄内翻足。15岁时，他出现上肢震颤和僵硬。这些症状无昼夜波动，对左旋多巴治疗反应明显。他在16岁时出现疗效减退现象，18岁时出现开关现象和左旋多巴诱发的异动症。他被诊断为横池3型青少年帕金森病。弟弟在8岁时出现左马蹄内翻足、右脊柱侧弯和足部肌张力障碍。这些症状有明显的昼夜波动，睡眠或休息后改善，下午加重。他在16岁时心理紧张状态下出现上肢细微姿势性震颤和右足内翻。他17岁时接受左旋多巴治疗并缓解。他被诊断为HPD。由于这两种与基底神经节相关的疾病表现出相似的临床症状，主要包括足部肌张力障碍，以及对左旋多巴相似的临床药理反应，因此推测它们之间可能存在共同的病理机制异常。本研究表明，相同的基因调控异常可能参与这两种疾病的发生发展。
