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A subtle presentation of a treatable cause of predominant hemidystonia with minimal ataxia

      Highlights

      • Ataxia with Vitamin E deficiency is a young-onset autosomal recessive cerebellar ataxia.
      • It is rare; the exact prevalence is unknown, but may range from 0.6 to 3.5 per million.
      • It is important to recognise, as it is treatable with high dose Vitamin E supplementation.
      • Ataxia with Vitamin E Deficiency may present without pronounced cerebellar ataxia.
      • Presentations of young-onset dystonia should prompt consideration of Vitamin E testing, even where other features suggesting AVED are minimal.

      Keywords

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