SCA2 is the most prevalent of the polyQ ataxias in Cuba, India, Mexico, and Southern Italy, and the second most prevalent worldwide, accounting for 15% of all cases (
Antenora et al., 2017). An infantile onset is an uncommon occurrence presentation with only nine reports in the literature and is associated with extremely large CAG expansions (range 100–200 repeats). On the other hand, there are severe infantile cases with expansions between 50-70 repeats, sometimes is related with interruption CTG or CAA as occurs in adults with SCA2 and amyotrophic lateral sclerosis, which also leads to instability of
ATXN2 mRNA (
Choudhry et al., 2001;
Antenora et al., 2017), and meiotic instability a general feature of SCA2 without a familial history (
Babovic et al., 1998;
Mao et al., 2002;
Moretti et al., 2004;
Dirik et al., 2007;
Abdel and Zaki, 2008;
Paciorkowski et al., 2011;
Di Fabio et al., 2012;
Vinther-Jensen et al., 2013;
Singh et al., 2014). However, cases with infantile SCA2 are explain by these features; there are childhood onset cases reported with mosaicism in germ cells such as spermatozoa with larger expanded alleles more than in peripheral blood cells (
Moretti et al., 2004;
Dirik et al., 2007;
Abdel and Zaki, 2008;
Vinther-Jensen et al., 2013).