Title |
CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction
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Published in |
Neurological Sciences, April 2016
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DOI | 10.1007/s10072-016-2537-6 |
Pubmed ID | |
Authors |
Chong Xie, Xiajun Zhou, Desheng Zhu, Wei Liu, Xiaoqing Wang, Hong Yang, Zezhi Li, Yong Hao, Guang-Xian Zhang, Yangtai Guan |
Abstract |
X-linked Charcot-Marie-Tooth disease, type 1 (CMTX1) is one of the most common inherited neurological disorders. Obvious CNS involvement is relatively rare in CMTX1 patients. A 24-year-old male with CMTX1 presented with three transient stroke-like attacks, and was followed up regularly for 6 years with brain MRI and electrophysiological examination. Transient symmetrical high signals on T2 imaging and restricted diffusion were found in bilateral deep white matter. Electrophysiological measurement revealed a sensorimotor peripheral neuropathy with slightly reduced nerve conduction velocities. A novel thymine to cytosine mutation at nucleotide position 445 in the connexin 32 allele of the GJB1 gene was identified. During the 6-year longitudinal study, patient's motor and sensory function did not worsen; radiological abnormalities correlated with episodes of CNS dysfunction and resolved after clinical recovery; electrophysiological records showed no obvious change. Little change in the patient's clinical, radiological and electrophysiological results over the follow-up reflected a slow disease progression. |
X Demographics
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United States | 1 | 100% |
Demographic breakdown
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 33 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 7 | 21% |
Researcher | 5 | 15% |
Student > Ph. D. Student | 5 | 15% |
Other | 4 | 12% |
Student > Doctoral Student | 2 | 6% |
Other | 5 | 15% |
Unknown | 5 | 15% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 12 | 36% |
Neuroscience | 7 | 21% |
Biochemistry, Genetics and Molecular Biology | 5 | 15% |
Nursing and Health Professions | 3 | 9% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 3% |
Other | 0 | 0% |
Unknown | 5 | 15% |