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Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease
  1. Raquel Manzano1,
  2. Gianni Sorarú2,
  3. Christopher Grunseich3,
  4. Pietro Fratta4,
  5. Emanuela Zuccaro5,
  6. Maria Pennuto5,6,
  7. Carlo Rinaldi1
  1. 1Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK
  2. 2Department of Neurosciences, Neuromuscular Center, University of Padova, Padova, Italy
  3. 3Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
  4. 4Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK
  5. 5Department of Biomedical Sciences, University of Padova, Padova, Italy
  6. 6Dulbecco Telethon Institute, Centre for Integrative Biology, University of Trento, Trento, Italy
  1. Correspondence to Dr Carlo Rinaldi, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3QX, UK; carlo.rinaldi{at}


Kennedy’s disease, or spinal and bulbar muscular atrophy (SBMA), is an X-linked neuromuscular condition clinically characterised by weakness, atrophy and fasciculations of the limb and bulbar muscles, as a result of lower motor neuron degeneration. The disease is caused by an abnormally expanded triplet repeat expansions in the ubiquitously expressed androgen receptor gene, through mechanisms which are not entirely elucidated. Over the years studies from both humans and animal models have highlighted the involvement of cell populations other than motor neurons in SBMA, widening the disease phenotype. The most compelling aspect of these findings is their potential for therapeutic impact: muscle, for example, which is primarily affected in the disease, has been recently shown to represent a valid alternative target for therapy to motor neurons. In this review, we discuss the emerging study of the extra-motor neuron involvement in SBMA, which, besides increasingly pointing towards a multidisciplinary approach for affected patients, deepens our understanding of the pathogenic mechanisms and holds potential for providing new therapeutic targets for this disease.

  • neuromuscular
  • motor neuron disease
  • neurogenetics

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  • Contributors RM and CR: substantial contributions to the conception or design of the work. RM, GS, CG, PF, EZ, MP, and CR: drafting the work or revising it critically for important intellectual content and final approval of the version to be published.

  • Competing interests None declared.

  • Provenance and peer review Commissioned; externally peer reviewed.

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