Spinocerebellar Ataxia Type 6 Initially Diagnosed as Alcoholic Cerebellar Degeneration.
Masahiro Namiki, Atsuhiko Sugiyama, Yuki Nakagawa et al.
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Case in brief
A 49-year-old man with excessive alcohol consumption presented with ataxia and no known family history of the condition. He was initially diagnosed with alcoholic cerebellar degeneration, but was subsequently identified as having spinocerebellar ataxia type 6 (SCA6). The report notes that alcoholic cerebellar degeneration can be difficult to diagnose because reliable diagnostic markers and alcohol-intake thresholds predictive of cerebellar degeneration are lacking.
What made this case unusual
Excessive alcohol use and an uninformative family history initially pointed toward an acquired cause, while the eventual diagnosis was inherited SCA6.
Diagnostic / clinical pearl
In a patient with ataxia and heavy alcohol use, reconsider alcoholic cerebellar degeneration when clinical or imaging findings are atypical; an uninformative family history does not exclude SCA6.