Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain

Matilde Laurà, Micaela Milani, Michela Morbin, Maurizio Moggio, Michela Ripolone, Stefano Jann, Vidmer Scaioli, Franco Taroni, Davide Pareyson

Research output: Contribution to journalArticle

Abstract

Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves where it plays an essential role in myelin formation and adhesion. MPZ gene mutations are usually responsible for demyelinating neuropathies, namely Charcot-Marie-Tooth (CMT) type 1B, Déjèrine- Sottas neuropathy and congenital hypomyelinating neuropathy. Less frequently, axonal CMT (CMT2) associated with MPZ mutations has been described. We report six patients (one sporadic case and five subjects from two apparently unrelated families) with a late onset, but rapidly progressive, axonal peripheral neuropathy. In all patients, molecular analysis demonstrated a novel heterozygous missense mutation (208C>T) in MPZ exon 2, causing the Pro70Ser substitution in the extracellular domain. The diagnosis of CMT2 associated with MPZ mutations should be considered in both sporadic and familial cases of late onset, progressive polyneuropathy. The mechanism whereby compact myelin protein mutations cause axonal neuropathy remains to be elucidated.

Original languageEnglish
Pages (from-to)1263-1266
Number of pages4
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume78
Issue number11
DOIs
Publication statusPublished - Nov 2007

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ASJC Scopus subject areas

  • Medicine(all)
  • Psychiatry and Mental health
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology

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