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.
Publication types
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Comparative Study
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adolescent
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Adult
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Antibody Specificity
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Autoantibodies / analysis
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Autoantibodies / blood
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Autoantibodies / immunology*
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Autoantigens / immunology*
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Autoimmune Diseases / genetics
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Autoimmune Diseases / immunology*
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Child
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Child, Preschool
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Diabetes Mellitus, Type 1 / immunology
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Epitopes / immunology
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Female
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Glutamate Decarboxylase / immunology*
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HLA Antigens / genetics
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Humans
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Infant
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Insulin / immunology
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Islets of Langerhans / immunology
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Male
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Membrane Glycoproteins / deficiency
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Membrane Glycoproteins / genetics
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Membrane Proteins / immunology
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Middle Aged
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Molecular Chaperones / genetics
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Neuronal Ceroid-Lipofuscinoses / genetics
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Neuronal Ceroid-Lipofuscinoses / immunology*
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Protein Tyrosine Phosphatase, Non-Receptor Type 1
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Protein Tyrosine Phosphatases / immunology
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Receptor-Like Protein Tyrosine Phosphatases, Class 8
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Stiff-Person Syndrome / immunology
Substances
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Autoantibodies
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Autoantigens
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CLN3 protein, human
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Epitopes
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HLA Antigens
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ICA512 autoantibody
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Insulin
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Membrane Glycoproteins
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Membrane Proteins
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Molecular Chaperones
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islet cell antibody
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PTPRN protein, human
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Protein Tyrosine Phosphatase, Non-Receptor Type 1
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Protein Tyrosine Phosphatases
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Receptor-Like Protein Tyrosine Phosphatases, Class 8
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Glutamate Decarboxylase