Atypical Phenotype in a Spinocerebellar Ataxia Type 2 Kindred

BACKGROUND: Non-ataxic manifestations in autosomal dominant cerebellar ataxias are variable and influenced by CAG repeat length and age at onset. This report describes a genetically proven SCA2 kindred with an atypical phenotype resembling SCA3. CASE REPORT: The phenotype of five genetically proven patients with SCA2 in this report differed from the typical phenotype owing to persistence of reflexes late into the course of illness, absence of peripheral neuropathy, and very prominent facial twitches. DISCUSSION: Despite descriptions of typical phenotypes of SCA, significant variations occur, especially within kindreds. Caution should be exercised in clinical diagnoses of SCA, especially with atypical features.