Matsuo H, Okano M, Kaida K, Tadano Y, Kamakura K
Third Department of Internal Medicine, National Defense Medical College.
Rinsho Shinkeigaku. 1997 Oct;37(10):905-9.
We present the first report of Japanese family with paroxysmal dystonic choreoathetosis (PDC). At least seventeen individuals of this family in six generations were affected by PDC by autosomal dominant inheritance. The affected individuals had attacks of choreoathetosis/dystonia-like involuntary movements without loss of consciousness. These attacks were precipitated by stress, caffeine, menstruation or ovulation, but not by sudden voluntary movements, which are common precipitating factors in paroxysmal kinesigenic choreoathetosis (PKC). MRI studies of the brain revealed no abnormalities. Some of the family members received clonazepam, or garlic with significant therapeutic effects, while one female case improved after hysterectomy. The pathogenesis of PDC remains unknown, but it could be attributed to a form of channelopathy. Recently, two linkage studies were reported and the PDC locus was identified on chromosome 2q, which may lead to clarify the PDC gene. The family described here may be important for the future biochemical and genetic analyses. We also suspect that PDC may relate to endocrinological abnormalities besides channelopathy.
我们报告了首例患阵发性肌张力障碍性舞蹈手足徐动症（PDC）的日本家族。该家族六代中至少有17人受PDC影响，呈常染色体显性遗传。患病个体出现舞蹈手足徐动症/肌张力障碍样不自主运动发作，且意识无丧失。这些发作由压力、咖啡因、月经或排卵诱发，但不像阵发性运动诱发性舞蹈手足徐动症（PKC）那样由突然的随意运动诱发，后者是常见的诱发因素。脑部MRI研究未发现异常。一些家族成员接受氯硝西泮或大蒜治疗，效果显著，而一名女性患者子宫切除术后病情改善。PDC的发病机制尚不清楚，但可能归因于某种形式的离子通道病。最近有两项连锁研究报道，已在2号染色体q上确定了PDC基因座，这可能有助于阐明PDC基因。此处描述的家族可能对未来的生化和基因分析具有重要意义。我们还怀疑，除离子通道病外，PDC可能与内分泌异常有关。
