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

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
A MazzeoG Vita

Abstract

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. To describe clinical and electrophysiological data of an Italian family carrying a novel mutation in the Cx32 gene. 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. 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. 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.

References

Jul 30, 2005·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Jan KassubekAnne-Dorte Sperfeld
Mar 14, 2007·Neurology·M E ShyA F Hahn

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Citations

Jan 3, 2013·Journal of the Peripheral Nervous System : JPNS·Claudia StancanelliAnna Mazzeo
Sep 20, 2015·Journal of Child Neurology·Ying Wang, Fei Yin
Aug 15, 2009·Current Opinion in Neurology·Davide PareysonEttore Salsano
Apr 30, 2016·Journal of Neurology·Xavier AyrignacPierre Labauge
Jan 7, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Luca GentileAnna Mazzeo
Dec 29, 2020·Neuroscience Letters·Kathryn R MossAhmet Höke

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