While the NS, GZ and PM alleles have an unmethylated FMR1 promoter and express FMRP, the PM alleles have been associated with adult onset disorders including fragile X-associated primary ovarian insufficiency (FXPOI) and the fragile X-associated tremor/ataxia syndrome (FXTAS) [8]. The gene discussed is FMR1; the disease is fragile X-associated tremor/ataxia syndrome.