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.

We detected androgen receptor (AR) mRNA expression in various tissues in the patients with X-BSNP and controls using reverse transcription polymerase chain reaction (RT-PCR) and Northern blot analysis. The AR mRNAs were expressed in a wide variety of tissues including the testis, scrotal skin, liver, skeletal and cardiac muscles, sciatic nerve, sympathetic and dorsal root ganglia and spinal cord, and were all abnormally elongated in the size of the CAG repeat in the patients. The mutant AR gene with increased size of tandem CAG repeat was directly transcribed in various tissues, and would be related to a wide spectrum of phenotypic manifestations in X-BSNP.