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
,
4
;
Huizi MA
1
,
2
Author Information
1. 1. Center for Neurodegenerative Disease, Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100050, China
2. 2. China National Clinical Research Center for Neurological Disease, Beijing 100050, China
3. 3. Parkinson'
4. 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.
