Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene

Ann Neurol. 1992 Nov;32(5):707-10. doi: 10.1002/ana.410320517.


The genetic mutation of X-linked recessive bulbospinal neuronopathy is amplification of a polymorphic tandem CAG repeat in the androgen receptor gene. We studied this CAG repeat in 26 Japanese patients from 21 families with X-linked recessive bulbospinal neuronopathy. The number of CAG repeats was significantly correlated with the age at onset of limb muscular weakness (r = -0.596, p < 0.001) and age-adjusted scored disability (r = 0.446, p < 0.03). The length of the CAG repeat therefore seems to be a determinant factor of clinical severity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Base Sequence
  • Family
  • Humans
  • Middle Aged
  • Molecular Sequence Data
  • Neuromuscular Diseases / genetics*
  • Receptors, Androgen / genetics*
  • Repetitive Sequences, Nucleic Acid*


  • Receptors, Androgen