The function, if any, of this splicing isoform is currently unknown and the dysregulation of the alternative splicing process and the levels of expression of the ASFMR1 could be part of the pathogenesis of FXTAS as could be the case for the FMR1 gene (Tseng et al., 2017). Here, FMR1 is linked to fragile X-associated tremor/ataxia syndrome.