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

Claudia M. Greco, Flora Tassone, Dolores Garcia-Arocena, Nicole Tartaglia, Sarah M. Coffey, Timothy K. Vartanian, James A Brunberg, Paul J Hagerman, Randi J Hagerman

Research output: Contribution to journalArticle

51 Scopus citations

Abstract

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 αB-crystallin levels observed in FXTAS, may lead to enhanced predisposition to autoimmune diseases.

Original languageEnglish (US)
Pages (from-to)1114-1116
Number of pages3
JournalArchives of Neurology
Volume65
Issue number8
DOIs
StatePublished - Aug 2008

ASJC Scopus subject areas

  • Neuroscience(all)

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