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NEUROLOGY 2005;64:533-535
© 2005 American Academy of Neurology
Brief Communications

Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci

A. Kochanski, MD, PhD, M. Kennerson, PhD, M. Kawulak, B. Ryniewicz, MD, PhD, K. Rowinska-Marcinska, MD, PhD, G. Walizada, BSc, A. Nowakowski, BSc, I. Hausmanowa-Petrusewicz, MD, PhD and G. A. Nicholson, MD, PhD

From the Neuromuscular Unit (Dr. Kochanski, M. Kawulak, Dr. Rowinska- Marcinska, A. Nowakowski, and Dr. Hausmanowa-Petrusewicz), Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland; University of Sydney Neurobiology Laboratory (Dr. Kennerson, G. Walizada, and Dr. Nicholson), Anzac Research Institute, Concord Hospital, New South Wales, Australia; and Department of Neurology (Drs. Ryniewicz and Rowinska- Marcinska), Medical University, Warsaw, Poland.

Address correspondence and reprint requests to Dr. Andrzej Kochanski, Neuromuscular Unit, Polish Academy of Sciences, Medical Research Centre, Pawinskiego 5, 02-106 Warsaw, Poland; e-mail: andko{at}cmdik.pan.pl

Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2) is a heterogeneous group of disorders with seven chromosomal loci mapped in the uncomplicated forms of CMT2. The authors report clinical, electrophysiologic, and genetic analysis of a Polish CMT2 family. Nine known CMT2 gene loci and one MPZ gene locus have been excluded. The authors’ findings suggest that this family represents a novel form of CMT2 disease.

Supported by grant no. 2P05B from the Polish State Committee for Scientific Research and grant no. 153895 from the National Health and Medical Research Council of Australia (G.A.N. and M.K.).

Received April 6, 2004. Accepted in final form September 16, 2004.






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