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Brain, Vol. 123, No. 5, 1001-1006, May 2000
© 2000 Oxford University Press

Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot–Marie–Tooth type 1A

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C. Oliver Hanemann1, Donatella D'Urso1,*, Anneke A. W. M. Gabreëls-Festen2 and Hans W. Müller1

1 Molecular Neurobiology Laboratory, Department of Neurology, Heinrich-Heine-University, Duesseldorf, Germany and 2 Institute of Neurology, University Hospital Nijmegen, Nijmegen, Netherlands

Correspondence to: C. O. Hanemann, MD, Neurology ZKF, Universität Ulm, Helmholzstrasse 8/1, 89081 Ulm, Germany E-mail: oliver.hanemann{at}medizin.uni-ulm.de

The hereditary demyelinating neuropathy Charcot–Marie–Tooth type 1A is caused by duplication or by point mutations of the PMP22 gene. Histopathological differences in these genotypes suggest distinct disease mechanisms. In the present investigation we demonstrate a pathologically altered cellular distribution of PMP22 in sural nerve biopsies of patients with PMP22 point mutations. In these patients, in contrast to findings in patients with PMP22 duplication, PMP22 partially accumulates in the Schwann cells instead of being inserted in the myelin sheath. These findings may explain the different histopathology and may suggest different mechanisms of pathogenesis in these genotypes.


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