title: Transglutaminase 6 antibodies in the diagnosis of gluten ataxia.
abstract: OBJECTIVE
  The previous finding of an immunologic response primarily directed against transglutaminase (TG)6 in patients with gluten ataxia (GA) led us to investigate the role of TG6 antibodies in diagnosing GA.
  
  
  METHODS
  This was a prospective cohort study. We recruited patients from the ataxia, gluten/neurology, celiac disease (CD), and movement disorder clinics based at Royal Hallamshire Hospital (Sheffield, UK) and the CD clinic, Tampere University Hospital (Tampere, Finland). The groups included patients with idiopathic sporadic ataxia, GA, and CD, and neurology and healthy controls. All were tested for TG6 antibodies. Duodenal biopsies were performed in patients with positive serology. In addition, biopsies from 15 consecutive patients with idiopathic sporadic ataxia and negative serology for gluten-related disorders were analyzed for immunoglobulin A deposits against TG.
  
  
  RESULTS
  The prevalence of TG6 antibodies was 21 of 65 (32%) in idiopathic sporadic ataxia, 35 of 48 (73%) in GA, 16 of 50 (32%) in CD, 4 of 82 (5%) in neurology controls, and 2 of 57 (4%) in healthy controls. Forty-two percent of patients with GA had enteropathy as did 51% of patients with ataxia and TG6 antibodies. Five of 15 consecutive patients with idiopathic sporadic ataxia had immunoglobulin A deposits against TG2, 4 of which subsequently tested positive for TG6 antibodies. After 1 year of gluten-free diet, TG6 antibody titers were significantly reduced or undetectable.
  
  
  CONCLUSIONS
  Antibodies against TG6 are gluten-dependent and appear to be a sensitive and specific marker of GA.
authors.affiliation: Departments of Neurology, Royal Hallamshire Hospital, Sheffield, UK. m.hadjivassiliou@sheffield.ac.uk
authors.forename: Marios
authors.initials: M
authors.lastname: Hadjivassiliou
authors.forename: Pascale
authors.initials: P
authors.lastname: Aeschlimann
authors.forename: David S
authors.initials: DS
authors.lastname: Sanders
authors.forename: Markku
authors.initials: M
authors.lastname: Mäki
authors.forename: Katri
authors.initials: K
authors.lastname: Kaukinen
authors.forename: R A
authors.initials: RA
authors.lastname: Grünewald
authors.forename: Oliver
authors.initials: O
authors.lastname: Bandmann
authors.forename: Nicola
authors.initials: N
authors.lastname: Woodroofe
authors.forename: Gail
authors.initials: G
authors.lastname: Haddock
authors.forename: Daniel P
authors.initials: DP
authors.lastname: Aeschlimann
mesh_terms: D000328:Adult; D000368:Aged; D001259:Ataxia / Q000175:diagnosis* / Q000201:enzymology* / Q000276:immunology; D001323:Autoantibodies / Q000096:biosynthesis*; D015415:Biomarkers / Q000378:metabolism; D002446:Celiac Disease / Q000175:diagnosis / Q000201:enzymology / Q000276:immunology; D015331:Cohort Studies; D055050:Diet, Gluten-Free / Q000639:trends; D005260:Female; D005983:Glutens / Q000009:adverse effects; D006801:Humans; D008297:Male; D008875:Middle Aged; D011446:Prospective Studies; D011503:Transglutaminases / Q000276:immunology*
chemical_list: D001323:Autoantibodies; D015415:Biomarkers; D005983:Glutens; C532876:TGM6 protein, human; D011503:Transglutaminases