期刊
ARCHIVES OF NEUROLOGY
卷 65, 期 8, 页码 1114-1116出版社
AMER MEDICAL ASSOC
DOI: 10.1001/archneur.65.8.1114
关键词
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资金
- NCRR NIH HHS [UL1 RR024922, RR024922] Funding Source: Medline
- NIA NIH HHS [RL1 AG032115, AG032115, RL1 AG032119, AG032119, RL1 AG032115-02] Funding Source: Medline
- NICHD NIH HHS [HD02274, P30 HD002274, R01 HD036071, HD36071, R01 HD036071-10] Funding Source: Medline
- NINDS NIH HHS [NS044299, R01 NS044299] Funding Source: Medline
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.
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