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NEUROLOGY 2006;66:755-758
© 2006 American Academy of Neurology
Brief Communications

NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations

E. Ricci, MD*, A. Broccolini, MD, PhD*, T. Gidaro, MD, R. Morosetti, MD, C. Gliubizzi, MSc, R. Frusciante, MD, G. M. Di Lella, MD, P. A. Tonali, MD and M. Mirabella, MD, PhD

From the Department of Neuroscience (E.R., A.B., T.G., R.M., C.G., R.F., P.A.T., M.M.) and Institute of Radiology (G.M.D.), Catholic University, Rome; Fondazione Don Carlo Gnocchi Onlus (P.A.T.), Rome; and U.I.L.D.M–Rome Section (E.R.), Rome, Italy.

Address correspondence and reprint requests to Dr. Aldobrando Broccolini, Department of Neuroscience, Catholic University, L.go A. Gemelli 8, 00168 Rome, Italy; e-mail: a.broccolini{at}rm.unicatt.it; or Dr. Massimiliano Mirabella, Department of Neuroscience, Catholic University, L.go A. Gemelli 8, 00168 Rome, Italy; e-mail: mirabella{at}rm.unicatt.it

The authors found that the neural cell adhesion molecule (NCAM) is hyposialylated in hereditary inclusion body myopathy (HIBM) muscle, as suggested by its decreased molecular weight by Western blot. This abnormality represented the only pathologic feature differentiating HIBM due to GNE mutations from other myopathies with similar clinical and pathologic characteristics. If further confirmed in larger series of patients, this may be a useful diagnostic marker of GNE-related HIBM.

*These authors contributed equally to this work.

Supported by grants from The Italian Ministry of Health 2003 to Massimiliano Mirabella and from FIRB 2001 and M.I.U.R. 2003 to Pietro A. Tonali.

Disclosure: The authors report no conflicts of interest.

Received September 2, 2005. Accepted in final form November 28, 2005.




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[Abstract] [Full Text] [PDF]


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