Miyawaki Toko, Sekiguchi Kenji, Yasui Naoko, Ueda Takehiro, Kanda Fumio, Toda Tatsushi
Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine.
Rinsho Shinkeigaku. 2013;53(4):278-82. doi: 10.5692/clinicalneurol.53.278.
A 31-year-old man was referred to our hospital because of progressive tremor and clumsiness in his limbs and trunk. His symptoms were started in the right leg then gradually spread to all extremities as well as his trunk for 2 years. Neurological examinations revealed muscle rigidity with resting tremor predominantly right limbs. Akinesia and retropulsion were positive. Neither pyramidal tract sign nor cerebellar ataxia was detected. Genetic testing showed the expansion of SCA8 CTA/CTG repeats as 28/141 repeats. Though moderate expansion (less than 92) of SCA8 repeats has been reported in healthy subjects and patients with various diseases, the extraordinary long expansion of CTA/CTG repeats in SCA8 gene in our patient could be significantly pathological. 600 mg/day of L-DOPA clearly improved his symptoms. Dedicate follow up of the clinical course of our patient and the accumulation of the further cases is essential.
一名31岁男性因四肢及躯干进行性震颤和笨拙被转诊至我院。他的症状始于右腿，随后逐渐蔓延至四肢及躯干，持续了2年。神经系统检查发现肌肉僵硬，静止性震颤以右侧肢体为主。运动不能和后推试验呈阳性。未检测到锥体束征和小脑共济失调。基因检测显示SCA8 CTA/CTG重复序列扩增为28/141次重复。尽管在健康受试者和患有各种疾病的患者中已报道SCA8重复序列有中度扩增（少于92次），但我们患者SCA8基因中CTA/CTG重复序列的异常长扩增可能具有显著的病理学意义。每天600毫克左旋多巴明显改善了他的症状。对我们患者的临床病程进行专门随访并积累更多病例至关重要。
