Familial extrapyramidal disease with peripheral neuropathy.
A family is presented in which 10 members over three generations developed a Parkinsonian syndrome. Two siblings had additional clinical and electrophysiological evidence of an associated peripheral neuropathy and sural nerve biopsy in one case revealed axonal loss. This is the third family reported in the literature in which an extrapyramidal syndrome is associated with neuropathy, but differs from earlier reports in that neuropathic involvement was due to axonal degeneration rather than segmental demyelination.
D000328:Adult; D001369:Axons / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D009431:Neural Conduction; D010300:Parkinson Disease / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000209:etiology / Q000235:genetics*; D013497:Sural Nerve / Q000473:pathology