Giant axonal neuropathy: correlation of clinical findings with postmortem neuropathology.
We report the clinical and postmortem neuropathological findings in a case of long-standing giant axonal neuropathy. The patient, a caucasian male with kinky hair, was first seen at 4 years of age because of increasing unsteadiness of gait. Clinical examination showed nystagmus, cerebellar ataxia, distal sensory loss, and weakness. A sural nerve biopsy at 8 years of age revealed giant axonal neuropathy. The patient became increasingly demented and was incapacitated by weakness and ataxia; he died at 18 years of age. Histological examination of the brain and spinal cord showed numerous Rosenthal fibers, a distal axonopathy that most severely affected the corticospinal tracts, middle cerebellar peduncles, and posterior columns, and olivocerebellar degeneration.
D000293:Adolescent; D001253:Astrocytes / Q000378:metabolism / Q000473:pathology; D001369:Axons / Q000473:pathology*; D001921:Brain / Q000473:pathology*; D005904:Glial Fibrillary Acidic Protein / Q000378:metabolism; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000378:metabolism / Q000473:pathology*
D005904:Glial Fibrillary Acidic Protein