Charcot-Marie-Tooth type X: Unusual phenotype of a novel CX32 mutation

A. Mazzeo, R. Di Leo, A. Toscano, M. Muglia, A. Patitucci, C. Messina, G. Vita

Research output: Contribution to journalArticlepeer-review


Background: X-linked Charcot-Marie-Tooth disease (CMTX), caused by mutations in the gene encoding connexin32, is the second most common form of inherited demyelinating neuropathy, next to CMT 1A, and accounts for 10-20% of all hereditary demyelinating neuropathies. Aims of the study: To describe clinical and electrophysiological data of an Italian family carrying a novel mutation in the Cx32 gene. Patients and methods: Clinical, electrophysiological, and genetic findings of three patients carrying the Ser128Leu mutation in the intracellular domain of the Cx32 gene were reported. Brain MRI studies were also performed. Results: In our family the disease was characterized by a moderate-to-severe polyneuropathy affecting similarly males as well females. In the proband the phenotype was quite unusual in terms of late-onset, rapidity of evolution and severity. Abnormal brain MRI in association with CNS symptoms were also observed. Both sons had also clinical evidence of CNS involvement. Conclusions: The Ser128Leu mutation in the Cx-32 gene is a novel substitution, which has not been reported so far. This novel mutation could be added to the group of Cx-32 mutations with CNS phenotypes. The identification of new CMTX causing mutations is a crucial step for carrier detection and pre-symptomatic diagnosis.

Original languageEnglish
Pages (from-to)1140-1142
Number of pages3
JournalEuropean Journal of Neurology
Issue number10
Publication statusPublished - Oct 2008


  • GJB1 (connexin 32)
  • Late-onset neuropathy
  • X-linked Charcot-Marie-Tooth

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


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