RT Journal Article SR Electronic T1 A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 179 OP 181 DO 10.1136/jmg.2007.054171 VO 45 IS 3 A1 D Z Loesch A1 M Cook A1 L Litewka A1 E Gould A1 A Churchyard A1 F Tassone A1 H R Slater A1 E Storey YR 2008 UL http://jmg.bmj.com/content/45/3/179.abstract AB Fragile X-associated tremor/ataxia (FXTAS) is a late onset disorder caused by a premutation in the FMR1 gene, in which neurological symptoms are associated with white matter (wm) changes, especially within the middle cerebellar peduncles (MCP sign), seen on magnetic resonance images (MRIs). We report a discrepancy between obvious radiological presentations and minimal clinical involvement in two younger male premutation carriers. These carriers, aged 52 and 39 years, showed distinct MCP sign, but reported no neurological symptoms. If this discrepancy represents the initial stage of FXTAS, our findings suggest the possibility of early diagnosis from MRI scans.