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Long-term treatment with leuprorelin for spinal and bulbar muscular atrophy
  1. Hiroshi Mitsumoto
  1. Correspondence to Dr Hiroshi Mitsumoto, Department of Neurology, Columbia University Medical Center, New York, USA; hm264{at}

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No testosterone for spinal and bulbar muscular atrophy (SBMA)

Spinal and bulbar muscular atrophy (SBMA), later termed Kennedy disease, was first described clinically in 1968.1 The disease is sex linked, recessively inherited and manifests in adulthood with slowly progressive bulbar dysfunction, limb weakness, giant fasciculations and gynaecomastia. Its molecular basis was discovered in 19912: the expansion of a trinucleotide CAG repeat that encodes the polyglutamine (polyQ) tract in the first exon of the androgen receptor (AR) gene. This neurodegenerative disease is sometimes mistaken as amyotrophic lateral sclerosis (ALS), but typical clinical features and diagnostic molecular testing clearly distinguishes SBMA from ALS. SBMA progresses at a much slower pace and involves slowly progressive weakness and aspiration, resulting in pneumonia and shorter survival in some patients. It has no effective treatment.3 4 Currently, potential treatments are approached via two completely different strategies. The first strategy is hormonal treatment because androgen is a ligand for the AR, which is mutated in SBMA. The second strategy is molecular treatment directly targeting the mutated AR. The first approach is based on observations in transgenic mice carrying the full-length human AR gene with an expanded polyQ tract; these mice exhibit neuromuscular phenotypes that are profound in male mice and similar to human SBMA.5 These SBMA-like phenotypes are rescued by castration and aggravated by testosterone administration. Leuprorelin, a luteinising hormone-releasing hormone …

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  • Competing interests None declared.

  • Provenance and peer review Commissioned; internally peer reviewed.

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