Perspectives of Kennedy's disease

@article{Finsterer2010PerspectivesOK,
  title={Perspectives of Kennedy's disease},
  author={J. Finsterer},
  journal={Journal of the Neurological Sciences},
  year={2010},
  volume={298},
  pages={1-10}
}
  • J. Finsterer
  • Published 2010
  • Medicine
  • Journal of the Neurological Sciences
  • Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare, adult-onset, X-linked, recessive trinucleotide, polyglutamine (poly-G) disorder, caused by expansion of an unstable CAG-tandem-repeat in exon 1 of the androgen-receptor (AR) gene on chromosome Xq11-12. Poly-Q-expanded AR accumulates in nuclei, undergoes fragmentation and initiates degeneration and loss of motor neurons and dorsal root ganglia. Phenotypically, patients present with weakness and wasting of the facial… CONTINUE READING
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