Early and severe autonomic failure: broadening the clinical phenotype of type-2 spinocerebellar ataxia. A case report
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Spinocerebellar ataxia 2 (SCA2) is an autosomal dominant cerebellar disorder  associated to abnormal CAG repeat expansion in the ATXN2 gene (12q23-24). The clinical features include gait ataxia, dysarthria, saccade slowing, peripheral neuropathy and amyotrophy. Autonomic nervous system dysfunction is part of SCA2 clinical picture  in later stage of disease . We describe a patient carrying SCA2 mutation with ataxia and severe autonomic failure in early stage of disease.
KeywordsMultiple System Atrophy Autonomic Dysfunction Spinocerebellar Ataxia SCA2 Patient Gait Ataxia
We thank Professor Paolo Lamberti for giving clinical insight for this patient.
Conflicts of interest
The authors report no conflicts of interest or funding sources.
Patient’s anonymity was protected in this case report.
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