Large-fiber sensory neuronopathy in autosomal dominant spinocerebellar degeneration.
Autosomal dominant hereditary ataxias are heterogeneous groups of disorders in which cerebellar ataxia and pyramidal, extrapyramidal, and extraocular signs predominate. We studied a family with this type of disorder with evidence supporting a large-fiber sensory neuronopathy. Electrophysiologic, histologic, radiologic, and biochemical features were studied. Neuropathic features of some forms of autosomal dominant spinocerebellar degeneration are, therefore, believed to be due to a ganglioneuropathy similar to that described in Friedreich's ataxia.
D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000150:complications / Q000378:metabolism / Q000473:pathology*; D005260:Female; D005621:Friedreich Ataxia / Q000150:complications / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000473:pathology*; D012677:Sensation