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Cerebellar White Matter Abnormalities in Charcot-Marie-Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis
- Title
- Cerebellar White Matter Abnormalities in Charcot-Marie-Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis
- Authors
- Hwang, Sungeun; Park, Chang-Hyun; Kim, Regina Eun-Young; Kim, Hyeon Jin; Choi, Yun Seo; Kim, Sol-Ah; Yoo, Jeong Hyun; Chung, Ki Wha; Choi, Byung-Ok; Lee, Hyang Woon
- Ewha Authors
- 유정현; 이향운; 박창현; 김현진
- SCOPUS Author ID
- 유정현; 이향운; 박창현; 김현진
- Issue Date
- 2021
- Journal Title
- JOURNAL OF CLINICAL MEDICINE
- ISSN
- 2077-0383
- Citation
- JOURNAL OF CLINICAL MEDICINE vol. 10, no. 21
- Keywords
- Charcot-Marie-Tooth disease (CMT); volumetry; diffusion tensor imaging (DTI); white matter; cerebellum; ataxia
- Publisher
- MDPI
- Indexed
- SCIE; SCOPUS
- Document Type
- Article
- Abstract
- 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.
- DOI
- 10.3390/jcm10214945
- Appears in Collections:
- 의과대학 > 의학과 > Journal papers
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