Sexual Reassignment Fails to Prevent Kennedy's Disease

Tyler A. Lanman*, Dara Bakar, Nisha M. Badders, Ailbhe Burke, Angela Kokkinis, Joseph A. Shrader, Galen O. Joe, Alice B. Schindler, Laura C. Bott, George G. Harmison, J. Paul Taylor, Kenneth H. Fischbeck, Christopher Grunseich

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Spinal and bulbar muscular atrophy is caused by polyglutamine expansion in the androgen receptor. As an X-linked disease dependent on androgens, symptoms and findings are only fully manifest in males. Here we describe a 40-year-old male-to-female transgender SBMA patient who developed full disease manifestations despite undetectable levels of androgens. We used cell culture and animal models to show that spironolactone, the anti-androgen she had taken for 15 years, promotes nuclear localization and toxicity of the mutant protein, which may explain the disease manifestations in this patient.

Original languageEnglish (US)
Pages (from-to)121-125
Number of pages5
JournalJournal of neuromuscular diseases
Issue number1
StatePublished - 2016


  • Motor neuron disease
  • X-Linked
  • androgen
  • bulbo-spinal atrophy
  • receptors
  • spironolactone

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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