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      Transient, recurrent, white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report


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          Transient white matter lesions have been rarely reported in X-linked Charcot-Marie-Tooth disease type 1.

          Case presentation

          We describe a 15-year-old boy who presented transient and recurrent weakness of the limbs for 5 days. His mother, his mother’s mother and his mother’s sister presented pes cavus. MRI and electrophysiology were performed in the proband. Gap junction protein beta l gene was analyzed by PCR-sequencing in the proband and his parents. The electrophysiological studies showed a mixed demyelinating and axonal sensorimotor neuropathy. MRI showed white matter lesions in the internal capsule, corpus callosum and periventricular areas, which showed almost complete resolution after two months. T278G mutation in Gap junction protein beta l gene was detected in the proband and his mother.


          This case report highlights that the novel T278G mutation of Gap junction protein beta l maybe could result in X-linked Charcot-Marie-Tooth disease type 1 with predominant leucoencephalopathy. The white matter changes in MRI of X-linked Charcot-Marie-Tooth disease type 1 patient are reversible.

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          Most cited references13

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          Connexin32 is a myelin-related protein in the PNS and CNS.

          We have examined the expression of a gap junction protein, connexin32 (Cx32), in Schwann cells and oligodendrocytes. In peripheral nerve, Cx32 is found in the paranodal myelin loops and Schmidt-Lanterman incisures of myelinating Schwann cells, and the levels of Cx32 protein and mRNA change in parallel with those of other myelin-related genes during development, Wallerian degeneration, and axonal regeneration. In the central nervous system, Cx32 is found in oligodendrocytes and their processes, but not in compact myelin, and the levels of Cx32 protein and mRNA increase during development in parallel with those of the other myelin genes. Thus, Cx32 is expressed as part of the myelinating phenotype of both Schwann cells and oligodendrocytes, indicating that this gap junction protein plays in important role in the biology of myelin-forming cells.
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            Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.

            X-linked Charcot-Marie-Tooth disease (CMTX) is a hereditary demyelinating neuropathy caused by mutations in the connexin 32 (Cx32) gene. Cx32 is widely expressed in brain and peripheral nerve, yet clinical manifestations of CMTX mainly arise from peripheral neuropathy. We have evaluated two male patients with CMTX who on separate occasions developed transient ataxia, dysarthria, and weakness within 3 days of returning from ski trips at altitudes above 8,000 feet. Magnetic resonance imaging studies in both patients showed nonenhancing, confluent, and symmetrical white matter abnormalities that were more pronounced posteriorly and that resolved over several months. Magnetic transfer images in one patient demonstrated increased magnetization transfer ratios distinct from that seen in demyelination or edema. Both patients returned to their normal baseline within 2 to 3 weeks. These cases suggest that CMTX patients are at risk for developing an acute, transient, neurological syndrome when they travel to places at high altitudes and return to sea level. Cx32 mutations may cause central nervous system dysfunction by reducing the number of functioning gap junctions between oligodendrocytes and astrocytes, making both cells more susceptible to abnormalities of intercellular exchange of ions and small molecules in situations of metabolic stress.
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              The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.


                Author and article information

                BMC Neurol
                BMC Neurol
                BMC Neurology
                BioMed Central
                3 August 2014
                : 14
                : 156
                [1 ]Department of Neurology, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, People’s Republic of China
                [2 ]Laboratory for Medical Genetics, Institute of Geriatrics, Beijing Hospital, Ministry of Health, Beijing 100730, People’s Republic of China
                Copyright © 2014 Zhao et al.; licensee BioMed Central Ltd.

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited.

                : 25 August 2013
                : 24 July 2014
                Case Report

                charcot-marie-tooth disease,white matter,gap junction protein beta l,connexins,mutation
                charcot-marie-tooth disease, white matter, gap junction protein beta l, connexins, mutation


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