Spinocerebellar Ataxia Type 6 Initially Diagnosed as Alcoholic Cerebellar Degeneration

Abstract

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.

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BibTeX RIS

BibTeX

@article{namiki2026spinocerebellar,
  title = {{Spinocerebellar Ataxia Type 6 Initially Diagnosed as Alcoholic Cerebellar Degeneration}},
  author = {Masahiro Namiki and Atsuhiko Sugiyama and Yuki Nakagawa and Takayuki Ishige and Yoshikazu Nakano and Shoichi Ito and Masahiro Mori},
  journal = {Internal Medicine},
  year = {2026},
  month = oct,
  doi = {10.2169/internalmedicine.6831-25},
  url = {https://www.jstage.jst.go.jp/article/internalmedicine/65/19/65_6831-25/_article},
  note = {CC BY-NC-ND},
}

RIS

TY  - JOUR
TI  - Spinocerebellar Ataxia Type 6 Initially Diagnosed as Alcoholic Cerebellar Degeneration
AU  - Masahiro Namiki
AU  - Atsuhiko Sugiyama
AU  - Yuki Nakagawa
AU  - Takayuki Ishige
AU  - Yoshikazu Nakano
AU  - Shoichi Ito
AU  - Masahiro Mori
PY  - 2026
DA  - 2026/10/01
JO  - Internal Medicine
DO  - 10.2169/internalmedicine.6831-25
UR  - https://www.jstage.jst.go.jp/article/internalmedicine/65/19/65_6831-25/_article
AB  - 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.
SN  - 1349-7235
SN  - 0918-2918
ER  -

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