THE BULBOSPINAL NEURONOPATHY ANDROGEN REC EPTOR GENE DEFECT IS NOT SHARED BY PATIENTS WITH AMYOTROPHIC-LATERAL-SCLEROSIS

Based on the hypothesis of androgen receptor dysfunction in amyotrophi c lateral sclerosis (ALS), the CAG-repeat stretch of exon 1 of the and rogen receptor gene was analysed in 12 ALS patients, since abnormal le ngth of this repeat is pathogenic for the motoneuron disease of X-link ed bulbospinal neuronopathy. Repeat length in all ALS patients was nor mal. Therefore, a different defect of motoneuron androgen receptors th an abnormal CAG-repeat expansion, if present at all, should be respons ible for ALS.