DECREASE IN ANDROGEN-BINDING AND EFFECT OF ANDROGEN TREATMENT IN A CASE OF X-LINKED BULBOSPINAL NEURONOPATHY

X-linked recessive bulbospinal neuronopathy is a motoneuron disorder t o be distinguished from amyotrophic lateral sclerosis. Effective treat ment is not known. Patients with X-linked recessive bulbospinal neuron opathy may show gynecomastia and testicular atrophy, and a mutation in the androgen receptor gene has been found associated with the disease . Intermediate steps leading from the androgen receptor abnormality to the clinical syndrome have not yet been elucidated. Therefore, bindin g of androgen ([H-3]dihydro-testosterone) to its specific receptor by genital skin fibroblasts cultured from a patient with X-linked recessi ve bulbospinal neuronopathy and confirmed androgen receptor mutation w as studied. Markedly decreased binding capacity was found. We treated the patient for 6 months with nandrolone-decanoate. No effect on his n euromuscular status was observed during 2 years of follow-up.