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Pathology

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Pathologically, Friedreich's ataxia shows:

  • characteristically small spinal cord, especially in the thoracic region
  • marked degeneration in the posterior columns and lateral columns, especially the corticospinal and posterior spinocerebellar tracts
  • dorsal roots and peripheral nerves shrunken in advanced cases
  • Purkinje cell loss and atrophy of the dentate nucleus in the cerebellum
  • corticobulbar tract and cerebrum relatively unaffected
  • peripheral nerves show segmental demyelination
  • heart may show enlargement due to thickening of the muscle and a diffuse fibrosis

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