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Clinically disparate stiff-person syndrome with GAD65 autoantibody in a father and daughter

From Department of Neurology (Drs. Burns and Jones), Lahey Clinic, Burlington, MA; Department of Neurology (Drs. Burns and Phillips), University of Virginia, Charlottesville; Roche Molecular Systems (T.L. Bugawan and Dr. Erlich), Department of Human Genetics, Alameda, CA; and Departments of Immunology, Neurology, and Laboratory Medicine and Pathology (Dr. Lennon), Mayo Clinic, Mayo Graduate and Medical Schools, Rochester, MN.

Address correspondence and reprint requests to Dr. Ted M. Burns, University of Virginia, Department of Neurology, PO Box 800394, Charlottesville, VA 22908; e-mail: tmb8r{at}virginia.edu

Stiff-person syndrome (SPS) is a sporadic autoimmune disorder characterized by muscle stiffness with painful spasms and usually a high level of GAD65 antibody. The authors report familial SPS associated with GAD65 antibody. The clinical presentations were disparate; the father had an appendicular form of SPS and the daughter’s axial SPS presented with episodic opisthotonos.

Received April 25, 2003. Accepted in final form July 17, 2003.

Presented at the 2001 annual meeting of the American Neurological Association; Chicago, IL.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the November 11 issue to find the title link for this article.

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