期刊
PARKINSONISM & RELATED DISORDERS
卷 21, 期 10, 页码 1243-1246出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2015.07.015
关键词
SCA; Spinocerebellar ataxia type 1; SCA1; Pyramidal signs; Spasticity
Introduction: The combination of cerebellar ataxia and spasticity is common. However, autosomal dominant genetic diseases presenting with spastic-ataxia are a smaller group. Pyramidal signs have been frequently observed in several SCA subtypes, particularly in spinocerebellar ataxia type 1. Methods: We prospectively evaluated the pyramidal signs and spasticity in SCA1 patients, and correlated the data with genetic and clinical features. Results: In this study, we observed that spasticity may be an early and presenting feature of SCA1, since 3 patients had pyramidal signs and spasticity as the first neurological sign. SCA1 patients with spasticity were significantly younger. Conclusion: SCA1 may rarely present with pure spastic paraplegia, resembling hereditary spastic paraplegia, before the appearance of cerebellar signs. This observation may confuse the neurologist when a genetic testing is requested for an autosomal dominant spastic paraplegia, directing research to hereditary spastic paraplegia group. (C) 2015 Elsevier Ltd. All rights reserved.
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