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

doi:10.3969/j.issn.1006-9771.2018.11.019

《中国康复理论与实践》 ›› 2018, Vol. 24 ›› Issue (11): 1355-1360.doi: 10.3969/j.issn.1006-9771.2018.11.019

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

王展^{1, 2}, 赵惠卿^{1, 2}, 王雪梅^{1, 2}, 杨雅琴^{1, 2}, 冯涛^{1, 2, 3}, 马惠姿^{1, 2}

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

收稿日期:2018-09-04 修回日期:2018-09-26 出版日期:2018-11-20 发布日期:2018-12-26
通讯作者: 马惠姿。E-mail: pkuwz2000@aliyun.com
作者简介:王展(1978-),女,汉族,浙江慈溪市人,博士,副主任医师,主要研究方向：帕金森病及帕金森综合征。
基金资助:
1.国家自然科学基金面上项目(No. 81771367; No. 81571226); 2.首都临床特色应用研究专项课题(No. Z171100001017041); 3.“十三五”国家重点研发计划(No. 2016YFC1306501); 4.北京市科委基金项目(No. Z151100003915150)

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

WANG Zhan^{1, 2}, ZHAO Hui-qing^{1, 2}, WANG Xue-mei^{1, 2}, YANG Ya-qin^{1, 2}, FENG Tao^{1, 2, 3}, MA Hui-zi^{1, 2}

1. Center for Neurodegenerative Disease, Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100050, China;
2. China National Clinical Research Center for Neurological Disease, Beijing 100050, China;
3. Parkinson's Disease Center, Beijing Institute for Brain Disorder, Capital Medical University, Beijing 100050, China

Received:2018-09-04 Revised:2018-09-26 Published:2018-11-20 Online:2018-12-26
Contact: MA Hui-zi. E-mail: pkuwz2000@aliyun.com
Supported by:
Supported by National Natural Science Foundation of China (General) (No. 81771367; No. 81571226), Capital Clinical Application Research Program (No. Z171100001017041), National Key Research and Development Program (No. 2016YFC1306501) and Beijing Science and Technology Commission Fund (No. Z151100003915150)

摘要/Abstract

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。

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

Abstract: 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.

Key words: Parkinsonism, spastic paraplegia gene 11, thin corpus callosum

中图分类号:

R742

王展, 赵惠卿, 王雪梅, 杨雅琴, 冯涛, 马惠姿. 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[J]. 《中国康复理论与实践》, 2018, 24(11): 1355-1360.

WANG Zhan, ZHAO Hui-qing, WANG Xue-mei, YANG Ya-qin, FENG Tao, MA Hui-zi. Hereditary Spastic Paraparesis (SPG11) Initially Appearing as Juvenile Parkinsonism: A Case Report[J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2018, 24(11): 1355-1360.

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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

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