Clinical and neuropathologic findings in a woman with the FMR1 premutation and multiple sclerosis

Background: Multiple sclerosis (MS) and fragile X-associated tremor/ataxia syndrome (FXTAS) have overlapping clinical signs and symptoms. Objectives: To present a case with evidence of both MS and FXTAS and to discuss the relationship of both disorders. Design: Case report. Setting: Fragile X Research and Treatment Center at the University of California, Davis, Medical Center. Patient: Woman with the FMR1 premutation who died of MS at the age of 52 years. Main Outcome Measures: Magnetic resonance imaging, physical examination, and neuropathologic examination results. Results: Magnetic resonance imaging, physical examination, and autopsy neuropathologic examination revealed diagnostic features of MS and FXTAS. Conclusion: The molecular mechanism of RNA toxicity, including the elevation of alpha B-crystallin levels observed in FXTAS, may lead to enhanced predisposition to autoimmune diseases.