Clinical, neurophysiological evaluation and genetic features of axonal Charcot-Marie-Tooth disease in a Chinese family

Li Cao; Jie Yang; Xiaohuan Zhang; Xu Wang; Zhangyuwei Chen; Song Tan; Jiyun Yang

doi:10.3389/fneur.2023.1337065

Clinical, neurophysiological evaluation and genetic features of axonal Charcot-Marie-Tooth disease in a Chinese family

Front Neurol. 2024 Feb 2:14:1337065. doi: 10.3389/fneur.2023.1337065. eCollection 2023.

Authors

Li Cao^#^{1

2}, Jie Yang^#³, Xiaohuan Zhang^{1

2}, Xu Wang^{1

2}, Zhangyuwei Chen^{1

2}, Song Tan³, Jiyun Yang^{1

2}

Affiliations

¹ Sichuan Provincial Key Laboratory for Human Disease Gene Study, Center of Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
² Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences, Chengdu, China.
³ Department of Neurology, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.

^# Contributed equally.

Abstract

Charcot-Marie-Tooth disease (CMT) is a group of inherited peripheral neuropathies related to variants in the mitochondrial transfer RNA (mt-tRNA^val) gene. Here, we report a Chinese family harboring the m.1661A>G variant in the mt-tRNA^val gene. Clinical evaluation, neuroelectrodiagnostic testing, and nerve biopsy were performed on four affected family members. Weakness, spasms, and pain in the limbs (especially in the lower limbs) were the main complaints of the proband. Physical examination revealed atrophy and weakness in the distal limbs, increased muscle tone, and hyperreflexia in four limbs. Neuroelectrodiagnostic tests and nerve biopsy supported an axonal polyneuropathy. This study furthers the understanding of phenotype diversity caused by variants in the mt-tRNA^val gene in CMT.

Keywords: Charcot–Marie–Tooth disease (CMT); neuroelectrodiagnostic testing; peripheral neuropathies; the m.1661A>G variant; the mitochondrial transfer RNA (mt-tRNAval) gene.

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This work was supported by the Sichuan Province Research Fund for Transfer of Scientific and Technological Achievements (No. 2022JDZH0029, to JnY), the Special Fund for Clinical Research and Translational Medicine from Chinese Academy of Medical Sciences (No. 2022-I2M-C&T-B-117, to JnY).