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Known aetiology

Authoring team

The hereditary ataxias of known cause can be split into those presenting with intermittent or progressive features:

  • present primarily with intermittent ataxia:
    • disorders of the urea cycle
    • disorders of lactate and pyruvate metabolism
    • Hartnup disease

  • present primarily with progressive ataxia:
    • abetalipoproteinaemia
    • mitochondrial cytopathy
    • Refsum's disease
    • ataxia telangiectasia
    • xeroderma pigmentosa
    • spinocerebellar ataxias type 1,2 & 3

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