Spinobulbar muscular atrophy (kennedy's disease)

Abstract

Spinobulbar muscular atrophy (SBMA), also known as Kennedy's disease, is an X-linked adult-onset form of motor neuron disease caused by a trinucleotide CAG repeat expansion in the first exon of the androgen receptor gene. This illness, although rare, is one of the better-characterized CAG repeat diseases because the function of the mutant gene, the androgen receptor, is known. This chapter describes the neurobiological basis for the features of this disease. SBMA is a rare form of lower motor neuron degeneration. It serves as a model for the other polyglutamine expansion diseases because the function of the gene is known. However, the mechanism of the toxic affect remains unclear. Compared w..