Biomarkers of spinal and bulbar muscle atrophy (SBMA): A comprehensive review

Giorgia Querin, Peter Bede, Veronique Marchand-Pauvert, Pierre Francois Pradat

Research output: Contribution to journalReview articlepeer-review

33 Citations (Scopus)


Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a rare, X-linked, late onset neuromuscular disorder. The disease is caused by a CAG trinucleotide repeat expansion in the first exon of the androgen receptor gene. It is characterized by slowly progressive lower motor neurons degeneration, primary myopathy and widespread multisystem involvement. Respiratory involvement is rare, and the condition is associated with a normal life expectancy. Despite a plethora of therapeutic studies in mouse models, no effective disease-modifying therapy has been licensed for clinical use to date. The development of sensitive monitoring markers for the particularly slowly progressing pathology of SBMA is urgently required to aid future clinical trials. A small number of outcome measures have been proposed recently, including promising biochemical markers, which show correlation with clinical disability and disease-stage and progression. Nevertheless, a paucity of SBMA-specific biomarker studies persists, delaying the development of monitoring markers for pharmaceutical trials. Collaborative efforts through international consortia and multicenter registries are likely to contribute to the characterization of the natural history of the condition, the establishment of disease-specific biomarker panels and ultimately contribute to the development of disease-modifying drugs.

Original languageEnglish
Article number844
JournalFrontiers in Neurology
Issue numberOCT
Publication statusPublished (in print/issue) - 10 Oct 2018


  • Biomarkers
  • Clinical trials
  • Multisystem involvement
  • Outcome measures
  • SBMA


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