title: Anti-neuronal antibodies in patients with fragile X syndrome: is there a role of autoimmunity in its pathogenesis?
abstract: BACKGROUND
  Fragile X syndrome (FXS) is a single-gene disorder with a broad spectrum of involvement, including cognitive and behavioural impairments of varying degrees with specific physical features and a strong association with autism.
  
  
  OBJECTIVE
  In this study, the frequency of serum anti-neural antibodies was investigated in FXS patients who did and those who did not manifest autism spectrum disorders (ASD) in comparison to typically developing controls.
  
  
  METHODS
  The study involved 23 males (mean age, 19.78 ± 6.56 years) who harboured a full mutation in the FMR1 gene. The control group comprised 19 healthy students (mean age 24.63 ± 1.89 years). Serum anti-neuronal antibodies were analyzed using Western blotting.
  
  
  RESULTS
  Serum anti-neuronal antibodies were present in 10/23 (43.48%) FXS males.
  
  
  CONCLUSIONS
  Serum anti-neuronal antibodies were found in a subgroup of FXS patients. Autistic symptoms in FXS may, in part, be caused by auto-immune factors. Further studies in larger patient and control groups are necessary to elucidate the aetiopathogenic role of anti-neuronal antibodies in FXS patients.
authors.affiliation: Department of Molecular Biology and Genetics, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland.
authors.forename: Małgorzata Zofia
authors.initials: MZ
authors.lastname: Lisik
authors.forename: Ewa
authors.initials: E
authors.lastname: Gutmajster
authors.forename: Aleksander L
authors.initials: AL
authors.lastname: Sieroń
mesh_terms: D000293:Adolescent; D000328:Adult; D000888:Antibodies, Anti-Idiotypic / Q000097:blood* / Q000276:immunology / Q000502:physiology; D015551:Autoimmunity / Q000502:physiology*; D016022:Case-Control Studies; D002659:Child Development Disorders, Pervasive / Q000097:blood / Q000209:etiology / Q000276:immunology; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000097:blood / Q000209:etiology* / Q000276:immunology*; D006801:Humans; D008607:Intellectual Disability / Q000097:blood / Q000209:etiology / Q000276:immunology; D008297:Male; D009154:Mutation / Q000235:genetics; D009474:Neurons / Q000276:immunology*; D055815:Young Adult
chemical_list: D000888:Antibodies, Anti-Idiotypic; D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human