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Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

Nature Genetics volume 11, pages 274–280 (1995)Cite this article

Abstract

Peripheral myelin protein PMP22 has been suggested to have a role in peripheral nerve myelination and cell proliferation. Defects at the PMP22 locus are associated with peripheral neuropathies such as Charcot–Marie–Tooth disease type 1 A. We now demonstrate that mice devoid of Pmp22 are retarded in the onset of myelination and develop abundant sausage–like hypermyelination structures (tomacula) at a young age followed by severe demyelination, axonal loss and functional impairment. Mice carrying one functional copy of Pmp22 are less affected but they also exhibit focal tomacula comparable to the morphological features in hereditary neuropathy with liability to pressure palsies (HNPP). We conclude that Pmp22 is required for the correct development of peripheral nerves, the maintenance of axons and the determination of myelin thickness and stability.

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Authors and Affiliations

  1. Department of Cell Biology, Swiss Federal Institute of Technology, ETH-Hönggerberg, Zürich, CH-8093, Switzerland

    Katrin Adlkofer & Ueli Suter

  2. Department of Neurobiology, Swiss Federal Institute of Technology, ETH-Hönggerberg, Zürich, CH-8093, Switzerland

    Rudolf Martini

  3. Institute of Neuropathology, University Hospital of Zürich, Zürich, CH-8091, Switzerland

    Adriano Aguzzi

  4. Department of Neurology, Julius-Maximilians-University, Josef-Schneider-Strasse 11, Würzburg, D-97080, Germany

    Jürgen Zielasek & Klaus V. Toyka

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  1. Katrin Adlkofer
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Adlkofer, K., Martini, R., Aguzzi, A. et al. Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice. Nat Genet 11, 274–280 (1995). https://doi.org/10.1038/ng1195-274

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