CNS Involvement in CMTX1 Caused by a Novel Connexin 32 Mutation: a 6-year Follow-up in Neuroimaging and Nerve Conduction

Overview

Journal Neurol Sci

Specialty Neurology

Date 2016 Apr 22

PMID 27098243

Citations 9

Authors

Chong Xie

Xiajun Zhou

Desheng Zhu

Wei Liu

Xiaoqing Wang

Hong Yang

Zezhi Li

Yong Hao

Guang-Xian Zhang

Yangtai Guan

Affiliations

Soon will be listed here.

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.

Citing Articles

Novel mutations in GJB1 trigger intracellular aggregation and stress granule formation in X-linked Charcot-Marie-Tooth Disease.

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Moss K, Bopp T, Johnson A, Hoke A Neurosci Lett. 2020; 744:135595.

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Systematic review of CMTX1 patients with episodic neurological dysfunction.

Tian D, Zhao Y, Zhu R, Li Q, Liu X Ann Clin Transl Neurol. 2020; 8(1):213-223.

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