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.
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.
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.