The existing evidence from neuroradiological and clinical observations, combined with the recent report of the presence of intranuclear inclusions in both FXTAS and non-FXTAS (including asymptomatic) PM carriers (21), further suggests the continuity of underlying structural pathology within the CNS associated with the FMR1 premutation carriage. The gene discussed is FMR1; the disease is fragile X-associated tremor/ataxia syndrome.