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NEUROLOGY 1986;36:1595
© 1986 American Academy of Neurology

Localization of the gene for X-linked spinal muscular atrophy

Kenneth H. Fischbeck, MD, Victor Ionasescu, MD, Albert W. Ritter, Rebecca Ionasescu, MD, Kay Davies, PhD, Sarah Ball, PhD, Peter Bosch, MD, Trude Burns, PhD, Irena Hausmanowa-Petrusewicz, MD, Janina Borkowska, PhD, Steven P. Ringel, MD and Lawrence Z. Stern, MD

Neurology Department, Hospital of the University of Pennsylvania (Dr. Fischbeck and Mr. Ritter), Philadelphia, PA; the University Hospitals (Drs. V. and R. Ionasescu, Bosch, and Burns), Iowa City, IA; the Nuffield Department of Clinical Medicine, John Radcliffe Hospital (Drs. Davies and Ball), Oxford, UK; the Neurology Department, Medical School (Drs. Hausmanowa-Petrusewicz and Borkowska), Warsaw, Poland; the Neurology Department, University of Colorado (Dr. Ringel), Denver, CO; and the University of Arizona (Dr. Stern), Tucson, AZ.

We used probes for DNA polymorphisms on the X chromosome to study genetic linkage in seven families with X-linked adult-onset spinal muscular atrophy. We found significant linkage to the marker DXYS1 on the proximal X chromosome long arm and loose linkage or nonlinkage to markers elsewhere. Our analysis localizes the gene defect for this form of anterior horn cell disease.

Address correspondence and reprint requests to Dr. Fischbeck, Neurology Department, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104.

Supported by a Task Force on Genetics grant from the Muscular Dystrophy Association, by a Clinical Research Grant from the March of Dimes Birth Defects Foundation, and by NIH grants NS00695 and NS08075.

Accepted for publication September 25, 1986.




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