caa a22 4500 445810653 CHVBK 20180317145210.0 cr unu---uuuuu 170323e20110201xx s 000 0 eng 10.1007/s00415-010-5752-8 doi (NATIONALLICENCE)springer-10.1007/s00415-010-5752-8 A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease [Elektronische Daten] [Hideya Sakaguchi, Satoshi Yamashita, Akiko Miura, Tomoo Hirahara, En Kimura, Yasushi Maeda, Tadashi Terasaki, Teruyuki Hirano, Makoto Uchino] X-linked Charcot-Marie-Tooth disease (CMT1X) is the second most common variant of CMT and is caused by mutations in the GJB1 gene encoding connexin32. Some CMT1X patients with GJB1 missense mutations have shown transient central nervous system (CNS) symptoms with abnormal brain magnetic resonance imaging (MRI). Herein we report the first case with a novel GJB1 frameshift mutation that associates with a transient CNS symptom. The patient noticed high-arched feet and limited ankle dorsiflexion in early childhood; he transiently developed numbness and paresis of left face and arm, and dysphagia, with abnormal brain MRI. Although the CNS symptoms recovered within several hours without treatment, intravenous immunoglobulin (IVIg) therapy ameliorated progressing symptoms such as those of toe extensor muscles. His mother had been diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP), and repetitive IVIg treatments had relieved the symptoms. Therefore, inflammation might be involved in the pathophysiology of CMT1X with the GJB1 mutation, while molecular analysis revealed that the mutant GJB1 was more rapidly degraded by the proteasome pathway known as endoplasmic reticulum (ER)-associated degradation. Springer-Verlag, 2010 X-linked Charcot-Marie-Tooth disease (CMT1X) nationallicence GJB1 nationallicence Connexin32 nationallicence Transient central nervous system symptoms nationallicence Intravenous immunoglobulin (IVIg) treatment nationallicence Sakaguchi Hideya Department of Neurology, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, 860-8556, Kumamoto, Japan aut Yamashita Satoshi Department of Neurology, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, 860-8556, Kumamoto, Japan aut Miura Akiko Department of Neurology, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, 860-8556, Kumamoto, Japan aut Hirahara Tomoo Department of Neurology, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, 860-8556, Kumamoto, Japan aut Kimura En Department of Neurology, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, 860-8556, Kumamoto, Japan aut Maeda Yasushi Department of Neurology, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, 860-8556, Kumamoto, Japan aut Terasaki Tadashi Department of Neurology, Japanese Red Cross Kumamoto Hospital, 2-1-1 Nagamine-minami, 861-8520, Kumamoto, Japan aut Hirano Teruyuki Department of Neurology, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, 860-8556, Kumamoto, Japan aut Uchino Makoto Department of Neurology, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, 860-8556, Kumamoto, Japan aut Journal of Neurology Springer-Verlag 258/2(2011-02-01), 284-290 0340-5354 258:2<284 2011 258 415 https://doi.org/10.1007/s00415-010-5752-8 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00415-010-5752-8 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Sakaguchi Hideya Department of Neurology, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, 860-8556, Kumamoto, Japan aut NATIONALLICENCE 700 1- Yamashita Satoshi Department of Neurology, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, 860-8556, Kumamoto, Japan aut NATIONALLICENCE 700 1- Miura Akiko Department of Neurology, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, 860-8556, Kumamoto, Japan aut NATIONALLICENCE 700 1- Hirahara Tomoo Department of Neurology, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, 860-8556, Kumamoto, Japan aut NATIONALLICENCE 700 1- Kimura En Department of Neurology, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, 860-8556, Kumamoto, Japan aut NATIONALLICENCE 700 1- Maeda Yasushi Department of Neurology, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, 860-8556, Kumamoto, Japan aut NATIONALLICENCE 700 1- Terasaki Tadashi Department of Neurology, Japanese Red Cross Kumamoto Hospital, 2-1-1 Nagamine-minami, 861-8520, Kumamoto, Japan aut NATIONALLICENCE 700 1- Hirano Teruyuki Department of Neurology, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, 860-8556, Kumamoto, Japan aut NATIONALLICENCE 700 1- Uchino Makoto Department of Neurology, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, 860-8556, Kumamoto, Japan aut NATIONALLICENCE 773 0- Journal of Neurology Springer-Verlag 258/2(2011-02-01), 284-290 0340-5354 258:2<284 2011 258 415 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer