以光敏性癫痫为主要表现的肌阵挛性癫痫伴肌肉破碎红纤维综合征一家系分析  

A family of MERRF associated with scotosensitive seizures

作　　者：陆慧[1] 武力勇[1] 叶静[1] 王敏[1] 林华[1] 笪宇威[1] 贾建平[1] 

机构地区：[1]首都医科大学宣武医院神经内科,北京100053

出　　处：《脑与神经疾病杂志》2014年第4期245-248,共4页Journal of Brain and Nervous Diseases

基　　金：国家自然科学青年基金(30700241);北京市科技新星项目(2007B069)

摘　　要：目的研究1个以光敏性癫痫为主要表现的肌阵挛性癫痫伴肌肉破碎红纤维综合征(MERRF)家系的临床特点、遗传学特征。方法整理一个以光敏性癫痫为主要表现的肌阵挛性癫痫伴肌肉破碎红纤维综合征家系的临床表现、辅助检查及影像学资料,分析其临床特点和遗传特征。结果该家系呈母系遗传,共4人(包括先证者3个同辈,1个子代)出现肌阵挛表现,先证者以光敏性癫痫为主要表现,其肌肉活检可见典型的破碎红纤维(RRF),先证者的线粒体DNA提示8344位点由A突变为G。结论 MERRF家系少见,可以光敏性肌阵挛癫痫为主要表现。Objective To explore the clinical and hereditary features of a myoclonic epilepsy with ragged -red fibers （MERRF） family with scotosensitive seizures.Methods We collected and analyzed the clinical, auxiliary examination and hereditary documents of a MERRF family with scotosensitive seizures .Results Four members of the family including three siblings and one child presented with myoclonus .Pedigree analysis suggested a maternal transmission.The proband presented with scotosensitive seizures and raggedred fibers in muscle biopsy .Mitochondrial DNA analysis of the proband showed a point mutation from A to G at the 8344th nucleotide position located in the tRNA（Lys） gene.Conclusion This family is manifested as maternal inheritance with confirmed mitochondrial DNA point mutation .

关 键 词：光敏性癫痫 肌阵挛性癫痫伴肌肉破碎红纤维综合征 遗传学 

分 类 号：R742.1[医药卫生—神经病学与精神病学]