Giant axonal neuropathy. A review

First reported in 1972 by Berg & colleagues, giant axonal neuropathy is a generalized disorder of cytoplasmic intermediate filaments affecting the nervous system particularly. The condition was originally thought to be a disorder of the peripheral nervous system, but clinical and pathological evidence has now accumulated which indicates that the brain and spinal cord are progressively involved. Over 20 cases have been reported to date. All cases reported have developed clumsiness and progressive weakness with hyporeflexia in the first seven years of life. Later dysarthria, cerebellar signs and pyramidal tract disturbances appear. Mental retardation, dementia and seizures are sometimes seen. Tightly curled hair is characteristic of, but not invariably present in, the condition. This disorder, as well as a similar condition affecting dogs, appears to be transmitted by autosomal recessive inheritance. No treatment is effective. Most cases are wheelchair bound or dead by the end of the second decade.