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Hypotrophic and dying‐back nerve fibers in Friedreich's ataxia

Eight patients with Friedreich's ataxia showed profound reduction in the density of large myelinated fibers in sural nerve biopsies. The density of small myelinated fibers was normal, but the axonal size and myelin thickness were reduced. Demyelination, presumably secondary to axonal dysfunction, was observed in 3% of the isolated fibers. There was axonal degeneration, including dying-back axons isolated in three specimens, in 2.6% of the isolated fibers. The low incidence of degenerating fibers did not account for loss of myelinated fibers in children. There is probably a defect in maturation of fibers, followed by a dying-back process.