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New Routes to Therapy for Spinal and Bulbar Muscular Atrophy

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Abstract

Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy’s disease, is a genetically inherited neuromuscular disorder characterized by loss of lower motor neurons in the brainstem and spinal cord and skeletal muscle fasciculation, weakness, and atrophy. SBMA is caused by expansion of a polyglutamine (polyQ) tract in the gene coding for the androgen receptor (AR). PolyQ expansions cause at least eight other neurological disorders, which are collectively known as polyQ diseases. SBMA is unique in the family of polyQ diseases in that the disease manifests fully in male individuals only. The sex specificity of SBMA is the result of the interaction between mutant AR and its natural ligand, testosterone. Here, we will discuss emerging therapeutic perspectives for SBMA in light of recent findings regarding disease pathogenesis.

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Acknowledgments

We apologize to those authors whose work was not cited in this review due to space limitations. We thank Natalia Nedelsky for editing and commenting on the manuscript. This work was supported by Telethon-Italy (GGP10037), the Muscular Dystrophy Association (196646), Kennedy’s Disease Association, and a Marie Curie Reintegration Grant (FP7-256448).

Conflicts of interest

M.P. received support from Siena Biotech (Italy). The authors have no conflict of interest to declare.

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  1. Department of Neuroscience and Brain Technologies, Istituto Italiano di Tecnologia, via Morego 30, Genova, 16163, Italy

    Anna Rocchi & Maria Pennuto

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  1. Anna Rocchi
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Correspondence to Maria Pennuto.

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Rocchi, A., Pennuto, M. New Routes to Therapy for Spinal and Bulbar Muscular Atrophy. J Mol Neurosci 50, 514–523 (2013). https://doi.org/10.1007/s12031-013-9978-7

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