Clinical and neuropathologic findings in a woman with the FMR1 premutation and multiple sclerosis.
Arch Neurol
; 65(8): 1114-6, 2008 Aug.
Article
en En
| MEDLINE
| ID: mdl-18695063
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 OUTCOMEMEASURES:
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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Esclerosis Múltiple Recurrente-Remitente
/
Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil
/
Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Female
/
Humans
/
Middle aged
Idioma:
En
Año:
2008
Tipo del documento:
Article