Genotype-phenotype correlation in Chinese patients with spinal and bulbar muscular atrophy

PLoS One. 2015 Mar 26;10(3):e0122279. doi: 10.1371/journal.pone.0122279. eCollection 2015.


Spinal and bulbar muscular atrophy (SBMA) is an X-linked recessive motor neuron disease characterized by slowly progressive weakness and atrophy of proximal limbs and bulbar muscles. To assess the genotype-phenotype correlation in Chinese patients, we identified 155 patients with SBMA and retrospectively examined available data from laboratory tests and neurophysiological analyses. Correlations between genotype and phenotype were analyzed. There was an inverse correlation between the length of CAG repeats and age at first muscle weakness (p<0.0001). The serum creatine kinase level showed a significant inverse correlation with disease duration and the age at examination (p=0.019 and p=0.004, respectively). Unlike previous classification of motor- and sensory-dominant phenotypes, all findings of nerve conduction, except the amplitudes of median nerve compound motor action potential, were positively correlated to the length of CAG repeats. A significant decline in sensory nerve action potential amplitudes may assist differential diagnosis of SBMA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • China
  • Electromyography
  • Genetic Association Studies*
  • Genotype*
  • Humans
  • Male
  • Middle Aged
  • Muscular Atrophy, Spinal / diagnosis*
  • Muscular Atrophy, Spinal / genetics*
  • Neural Conduction
  • Phenotype*
  • Retrospective Studies
  • Trinucleotide Repeat Expansion*
  • Young Adult

Grants and funding

This work was supported by the grant from the National Natural Science Foundation to WZY (81125009, Beijing), The funding sources had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.