表现为少年帕金森综合征的遗传性痉挛性截瘫11型1例报道  

Hereditary Spastic Paraparesis(SPG11) Initially Appearing as Juvenile Parkinsonism: A Case Report

作　　者：王展[1,2] 赵惠卿 王雪梅[1,2] 杨雅琴 冯涛[1,2,3] 马惠姿 WANG Zhan;ZHAO Hui-qing;WANG Xue-mei;YANG Ya-qin;FENG Tao;MA Hui-zi(Center for Neurodegenerative Disease,Department of Neurology,Beijing Tiantan Hospital,Capital Medical University,Beijing 100050,China;China National Clinical Research Center for Neurological Disease,Beijing 100050,China;Parkinson's Disease Center,Beijing Institute for Brain Disorder,Capital Medical University,Beijing 100050,China)

机构地区：[1]首都医科大学附属北京天坛医院神经病学中心神经变性病科,北京市100050 [2]国家神经系统疾病临床医学研究中心,北京市100050 [3]北京脑重大疾病研究院帕金森病研究所,北京市100050

出　　处：《中国康复理论与实践》2018年第11期1355-1360,共6页Chinese Journal of Rehabilitation Theory and Practice

基　　金：国家自然科学基金面上项目(No.81771367; No.81571226);首都临床特色应用研究专项课题(No.Z171100001017041);"十三五"国家重点研发计划(No.2016YFC1306501);北京市科委基金项目(No.Z151100003915150)~~

摘　　要：目的报道1例首发症状为少年帕金森综合征的遗传性痉挛性截瘫11型(SPG11)患儿。方法描述1例13岁发病的27岁男性患者的临床资料。结果患者首发为抖动、肢体僵硬,逐渐出现运动迟缓、行走困难,服用左旋多巴类药物有效。MRI示胼胝体萎缩和侧脑室周围白质脱髓鞘改变;肌电图示神经传导速度正常。基因检测提示SPG11基因存在两处杂合突变:c.5867-1G>C和c.3687-2A>G。家系分析显示突变分别来自父方和母方,为复合杂合突变。结论 SPG11可以帕金森综合征为首发表现,少年起病的帕金森综合征患儿有必要进行全面基因筛查。Objective To report a novel case of hereditary spastic paraparesis type 11(SPG11)first presenting as juvenile Parkinsonism.Methods A 27 years old man first attack at 13 years old was reviewed.Results Parkinsonism-like features,such as tremor,rigidity,bradykinesia and gradually difficulty walking,were complained,and responded to dopaminergic therapy.MRI showed thin corpus callosum and hyper-intense T2WI lesions in periventricular regions.His nerve conduction velocity was normal.Genetic analysis detected two novel mutations,named c.5867-1G>C and c.3687-2A>G,in spastic paraplegia gene 11,which came from his father and mother separately.Conclusion Parkinsonism may be the inaugural presentation of SPG11,and a genetic test may be needed for the child with juvenile Parkinsonism.

关 键 词：帕金森综合征 遗传性痉挛性截瘫11型 胼胝体发育不良 

分 类 号：R742[医药卫生—神经病学与精神病学]