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Arch Neurol. 2008 Aug;65(8):1114-6. doi: 10.1001/archneur.65.8.1114.

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

Author information

1
Department of Pathology, University of California, Davis, Health System, Sacramento, CA 95817, USA.

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

PMID:
18695063
PMCID:
PMC3081275
DOI:
10.1001/archneur.65.8.1114
[Indexed for MEDLINE]
Free PMC Article

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