title: Clinical and neuropathologic findings in a woman with the FMR1 premutation and multiple sclerosis.
abstract: BACKGROUND
  Multiple sclerosis (MS) and fragile X-associated tremor/ataxia syndrome (FXTAS) have overlapping clinical signs and symptoms.
  
  
  OBJECTIVE
  To present a case with evidence of both MS and FXTAS and to discuss the relationship of both disorders.
  
  
  METHODS
  Case report.
  
  
  METHODS
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  The molecular mechanism of RNA toxicity, including the elevation of alphaB-crystallin levels observed in FXTAS, may lead to enhanced predisposition to autoimmune diseases.
authors.affiliation: Department of Pathology, University of California, Davis, Health System, Sacramento, CA 95817, USA.
authors.forename: Claudia M
authors.initials: CM
authors.lastname: Greco
authors.forename: Flora
authors.initials: F
authors.lastname: Tassone
authors.forename: Dolores
authors.initials: D
authors.lastname: Garcia-Arocena
authors.forename: Nicole
authors.initials: N
authors.lastname: Tartaglia
authors.forename: Sarah M
authors.initials: SM
authors.lastname: Coffey
authors.forename: Timothy K
authors.initials: TK
authors.lastname: Vartanian
authors.forename: James A
authors.initials: JA
authors.lastname: Brunberg
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Hagerman
authors.forename: Randi J
authors.initials: RJ
authors.lastname: Hagerman
mesh_terms: D000328:Adult; D017809:Fatal Outcome; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics / Q000473:pathology; D006801:Humans; D008875:Middle Aged; D020529:Multiple Sclerosis, Relapsing-Remitting / Q000235:genetics* / Q000473:pathology*; D009154:Mutation / Q000235:genetics*
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human