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NEUROLOGY 2004;63:2180-2183
© 2004 American Academy of Neurology
Brief Communications

Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene

M. V. De Angelis, MD, MSc, A. Di Muzio, MD, PhD, M. Capasso, MD, PhD, C. Angiari, MD, T. Cavallaro, MD, G. M. Fabrizi, MD, PhD, N. Rizzuto, MD and A. Uncini, MD

From the Neurodegenerative Diseases Unit (Drs. De Angelis, Di Muzio, Capasso, and Uncini), Aging Research Center, Ce.S.I., "G d’Annunzio University Foundation Chieti-Pescara"; and the Section of Clinical Neurology, Department of Neurological and Visual Sciences (Drs. Angiari, Cavallaro, Fabrizi, and Rizzuto), University of Verona, Italy.

Address correspondence and reprint requests to Prof. Antonino Uncini, Clinica Neurologica, Ospedale "SS. Annunziata," Via dei Vestini, I-66013, Chieti, Italy; e-mail: uncini{at}unich.it

The authors report in patients with Val102/fs null mutation a possibly age dependent variability of clinical and electrophysiologic phenotype, segmental conduction abnormalities mainly in ulnar nerves at the elbow, and excessive myelin foldings and thickenings. The authors hypothesize that myelin thickenings at the paranodal region, in concurrence with compression at usual entrapment sites or minor repetitive trauma, may induce segmental conduction abnormalities.

Received March 22, 2004. Accepted in final form July 22, 2004.






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