title: Autoimmunity to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease.
abstract: The pathogenic mechanisms underlying Batten disease are unclear. Patients uniformly possess autoantibodies against glutamic acid decarboxylase (GAD) that are predominantly reactive with a region of GAD (amino acids 1 to 20) distinct from subjects with autoimmune type 1 diabetes or stiff-person syndrome. Batten patients did not possess autoantibodies against other type 1 diabetes-associated autoantigens and human leukocyte antigen genotypes revealed no specific associations with this disease.
authors.affiliation: Aab Institute of Biomedical Sciences, Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.
authors.forename: D
authors.initials: D
authors.lastname: Ramirez-Montealegre
authors.forename: S
authors.initials: S
authors.lastname: Chattopadhyay
authors.forename: T M
authors.initials: TM
authors.lastname: Curran
authors.forename: C
authors.initials: C
authors.lastname: Wasserfall
authors.forename: L
authors.initials: L
authors.lastname: Pritchard
authors.forename: D
authors.initials: D
authors.lastname: Schatz
authors.forename: J
authors.initials: J
authors.lastname: Petitto
authors.forename: D
authors.initials: D
authors.lastname: Hopkins
authors.forename: J-X
authors.initials: JX
authors.lastname: She
authors.forename: P G
authors.initials: PG
authors.lastname: Rothberg
authors.forename: M
authors.initials: M
authors.lastname: Atkinson
authors.forename: D A
authors.initials: DA
authors.lastname: Pearce
mesh_terms: D000293:Adolescent; D000328:Adult; D000918:Antibody Specificity; D001323:Autoantibodies / Q000032:analysis / Q000097:blood / Q000276:immunology*; D001324:Autoantigens / Q000276:immunology*; D001327:Autoimmune Diseases / Q000235:genetics / Q000276:immunology*; D002648:Child; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000276:immunology; D000939:Epitopes / Q000276:immunology; D005260:Female; D005968:Glutamate Decarboxylase / Q000276:immunology*; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D007223:Infant; D007328:Insulin / Q000276:immunology; D007515:Islets of Langerhans / Q000276:immunology; D008297:Male; D008562:Membrane Glycoproteins / Q000172:deficiency / Q000235:genetics; D008565:Membrane Proteins / Q000276:immunology; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics / Q000276:immunology*; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1; D017027:Protein Tyrosine Phosphatases / Q000276:immunology; D054635:Receptor-Like Protein Tyrosine Phosphatases, Class 8; D016750:Stiff-Person Syndrome / Q000276:immunology
chemical_list: D001323:Autoantibodies; D001324:Autoantigens; C105199:CLN3 protein, human; D000939:Epitopes; D006680:HLA Antigens; C096322:ICA512 autoantibody; D007328:Insulin; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D018832:Molecular Chaperones; C024211:islet cell antibody; C516862:PTPRN protein, human; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1; D017027:Protein Tyrosine Phosphatases; D054635:Receptor-Like Protein Tyrosine Phosphatases, Class 8; D005968:Glutamate Decarboxylase