Ataxia-teleangectasia: neurophysiological studies in 8 patients.
Eight patients affected by Ataxia-Teleangectasia (AT) were studied with a set of neurophysiological tests. The study was done two times between 2 and 10 years. The most characteristic feature was a severe involvement of the posterior spinal cord: it was associated with a moderate peripheral neuropathy as well as a severe peripheral neuropathy. These data could indicate that the dying back phenomena are not the only pathogenetic basis of the spinal cord degeneration in this disease.
D000293:Adolescent; D000328:Adult; D001260:Ataxia Telangiectasia / Q000235:genetics / Q000503:physiopathology*; D001369:Axons / Q000502:physiology; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004558:Electric Stimulation; D004576:Electromyography; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D009046:Motor Neurons / Q000502:physiology; D018482:Muscle, Skeletal / Q000294:innervation; D009410:Nerve Degeneration / Q000502:physiology; D009460:Neurologic Examination; D010525:Peripheral Nerves / Q000503:physiopathology*; D013116:Spinal Cord / Q000503:physiopathology*; D009435:Synaptic Transmission / Q000235:genetics / Q000502:physiology*