Androgen receptor mRNA with increased size of tandem CAG repeat is widely expressed in the neural and nonneural tissues of X-linked recessive bulbospinal neuronopathy.
These findings suggest that the androgen action was aberrantly transduced in the target organs in the patients with X-BSNP and which is related to the elongated CAG repeat in the androgen receptor gene.
Our data suggest that molecular genetic studies are important in confirming the diagnosis of X-BSN and early detection of female carriers, and the random or non-random methylation pattern of the X-chromosome is not a determining factor for partial expression of the abnormal AR gene in some carriers.