What causes X-linked spinobulbar muscular atrophy (SBMA) (Kennedy disease)?

Updated: Apr 28, 2014
  • Author: Hidehiro Takei, MD; Chief Editor: Adekunle M Adesina, MD, PhD  more...
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Answer

Answer

X-linked spinobulbar muscular atrophy (SBMA) is caused by an expansion of a polymorphic tandem CAG repeat in the first exon of the androgen-receptor gene located on chromosome Xq11-q12, which encodes a polyglutamine stretch that may be a substrate for the caspases (cysteine protease cell death executioners).


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