作者: Steven B. Dawson , John C. Morgan , Kapil D. Sethi
DOI: 10.1016/J.CLINEURO.2006.03.004
关键词: Pediatrics 、 Degenerative disease 、 Pathology 、 Multiple sclerosis 、 Central nervous system disease 、 Spinocerebellar ataxia 、 Genetic testing 、 Medicine 、 Psychogenic disease 、 Mutation 、 Ataxia 、 Surgery 、 Clinical neurology 、 General Medicine
摘要: Autosomal dominant spinocerebellar ataxias (SCAs) are slowly progressive and have a variable clinical presentation. Overlapping features among the SCAs make diagnosis of these difficult. Even when genetic testing identifies an SCA mutation, clinicians should be vigilant for other causes neurological dysfunction in patients. We report two patients who developed ataxia setting SCA-3 SCA-8 mutations, respectively.