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Neurology 2002;59:1776-1779
© 2002 American Academy of Neurology
Brief Communications

GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM

Olavo M. Vasconcelos, MD, Raghavan Raju, PhD and Marinos C. Dalakas, MD

From the Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.

Address correspondence and reprint requests to Dr. Marinos C. Dalakas, Chief, Neuromuscular Diseases Section, NINDS, NIH, Building 10, Room 4N248, 10 Center Drive MSC 1382, Bethesda, Maryland 20892-1382; e-mail: dalakasm{at}ninds.nih.gov

Analysis for GNE mutations was performed in an American, non-Iranian Jewish, family with quadriceps-sparing inclusion body myopathy (QS-IBM) and in 11 patients with sporadic IBM (s-IBM). Two novel nonallosteric site missense mutations were found in the QS-IBM kinship. No mutations were identified in s-IBM patients. After 8 years of follow-up and severe disease progression, the quadriceps muscle in the QS-IBM patient remains strong despite subclinical involvement documented with repeat MRI and muscle biopsy.




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