Cerebellar White Matter Abnormalities in Charcot-Marie-Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis
- 주제(키워드) Charcot-Marie-Tooth disease (CMT) , volumetry , diffusion tensor imaging (DTI) , white matter , cerebellum , ataxia
- 주제(기타) Medicine, General & Internal
- 설명문(일반) [Hwang, Sungeun; Lee, Hyang Woon] Ewha Womans Univ, Dept Neurol, Mokdong Hosp, Seoul 07985, South Korea; [Park, Chang-Hyun; Kim, Hyeon Jin; Lee, Hyang Woon] Ewha Womans Univ, Dept Neurol, Sch Med, Seoul 07985, South Korea; [Park, Chang-Hyun; Kim, Hyeon Jin; Choi, Yun Seo; Kim, Sol-Ah; Lee, Hyang Woon] Ewha Med Res Inst, Seoul 07985, South Korea; [Kim, Regina Eun-Young] Korea Univ, Coll Med, Inst Human Genom Study, Ansan 15355, South Korea; [Kim, Regina Eun-Young] Univ Iowa, Dept Psychiat, Iowa City, IA 52242 USA; [Kim, Hyeon Jin] Korea Univ, Dept Neurol, Ansan Hosp, Ansan 15355, South Korea; [Choi, Yun Seo; Kim, Sol-Ah; Lee, Hyang Woon] Ewha Womans Univ, Dept Med Sci, Sch Med, Seoul 07804, South Korea; [Yoo, Jeong Hyun] Ewha Womans Univ, Coll Med, Dept Radiol, Seoul 07985, South Korea; [Chung, Ki Wha] Kongju Natl Univ, Dept Biol Sci, Kong Ju 32588, South Korea; [Choi, Byung-Ok] Sungkyunkwan Univ, Samsung Med Ctr, Dept Neurol, Sch Med, Seoul 06351, South Korea; [Choi, Byung-Ok] Sungkyunkwan Univ, Samsung Adv Inst Hlth Sci & Technol, Dept Hlth Sci & Technol, Seoul 06351, South Korea; [Choi, Byung-Ok] Samsung Med Ctr, Stem Cell & Regenerat Med Inst, Seoul 06351, South Korea; [Lee, Hyang Woon] Ewha Womans Univ, Dept Computat Med, Seoul 07985, South Korea; [Lee, Hyang Woon] Ewha Womans Univ, Dept Syst Hlth Sci & Engn, Seoul 03765, South Korea
- 등재 SCIE, SCOPUS
- OA유형 gold, Green Published
- 발행기관 MDPI
- 발행년도 2021
- 총서유형 Journal
- URI http://www.dcollection.net/handler/ewha/000000183755
- 본문언어 영어
- Published As http://dx.doi.org/10.3390/jcm10214945
- PubMed https://pubmed.ncbi.nlm.nih.gov/34768465
초록/요약
Charcot-Marie-Tooth 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.
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