We review the genetic and clinical features of spinobulbar muscular atrophy (SBMA), a progressive
neuromuscular disorder caused by a CAG/glutamine tract expansion in the androgen receptor. SBMA was the first
polyglutamine disease to be discovered, and we compare and contrast it with related degenerative disorders of the nervous
system caused by expanded glutamine tracts. We review the cellular and animals models that have been most widely used
to study this disorder, and highlight insights into disease pathogenesis derived from this work. These model systems have
revealed critical aspects of the disease, including its hormone dependence, a feature that underlies disease occurrence only
in men with the mutant allele. We discuss how this and other findings have been translated to clinical trials for SBMA
patients, and examine emerging therapeutic targets that have been identified by recent work.
Keywords: Androgen receptor, anti-androgen, CAG/polyglutamine disorder, motor neuron disease, protein aggregation,
spinobulbar muscular atrophy (SBMA).
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