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

X-linked Charcot-Marie-Tooth disease (CMTX), caused by mutationsin the gene encoding connexin32, is the second most common form of inheriteddemyelinating neuropathy, next to CMT 1A, and accounts for 10–20% of all hered-itary demyelinating neuropathies. Aims of the study: To describe clinical and elec-trophysiological data of an Italian family carrying a novel mutation in the Cx32 gene.Patients and methods: Clinical, electrophysiological, and genetic findings of threepatients carrying the Ser128Leu mutation in the intracellular domain of the Cx32 genewere reported. Brain MRI studies were also performed. Results: In our family thedisease was characterized by a moderate-to-severe polyneuropathy affecting similarlymales as well females. In the proband the phenotype was quite unusual in terms oflate-onset, rapidity of evolution and severity. Abnormal brain MRI in association withCNS symptoms were also observed. Both sons had also clinical evidence of CNSinvolvement. Conclusions: The Ser128Leu mutation in the Cx-32 gene is a novelsubstitution, which has not been reported so far. This novel mutation could be addedto the group of Cx-32 mutations with CNS phenotypes. The identification of newCMTX causing mutations is a crucial step for carrier detection and pre-symptomaticdiagnosis