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NEUROLOGY 2004;62:1429-1431
© 2004 American Academy of Neurology
Brief Communications

Giant axon and neurofilament accumulation in Charcot–Marie–Tooth disease type 2E

G. M. Fabrizi, MD PhD, T. Cavallaro, MD, C. Angiari, PhD, L. Bertolasi, MD, I. Cabrini, PhD, M. Ferrarini, PhD and N. Rizzuto, MD

From the Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Italy.

Address correspondence and reprint requests to Dr. G.M. Fabrizi, Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona, Policlinico G.B. Rossi, P.le L.A. Scuro 10, 37134 Verona, Italy; e-mail: gianmaria.fabrizi{at}univr.it

The axonal type 2 Charcot–Marie–Tooth disease (CMT2) is phenotypically poorly characterized. Here the authors report a family with a Pro22Ser mutation in the neurofilament-light gene (NF-L; CMT2E) manifesting electrophysiologically as the demyelinating type 1 CMT (CMT1) and pathologically as an axonopathy with giant axons and accumulation of disorganized NF. NF-L should be investigated in CMT2 as well as in CMT1 not associated with the usual genes PMP22, Cx32, and P0.

Received August 14, 2003. Accepted in final form December 15, 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 April 27 issue to find the title link for this article.




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