Hereditary Spastic Paraparesis (SPG11) Initially Appearing as Juvenile Parkinsonism: A Case Report / 中国康复理论与实践
Chinese Journal of Rehabilitation Theory and Practice
;
(12): 1355-1360, 2018.
Artigo
em Chinês
| WPRIM
| ID: wpr-923899
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Journal of Rehabilitation Theory and Practice
Ano de publicação:
2018
Tipo de documento:
Artigo
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