{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T02:20:01Z","timestamp":1769739601259,"version":"3.49.0"},"reference-count":28,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2021,10,26]],"date-time":"2021-10-26T00:00:00Z","timestamp":1635206400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003710","name":"Korea Health Industry Development Institute","doi-asserted-by":"publisher","award":["HI14C1989"],"award-info":[{"award-number":["HI14C1989"]}],"id":[{"id":"10.13039\/501100003710","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2019M3C1B8090803 and 2020R1A2C2013216"],"award-info":[{"award-number":["2019M3C1B8090803 and 2020R1A2C2013216"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2020M3H4A1A03084600 and 2021R1A4A2001389"],"award-info":[{"award-number":["2020M3H4A1A03084600 and 2021R1A4A2001389"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Ministry of Health and Welfare","award":["HI14C3484 and HI20C0039"],"award-info":[{"award-number":["HI14C3484 and HI20C0039"]}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01NS094388"],"award-info":[{"award-number":["R01NS094388"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Charcot\u2013Marie\u2013Tooth disease (CMT) is a genetically heterogeneous hereditary peripheral neuropathy. Brain volumetry and diffusion tensor imaging (DTI) were performed in 47 controls and 47 CMT patients with PMP22 duplication (n = 10), MFN2 (n = 15), GJB1 (n = 11), or NEFL mutations (n = 11) to investigate for structural changes in the cerebellum. Volume of cerebellar white matter (WM) was significantly reduced in CMT patients with NEFL mutations. Abnormal DTI findings were observed in the superior, middle, and inferior cerebellar peduncles, predominantly in NEFL mutations and partly in GJB1 mutations. Cerebellar ataxia was more prevalent in the NEFL mutation group (72.7%) than the GJB1 mutation group (9.1%) but was not observed in other genotypic subtypes, which indicates that structural cerebellar abnormalities were associated with the presence of cerebellar ataxia. However, NEFL and GJB1 mutations did not affect cerebellar gray matter (GM), and neither cerebellar GM nor WM abnormalities were observed in the PMP22 duplication or MFN2 mutation groups. We found structural evidence of cerebellar WM abnormalities in CMT patients with NEFL and GJB1 mutations and an association between cerebellar WM involvement and cerebellar ataxia in these genetic subtypes, especially in the NEFL subgroup. Therefore, we suggest that neuroimaging, such as MRI volumetry or DTI, for CMT patients could play an important role in detecting abnormalities of cerebellar WM.<\/jats:p>","DOI":"10.3390\/jcm10214945","type":"journal-article","created":{"date-parts":[[2021,10,26]],"date-time":"2021-10-26T23:54:33Z","timestamp":1635292473000},"page":"4945","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Cerebellar White Matter Abnormalities in Charcot\u2013Marie\u2013Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0813-1315","authenticated-orcid":false,"given":"Sungeun","family":"Hwang","sequence":"first","affiliation":[{"name":"Departments of Neurology, Ewha Womans University Mokdong Hospital, Seoul 07985, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang-Hyun","family":"Park","sequence":"additional","affiliation":[{"name":"Departments of Neurology, Ewha Womans University School of Medicine and Ewha Medical Research Institute, Seoul 07985, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina Eun-Young","family":"Kim","sequence":"additional","affiliation":[{"name":"Institute for Human Genomic Study, College of Medicine, Korea University, Ansan 15355, Korea"},{"name":"Department of Psychiatry, University of Iowa, Iowa City, IA 52242, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1401-9258","authenticated-orcid":false,"given":"Hyeon Jin","family":"Kim","sequence":"additional","affiliation":[{"name":"Departments of Neurology, Ewha Womans University School of Medicine and Ewha Medical Research Institute, Seoul 07985, Korea"},{"name":"Department of Neurology, Korea University Ansan Hospital, Ansan 15355, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun Seo","family":"Choi","sequence":"additional","affiliation":[{"name":"Departments of Medical Science, Ewha Womans University School of Medicine and Ewha Medical Research Institute, Seoul 07804, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sol-Ah","family":"Kim","sequence":"additional","affiliation":[{"name":"Departments of Medical Science, Ewha Womans University School of Medicine and Ewha Medical Research Institute, Seoul 07804, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeong Hyun","family":"Yoo","sequence":"additional","affiliation":[{"name":"Department of Radiology, College of Medicine, Ewha Womans University, Seoul 07985, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0363-8432","authenticated-orcid":false,"given":"Ki Wha","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Kongju National University, Kongju 32588, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5459-1772","authenticated-orcid":false,"given":"Byung-Ok","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea"},{"name":"Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University, Seoul 06351, Korea"},{"name":"Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, Seoul 06351, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0610-085X","authenticated-orcid":false,"given":"Hyang Woon","family":"Lee","sequence":"additional","affiliation":[{"name":"Departments of Neurology, Ewha Womans University Mokdong Hospital, Seoul 07985, Korea"},{"name":"Departments of Neurology, Ewha Womans University School of Medicine and Ewha Medical Research Institute, Seoul 07985, Korea"},{"name":"Departments of Medical Science, Ewha Womans University School of Medicine and Ewha Medical Research Institute, Seoul 07804, Korea"},{"name":"Department of Computational Medicine, Ewha Womans University, Seoul 07985, Korea"},{"name":"Department of System Health Science & Engineering, Ewha Womans University, Seoul 03765, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,10,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/S1474-4422(02)00042-X","article-title":"Hereditary motor and sensory neuropathies: A biological perspective","volume":"1","author":"Shy","year":"2002","journal-title":"Lancet 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