Giant axonal neuropathy is a rare condition. There is a high proportion of spontaneous cases, but reports of autosomal recessive inheritance exist. y Symptoms begin in childhood with a slowly progressive peripheral motor and sensory neuropathy. Patients often have characteristically abnormal tight curly black hair. Central nervous system involvement can include intellectual impairment, optic atrophy, cerebellar ataxia and nystagmus, and corticospinal disturbance. Death usually occurs in adolescence.
The presence of intermediate filaments in a variety of cell types suggests that the abnormality is not confined to axons and hair. Decreases in disulfides and increases in thiol groups have been noted in hair samples from patients, but the primary cause of this disorder is unknown. y Investigation may show mildly reduced motor conduction velocities and sensory nerve action potentials. Diagnosis is made by nerve biopsy, which shows evidence of axonal loss with focal swellings along the nerve, which on electron microscopy are seen to contain neurofilament accumulations. The management is supportive.
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