Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant adult-onset neurodegenerative disorder. Cases may appear sporadic when the family history is uninformative or relatives' symptoms are unrecognized as disease-related. We herein report a 49-year-old male with no family history of ataxia but with excessive alcohol consumption, initially diagnosed with alcoholic cerebellar degeneration (ACD) and subsequently identified as having SCA6. Diagnosing ACD is difficult because reliable diagnostic markers and threshold levels of alcohol intake predicting cerebellar degeneration are lacking. Alternative diagnoses, including SCA6, should be considered when clinical or imaging findings are atypical and the family history is uninformative.
Namiki et al. (Thu,) studied this question.