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

《Chinese Journal of Rehabilitation Theory and Practice》 ›› 2018, Vol. 24 ›› Issue (11): 1355-1360.doi: 10.3969/j.issn.1006-9771.2018.11.019

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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)

Abstract

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

CLC Number:

R742

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

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