This Article  • Full text  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Ataxia  • Neurogenetics  • Multiple Sclerosis/ Demyelinating Disease  • Tremor  • Genetic Disorders  • Immunologic Disorders  • Alert me on articles by topic

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

Arch Neurol. 2008;65(8):1114-1116.

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

Author Affiliations: Departments of Pathology (Dr Greco), Biochemistry and Molecular Genetics (Drs Tassone, Garcia-Arocena, and P. J. Hagerman), and Radiology (Dr Brunberg) and the M.I.N.D. (Medical Investigation of Neurodevelopmental Disorders) Institute (Drs Tartaglia and R. J. Hagerman and Ms Coffey), University of California, Davis; and Harvard University, Boston, Massachusetts (Dr Vartanian).