pathology

Last reviewed 10/2023

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