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NEUROLOGY 1996;47:761-765
© 1996 American Academy of Neurology

Two divergent types of nerve pathology in patients with different P sub 0 mutations in Charcot-Marie-Tooth disease

A. A. W.M. Gabreels-Festen, MD, PhD, J. E. Hoogendijk, MD, PhD, P.H.S. Meijerink, PhD, F. J.M. Gabreels, MD, PhD, P. A. Bolhuis, PhD, S. van Beersum, T. Kulkens, PhD, E. Nelis, PhD, F. G.I. Jennekens, MD, PhD, M. de Visser, MD, PhD, B. G.M. van Engelen, MD, PhD, C. Van Broeckhoven, PhD and E. C.M. Mariman, PhD

From the Institute of Neurology (Drs. Gabreels-Festen, Gabreels, and van Engelen), University Hospital Nijmegen; Department of Neurology (Drs. Hoogendijk and Jennekens), University Hospital Utrecht; Department of Neurology (Drs. Meijerink, Bolhuis, Kulkens, and de Visser), Academic Medical Center, Amsterdam; Department of Human Genetics (S. van Beersum and Dr. Mariman), University of Nijmegen, The Netherlands; and Laboratory of Neurogenetics (Drs. Nelis and Broeckhoven), University of Antwerp, Belgium.
Supported by the Dutch `Prinses Beatrix Fonds.'
Received December 5, 1995. Accepted in final form March 21, 1996.
Address correspondence and reprint requests to Dr. AAWM Gabreels-Festen, Institute of Neurology, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

In seven unrelated patients with a demyelinating motor and sensory neuropathy, we found mutations in exons 2 and 3 of the P sub 0 gene.Morphologic examination of sural nerve biopsy specimens showed a demyelinating process with onion bulb formation in all cases. In four patients, ultrastructural examination demonstrated uncompacted myelin in 23 to 68% of the myelinated fibers, which is in agreement with the widely accepted function of P0 as a homophilic adhesion molecule. Three patients showed normal compact myelin, but morphology was dominated by the abundant occurrence of focally folded myelin. The two divergent pathologic phenotypes exemplify that some mutations act differently on P0 protein formation or function than others, which is probably determined by site and nature of the mutation in the P0 gene.

NEUROLOGY 1996;47: 761-765




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