Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene.

@article{Amato1993KennedysDA,
  title={Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene.},
  author={Anthony A. Amato and Thomas W. Prior and Richard J Barohn and Pamela J. Snyder and Audrey C. Papp and Jerry R. Mendell},
  journal={Neurology},
  year={1993},
  volume={43 4},
  pages={791-4}
}
We confirmed a mutation of the androgen receptor gene as the cause for Kennedy's disease, also called "X-linked recessive spinal and bulbar muscular atrophy" or "bulbospinal neuronopathy." The mutation is characterized by an increased size of a polymorphic tandem CAG repeat within the first exon of the gene. The study population consisted of 17 patients from seven families (five distinct kinships and two isolated cases). Two patients were as yet asymptomatic and had normal examinations. Four… CONTINUE READING

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