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NEUROLOGY 2004;62:2122-2123
© 2004 American Academy of Neurology
Brief Communications

A novel MPZ gene mutation in congenital neuropathy with hypomyelination

A. Kochanski, MD PhD, H. Drac, MD PhD, D. Kabzinska, MSc, B. Ryniewicz, MD PhD, K. Rowinska-Marcinska, MD PhD, A. Nowakowski, BSc and I. Hausmanowa-Petrusewicz, MD PhD

From the Neuromuscular Unit (Drs. Kochanski, Drac, Rowinska-Marcinska, and Hausmanowa-Petrusewicz, D. Kabzinska and A. Nowakowski), Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland; and Department of Neurology (Drs. Drac, 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

Congenital hypomyelinating neuropathy (CHN; MIM# 605253) is a severe neuropathy with early infancy onset inherited as an autosomal dominant or recessive trait. Sural nerve biopsy shows a characteristic picture of nonmyelinated and poorly myelinated axons with basal lamina onion bulbs and lack of myelin breakdown products. Several mutations in the MTMR2, PMP22, EGR2, and MPZ genes have been found in patients with CHN. The authors describe the clinical and morphologic features of a patient with CHN and the identification of a novel Thr124Lys mutation in the MPZ gene.

Received September 16, 2003. Accepted in final form January 29, 2004.






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