Hereditary Spastic Paraparesis (SPG11) Initially Appearing as Juvenile Parkinsonism: A Case Report
10.3969/j.issn.1006-9771.2018.11.019
- VernacularTitle: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
- Author:
Zhan WANG
1
,
2
;
Huiqing ZHAO
1
,
2
;
Xuemei WANG
1
,
2
;
Yaqin YANG
1
,
2
;
Tao FENG
1
,
2
,
3
;
Huizi MA
1
,
2
Author Information
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
- Publication Type:Journal Article
- Keywords:
Parkinsonism, spastic paraplegia gene 11, thin corpus callosum
- From:
Chinese Journal of Rehabilitation Theory and Practice
2018;24(11):1355-1360
- CountryChina
- Language:Chinese
-
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.
