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

• Manabu Doyu

• Gen Sobue

• Eiichiro Mukai

• Teruhiko Kachi

• Takeshi Yasuda

• Terunori Mitsuma

• Akira Takahashi

抄録

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.

収録刊行物

• Annals of Neurology

  Annals of Neurology 32 (5), 707-710, 1992-11

  Wiley

キーワード

• Neurology (clinical)
• Neurology

詳細情報

• CRID: 1363670319311483264
• NII論文ID: 30008832781
• DOI: 10.1002/ana.410320517
• ISSN: 15318249
• ISSN: 03645134
• ISSN: http://id.crossref.org/issn/03645134
• Web Site: https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fana.410320517
• Web Site: https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.410320517
• データソース種別:
  • Crossref
  • CiNii Articles