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Glutamic acid decarboxylase autoimmunity in Batten disease and other disorders

From the Center for Aging and Developmental Biology and Department of Biochemistry and Biophysics (Dr. Pearce), University of Rochester School of Medicine and Dentistry, Rochester, NY; Department of Pathology (Dr. Atkinson), University of Florida, College of Medicine, Gainesville, FL; and Neurogenetics (Dr. Tagle), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.

Address correspondence and reprint requests to Dr. David A. Pearce, Center for Aging and Developmental Biology, Department of Biochemistry and Biophysics, Box 645, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642; e-mail: david_pearce{at}urmc.rochester.edu

Degenerative diseases of the CNS, such as stiff-person syndrome (SPS), progressive cerebellar ataxia, and Rasmussen encephalitis, have been characterized by the presence of autoantibodies. Recent findings in individuals with Batten disease and in animal models for the disorder indicate that this condition may be associated with autoantibodies against glutamic acid decarboxylase (GAD), an enzyme that converts the excitatory neurotransmitter glutamate to the inhibitory neurotransmitter -aminobutyric acid (GABA). Anti-GAD autoantibodies could result in excess excitatory neurotransmitters, leading to the seizures and other symptoms observed in patients with Batten disease. The pathogenic potential of GAD autoantibodies is examined in light of what is known for other autoimmune disorders, such as multiple sclerosis, SPS, Rasmussen encephalitis, and type 1 diabetes, and may have radical implications for diagnosis and management of Batten disease.

Received December 3, 2003. Accepted in final form June 3, 2004.

Additional material related to the article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the December 14 issue to find the title link for this article.