Clinical, neurophysiological evaluation and genetic features of axonal Charcot–Marie–Tooth disease in a Chinese family
Charcot–Marie–Tooth disease (CMT) is a group of inherited peripheral neuropathies related to variants in the mitochondrial transfer RNA (mt-tRNAval) gene. Here, we report a Chinese family harboring the m.1661A>G variant in the mt-tRNAval gene. Clinical evaluation, neuroelectrodiagnostic testi...
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| Format: | Article |
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Frontiers Media S.A.
2024-02-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2023.1337065/full |
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| author | Li Cao Li Cao Jie Yang Xiaohuan Zhang Xiaohuan Zhang Xu Wang Xu Wang Zhangyuwei Chen Zhangyuwei Chen Song Tan Jiyun Yang Jiyun Yang |
| author_facet | Li Cao Li Cao Jie Yang Xiaohuan Zhang Xiaohuan Zhang Xu Wang Xu Wang Zhangyuwei Chen Zhangyuwei Chen Song Tan Jiyun Yang Jiyun Yang |
| author_sort | Li Cao |
| collection | DOAJ |
| description | Charcot–Marie–Tooth disease (CMT) is a group of inherited peripheral neuropathies related to variants in the mitochondrial transfer RNA (mt-tRNAval) gene. Here, we report a Chinese family harboring the m.1661A>G variant in the mt-tRNAval 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-tRNAval gene in CMT. |
| first_indexed | 2024-03-08T07:56:35Z |
| format | Article |
| id | doaj.art-3c2ffa1f31c044e2b80788227d484cb7 |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-03-08T07:56:35Z |
| publishDate | 2024-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-3c2ffa1f31c044e2b80788227d484cb72024-02-02T13:38:13ZengFrontiers Media S.A.Frontiers in Neurology1664-22952024-02-011410.3389/fneur.2023.13370651337065Clinical, neurophysiological evaluation and genetic features of axonal Charcot–Marie–Tooth disease in a Chinese familyLi Cao0Li Cao1Jie Yang2Xiaohuan Zhang3Xiaohuan Zhang4Xu Wang5Xu Wang6Zhangyuwei Chen7Zhangyuwei Chen8Song Tan9Jiyun Yang10Jiyun Yang11Sichuan 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, ChinaResearch Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences, Chengdu, ChinaDepartment of Neurology, Sichuan Provincial People’s Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, ChinaSichuan 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, ChinaResearch Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences, Chengdu, ChinaSichuan 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, ChinaResearch Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences, Chengdu, ChinaSichuan 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, ChinaResearch Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences, Chengdu, ChinaDepartment of Neurology, Sichuan Provincial People’s Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, ChinaSichuan 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, ChinaResearch Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences, Chengdu, ChinaCharcot–Marie–Tooth disease (CMT) is a group of inherited peripheral neuropathies related to variants in the mitochondrial transfer RNA (mt-tRNAval) gene. Here, we report a Chinese family harboring the m.1661A>G variant in the mt-tRNAval 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-tRNAval gene in CMT.https://www.frontiersin.org/articles/10.3389/fneur.2023.1337065/fullCharcot–Marie–Tooth disease (CMT)the mitochondrial transfer RNA (mt-tRNAval) genethe m.1661A>G variantneuroelectrodiagnostic testingperipheral neuropathies |
| spellingShingle | Li Cao Li Cao Jie Yang Xiaohuan Zhang Xiaohuan Zhang Xu Wang Xu Wang Zhangyuwei Chen Zhangyuwei Chen Song Tan Jiyun Yang Jiyun Yang Clinical, neurophysiological evaluation and genetic features of axonal Charcot–Marie–Tooth disease in a Chinese family Frontiers in Neurology Charcot–Marie–Tooth disease (CMT) the mitochondrial transfer RNA (mt-tRNAval) gene the m.1661A>G variant neuroelectrodiagnostic testing peripheral neuropathies |
| title | Clinical, neurophysiological evaluation and genetic features of axonal Charcot–Marie–Tooth disease in a Chinese family |
| title_full | Clinical, neurophysiological evaluation and genetic features of axonal Charcot–Marie–Tooth disease in a Chinese family |
| title_fullStr | Clinical, neurophysiological evaluation and genetic features of axonal Charcot–Marie–Tooth disease in a Chinese family |
| title_full_unstemmed | Clinical, neurophysiological evaluation and genetic features of axonal Charcot–Marie–Tooth disease in a Chinese family |
| title_short | Clinical, neurophysiological evaluation and genetic features of axonal Charcot–Marie–Tooth disease in a Chinese family |
| title_sort | clinical neurophysiological evaluation and genetic features of axonal charcot marie tooth disease in a chinese family |
| topic | Charcot–Marie–Tooth disease (CMT) the mitochondrial transfer RNA (mt-tRNAval) gene the m.1661A>G variant neuroelectrodiagnostic testing peripheral neuropathies |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2023.1337065/full |
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