FMR1 and fragile X syndrome: Previous research have demonstrated that point mutations of the FMR1 gene are associated with FXS pathogenesis by affecting the function of FMRP.12 To our knowledge, there is no report on the relationship between FMR1 missense mutations and FXTAS, thus this study provides a new contribution of FMR1 missense mutation, to parkinsonism-like phenotypes.