Autoimmunity to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease.
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.
Ramirez-Montealegre
D
D
Aab Institute of Biomedical Sciences, Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.
Chattopadhyay
S
S
Curran
T M
TM
Wasserfall
C
C
Pritchard
L
L
Schatz
D
D
Petitto
J
J
Hopkins
D
D
She
J-X
JX
Rothberg
P G
PG
Atkinson
M
M
Pearce
D A
DA
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
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