Recent studies have demonstrated that Sam68 at first, and two other RBPs, the MBNL1 and HNRNPG later, are sequestered by expanded CGG repeats (55–200) on the Fmr1 mRNA [180], causing Fragile-X-associated tremor/ataxia syndrome (FXTAS). The gene discussed is KHDRBS1; the disease is fragile X-associated tremor/ataxia syndrome.