Peripheral neuropathy caused by proteolipid protein gene mutations

James Y. Garbern, Franca Cambi, Richard Lewis, Michael Shy, Anders Sima, George Kraft, J. M. Vallat, E. P. Bosch, M. E. Hodes, Stephen Dlouhy, Wendy Raskind, Thomas Bird, Wendy Macklin, John Kamholz

Research output: Contribution to journalArticle

38 Scopus citations

Abstract

Pelizaeus-Merzbacher disease (PMD) is a dysmyelinating disorder of the central nervous system typically caused by duplications or missense mutations of the proteolipid protein (PLP) gene. Most investigators have found that peripheral nerve function and structure is normal in PMD patients. We have found that null mutations of the PLP gene cause demyelinating peripheral neuropathy, whereas duplications and a proline 14 to leucine mutation do not affect nerve function. A family with a nonsense mutation at position 144, which affects only PLP but not the alternatively spliced gene product DM20, has a very mild syndrome, including normal peripheral nerve function. Our findings suggest that DM20 alone is sufficient to maintain normal nerve function and that there may be domains of PLP/DM20 that have a relatively more active role in the peripheral nervous system compared with that in the central nervous system.

Original languageEnglish (US)
Pages (from-to)351-365
Number of pages15
JournalAnnals of the New York Academy of Sciences
Volume883
DOIs
StatePublished - Jan 1 1999

ASJC Scopus subject areas

  • Neuroscience(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • History and Philosophy of Science

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  • Cite this

    Garbern, J. Y., Cambi, F., Lewis, R., Shy, M., Sima, A., Kraft, G., Vallat, J. M., Bosch, E. P., Hodes, M. E., Dlouhy, S., Raskind, W., Bird, T., Macklin, W., & Kamholz, J. (1999). Peripheral neuropathy caused by proteolipid protein gene mutations. Annals of the New York Academy of Sciences, 883, 351-365. https://doi.org/10.1111/j.1749-6632.1999.tb08597.x