Kennedy disease is at least four times more common

The search for CAG expansion in the AR gene that encodes the androgen receptor using the ExpansionHunter computer tool (a “expansion tracker”) in the genomes of 74,277 unrelated individuals shows a mutationModification soudaine et transmissible du matériel génétique. Elle peut être spontanée ou induite par des agents dits » mutagènes » (radiations, produits toxiques,…). frequency of 1/3,182 X chromosomes.

Based on this mutation frequency in the general population, the calculation of the prevalence of Kennedy’s disease increases to 1/6,888 males, a frequency 4.4 times greater than previously reported (1/30,303 or less).

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population. Zanovello M, Ibáñez K, Brown AL et al. Brain. 2023 Feb 17:awad050.