Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population.
Alessia MongelliStefania MagriElena SalvatoreElena RizzoAnna De RosaTommasina FicoMarta GattiCinzia GelleraFranco TaroniCaterina MariottiLorenzo NanettiPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2020)
The high frequencies of IAs in HTT and ATXN2 genes suggest a correlation with the prevalence of the diseases in our population and support the hypothesis that IAs could represent a reservoir of new pathological expansions. On the opposite, ATXN1-IA were very rare in respect to the prevalence of SCA1 in our country, and TBP- IA were more frequent than expected, suggesting that other mechanisms could influence the occurrence of novel pathological expansions.