X-linked bulbo-spinal neuronopathy: a family study of three patients.
The clinical features of two brothers and one nephew with X-linked recessive bulbo-spinal neuronopathy are described. The neurophysiological investigations and sural nerve biopsy, previously unreported, confirmed that both motor and sensory nerves are affected. Because of the genetic implications, the importance is stressed of recognising this disorder as a separate entity which should not be classified with the spinal muscular atrophies.
D000328:Adult; D000368:Aged; D003402:Creatine Kinase / Q000378:metabolism; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics* / Q000473:pathology; D009431:Neural Conduction; D009475:Neurons, Afferent / Q000473:pathology / Q000502:physiology; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D014960:X Chromosome
D003402:Creatine Kinase