[X-linked recessive bulbospinal neuropathy (Kennedy syndrome)].
A case of X-linked recessive bulbospinal neuronopathy is reported. Neurophysiological findings were consistent with chronic partial denervation (motor axonopathy) and large fibre sensory axonopathy. DNA analysis showed an abnormal increased size of tandem CAG repeats.
D000368:Aged; D004252:DNA Mutational Analysis; D005808:Genes, Recessive; D008040:Genetic Linkage; D006177:Gynecomastia / Q000235:genetics; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D016133:Polymerase Chain Reaction; D013577:Syndrome; D014960:X Chromosome
X-bunden recessiv bulbospinal neuronopati (Kennedys syndrom).