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Late onset Charcot–Marie–Tooth 2 syndrome caused by two novel mutations in the MPZ gene

From the Institute of Medical Biology and Human Genetics (Drs. Auer–Grumbach and Wagner, C. Windpassinger, and T. Robl) and Department of Neurology (Dr. Strasser–Fuchs), Karl Franzens University Graz, Austria.

Address correspondence and reprint requests to Dr. M. Auer–Grumbach, Institute of Medical Biology and Human Genetics, Harrachgasse 21/8, A-8010 Graz, Austria; e-mail: michaela.auergrumbach{at}kfunigraz.ac.at

MPZ gene mutations cause demyelinating and axonal Charcot–Marie–Tooth (CMT) disease. Two novel MPZ mutations are reported in very late onset and progressive CMT syndrome. The N60H caused axonal CMT in a large family, whereas the I62M occurred in a single patient presenting with a primary axonal neuropathy. Previously, chronic polyradiculoneuritis was assumed in two patients. Molecular genetic testing and particularly screening for MPZ mutations in late onset neuropathies are important to differentiate acquired and inherited neuropathies.

Received February 26, 2003. Accepted in final form July 21, 2003.

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				H M E Bienfait, C G Faber, F Baas, A A W M Gabreels-Festen, J H T M Koelman, J E Hoogendijk, J J Verschuuren, J H J Wokke, and M de Visser Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation J. Neurol. Neurosurg. Psychiatry, April 1, 2006; 77(4): 534 - 537. [Abstract] [Full Text] [PDF]

				J. Kamholz, M. E. Shy, M. Auer-Grumbach, S. Strasser-Fuchs, T. Robl, C. Windpassinger, and K. Wagner Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene Neurology, July 13, 2004; 63(1): 194 - 194. [Full Text] [PDF]

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