• Hereditary ataxias are caused by repeat expansions in specific genes.
  • Testing for repeat expansions is recommended before Next-Generation Sequencing (NGS) analysis.
  • Key clinical features often include cerebellar ataxia and other systemic manifestations.
  • MRI findings can assist in the diagnosis by revealing characteristic patterns of atrophy.
  • The spectrum of spinocerebellar ataxias (SCAs) varies widely in clinical features, onset age, and genetic causes.
  • Repeat expansion size influences severity and associated systemic manifestations.
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