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Charcot–Marie–Tooth disease with giant axons

A clinicopathological and genetic entity

From the Department of Neurological Sciences (Drs. Lus, Ammendola, Melone, and Cotrufo), First Division of Clinical Neurology, Faculty of Medicine, Second University of Naples and Interuniversity Center for Research in Neuroscience, Naples, Italy; Molecular Genetics Department (Drs. Nelis, Jordanova, Timmerman, and De Jonghe, A. Löfgren), Peripheral Neuropathy Group, Flanders Interuniversity Institute for Biotechnology (VIB), Born-Bunge Foundation (BBS), University of Antwerp (UIA), Antwerp, Belgium; Division of Neurology (Dr. De Jonghe), University Hospital Antwerp (UZA), Antwerp, Belgium; and Department of Neurological and Visual Sciences (Drs. Cavallaro and Rizzuto), Section of Clinical Neurology, University of Verona, Italy.

Address correspondence and reprint requests to Dr. G. Lus, Department of Neurological Sciences, First Division of Clinical Neurology, Faculty of Medicine, Second University of Naples, v. Pansini 5, ed. 10, 80131 Naples, Italy; e-mail: giacomo.lus{at}unina2.it

The authors report an Italian family with autosomal-dominant Charcot–Marie–Tooth disease (CMT) in which there were giant axons in the sural nerve biopsy. Linkage to the known CMT2 loci (CMT2A, CMT2B, CMT2D, CMT2F) and mutations in the known CMT2 genes (Cx32, MPZ, NEFL), GAN, NEFM, and CMT1A duplication/HNPP deletion were excluded. This family with CMT and giant axons has a pathologic and genetic entity distinct from classic CMT.

Received November 13, 2002. Accepted in final form June 26, 2003.

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 October 14 issue to find the title link for this article.

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