伴认知功能障碍及痉挛性疼痛脊髓小脑性共济失调3型一家系研究

A study of a Chinese family of spinocerebellar ataxia 3 with spastic pain and cognitive dysfunction

目的对伴痉挛性疼痛脊髓小脑性共济失调3型(SCA3)一家系进行临床表现及基因检测分析,探讨其临床和遗传特征,及其痉挛性疼痛的治疗方法。方法通过对SCA一家系先证者临床表现、基因检测确定SCA3亚型;检测家系成员有关SCA3基因;分析该家系中患者的临床表现、遗传特征;对伴肌肉痉挛的患者给予加巴喷丁胶囊治疗并观察疗效。结果该家系5代人中,在世的4位患者,其共同表现为小脑性共济失调、口齿不清、腱反射亢进、眼睑退缩,其中2人伴有不同程度肌肉痉挛性疼痛。先证者具有认知功能障碍。先证者及其无症状女儿和另一患者检测SCA3相关基因的CAG重复数分别为72、76、78次。2例伴肌肉痉挛疼痛的患者,接受加巴喷丁胶囊治疗,症状缓解明显。结论 SCA3具有临床表现和遗传异质性,同时加巴喷丁胶囊对缓解SCA3伴发的肌肉痉挛可能有效。

Objective To explore the clinical and genetic features of a spinocerebellar ataxia 3 pedigree with muscle spasm by analy-sis of clinical manifestation and gene and discuss on the treatment of spastic pain. Methods The SCA3 subtype of the SCA proband was de-termined according to clinical manifestation and genetic testing. We took the serum of members in the family and detected the related gene. The characteristics of the clinical presentation and genetic characteristics in the pedigree were analyzed. The patients with the muscle spasm were remedied with gabapentin capsule, and the efficacy was observed. Results Of 5 generations in the family, there were 4 surviving pa-tients. Their common disorders were cerebellar ataxia, slurred speech, tendon reflexes hyperfunction and eyelid atrophy. Among the 4 pa-tients, there were two accompanied with muscle varying degrees of cramp and pain. The proband had cognitive dysfunction. For gene detec-tion of the proband, asymptomatic daughter and another patient, SCA3 gene CAG repeat numbers were 72, 76 and 78, respectively. The treatment with gabapentin capsules could effectively relieve the muscle cramp and the pain. Conclusion SCA3 has the clinical and genetic heterogeneity. Gabapentin capsules may be effective in relieving SCA3 associated muscle spasm.