Autoimmunity to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease

• Published in: Neurology Vol. 64; no. 4; pp. 743 - 745
• Main Authors: RAMIREZ-MONTEALEGRE, D, CHATTOPADHYAY, S, ATKINSON, M, PEARCE, D. A, CURRAN, T. M, WASSERFALL, C, PRITCHARD, L, SCHATZ, D, PETITTO, J, HOPKINS, D, SHE, J.-X, ROTHBERG, P. G
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 22-02-2005
• Subjects: Adolescent; Adult; Antibody Specificity; Autoantibodies - analysis; Autoantibodies - blood; Autoantibodies - immunology; Autoantigens - immunology; Autoimmune Diseases - genetics; Autoimmune Diseases - immunology; Biological and medical sciences; Child; Child, Preschool; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Diabetes Mellitus, Type 1 - immunology; Epitopes - immunology; Female; Glutamate Decarboxylase - immunology; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; HLA Antigens - genetics; Humans; Infant; Insulin - immunology; Islets of Langerhans - immunology; Male; Medical sciences; Membrane Glycoproteins - deficiency; Membrane Glycoproteins - genetics; Membrane Proteins - immunology; Middle Aged; Molecular Chaperones - genetics; Nervous system (semeiology, syndromes); Neurology; Neuronal Ceroid-Lipofuscinoses - genetics; Neuronal Ceroid-Lipofuscinoses - immunology; Protein Tyrosine Phosphatase, Non-Receptor Type 1; Protein Tyrosine Phosphatases - immunology; Receptor-Like Protein Tyrosine Phosphatases, Class 8; Stiff-Person Syndrome - immunology; Autoimmunity; Glutamic acid; Carbon-carbon lyases; Decarboxylase; Nervous system diseases; Enzyme; Carboxy-lyases; Lyases
• ISSN: 0028-3878; 1526-632X
• DOI: 10.1212/01.WNL.0000151973.08426.7E

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.