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Novel mutation of the P0 extracellular domain causes a Déjérine-Sottas syndrome
  1. Gian Maria Fabrizi,
  2. Tiziana Cavallaro,
  3. Michela Morbin,
  4. Alessandro Simonati,
  5. Federica Taioli,
  6. Nicolo’ Rizzuto
  1. Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona. Italy
  1. Professor Nicolo’ Rizzuto, Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Policlinico Borgo Roma, via delle Menegone 37134, Verona, Italy. Telephone 0039 45 8074285; fax 0039 45 585933; emailrizzuto{at}borgoroma.univr.it

Abstract

A patient is described with a Déjérine-Sottas syndrome caused by a novel heterozygous Cys(98)Tyr mutation in the extracellular domain of the major peripheral myelin protein zero (P0ex). Homotypical interactions between P0ex tetramers of apposed extracellular faces of the Schwann cell membrane play a crucial part in myelin compaction. The amino acid change disrupts a unique disulphide bond that stabilises the immunoglobulin-like structure of P0ex and it is predicted to cause severe de-hypomyelination through dominant negative effects on the wild type protein.

  • Déjérine-Sottas syndrome
  • P0
  • myelin

https://doi.org/10.1136/jnnp.66.3.386

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