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NEUROLOGY 2005;64:743-745
© 2005 American Academy of Neurology
Brief Communications

Autoimmunity to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease

D. Ramirez-Montealegre, MD, S. Chattopadhyay, PhD, T. M. Curran, MS, C. Wasserfall, MS, L. Pritchard, BS, D. Schatz, MD, J. Petitto, MD, D. Hopkins, MS, J. -X. She, PhD, P. G. Rothberg, PhD, M. Atkinson, PhD and D. A. Pearce, PhD

From the Aab Institute of Biomedical Sciences, Center for Aging and Developmental Biology (Drs. Ramirez-Montealegre, Chattopadhyay, and Pearce, T.M. Curran), Department of Biochemistry and Biophysics (Dr. Pearce), Department of Neurology (Dr. Pearce), and Department of Pathology and Laboratory Medicine (Dr. Rothberg), University of Rochester School of Medicine and Dentistry, Rochester, NY; Department of Pathology (Dr. Atkinson, C. Wasserfall, L. Pritchard), Department of Pediatrics (Dr. Schatz), and Department of Psychiatry (Dr. Petitto), University of Florida, Gainesville, FL; and Center for Biotechnology and Genomic Medicine (Dr. She, D. Hopkins), Medical College of Georgia, Augusta, GA.

Address correspondence and reprint requests to Dr. David A. Pearce, Aab Institute of Biomedical Sciences, Center for Aging and Developmental Biology, 601 Elmwood Ave., University of Rochester School of Medicine and Dentistry, Rochester, NY 14642; e-mail: David_Pearce{at}urmc.rochester.edu

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.




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S. L. Eliason, C. S. Stein, Q. Mao, L. Tecedor, S.-L. Ding, D. M. Gaines, and B. L. Davidson
A Knock-In Reporter Model of Batten Disease
J. Neurosci., September 12, 2007; 27(37): 9826 - 9834.
[Abstract] [Full Text] [PDF]


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