伴肌肉痉挛、疼痛的脊髓小脑性共济失调3型家系研究  

A study of a Chinese family with spinocerebellar ataxia 3 presented with muscle cramp and pain

作　　者：周琴[1] 任杰[2] 彭彬[1] 关景霞[1] 刘静宇[2] 卢祖能[1] 

机构地区：[1]武汉大学人民医院神经内科,430060 [2]华中科技大学人类基因组研究中心和生命科学与技术学院

出　　处：《中华临床医师杂志（电子版）》2013年第5期59-61,共3页Chinese Journal of Clinicians(Electronic Edition)

摘　　要：目的分析伴有肌肉痉挛的脊髓小脑性共济失调3型(SCA3)一家系的临床特点。方法采取家系18名成员的血清,提取DNA进行基因PCR扩增及检测,确定其类型,并对家系成员的临床表现、头颅磁共振、药物疗效等进行分析。结果该家系6代人中,17人有步态不稳等表现,其中6人已死亡,在世的家系成员中有6人除步态不稳外,还伴有不同程度肌肉痉挛、疼痛等表现,对家系中的18人进行基因检测,其中12人PCR扩增发现相应位点CAG异常重复,证实为SCA3型,先证者头颅MRI发现小脑萎缩,给予卡马西平片治疗,可明显缓解肌肉痉挛、疼痛等症状。结论报道一个以肌肉痉挛、疼痛为主要临床表现的SCA3型一家系,并发现卡马西平片对缓解SCA3伴发的肌肉痉挛有一定疗效。Objective To investigate the clinical feature of a spinocerebellar ataxia 3 （SCA3）family,the main presentation of which is ataxia accompanied with muscle cramp and pain.Methods We took the serum of 18 members in the family,extracted the DNA and determined the clinical type through the PCR.The characteristics of the clinical presentation,the image of the brain MRI and the treatment were also analyzed.Results Seventeen members of the family presented of ataxia,and six of them were dead.Among the eleven members who were still alive,there were six accompanied with muscle cramp and pain.The results of the genetic analysis of the eighteen families found abnormal CAG repeat in the ATXN3,thus the final diagnosis of SCA3 was made.The brain MRI of the proband showed obvious atrophy of the cerebellum.Treatment with carbamazepine can significantly relieve the muscle cramp and the pain.Conclusions We reported a family of SCA3 accompanied with prominently muscle cramp and pain,and found carbamazepine can effectively ameliorate the symptom.

关 键 词：脊髓小脑共济失调 MACHADO-JOSEPH病 痉挛 疼痛 卡马西平 

分 类 号：R744[医药卫生—神经病学与精神病学]