Pathogenic Mechanisms and Therapeutic Strategies in Spinobulbar Muscular Atrophy

Author(s): Jason P. Chua, Andrew P. Lieberman.

Journal Name: CNS & Neurological Disorders - Drug Targets

Volume 12 , Issue 8 , 2013

Become EABM
Become Reviewer

Abstract:

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).

Rights & PermissionsPrintExport Cite as


Article Details

VOLUME: 12
ISSUE: 8
Year: 2013
Page: [1146 - 1156]
Pages: 11
DOI: 10.2174/187152731131200124
Price: $58

Article Metrics

PDF: 28