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Cerebellar White Matter Abnormalities in Charcot–Marie–Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis

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 investi...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8584387/
https://www.ncbi.nlm.nih.gov/pubmed/34768465
http://dx.doi.org/10.3390/jcm10214945
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author 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
author_facet 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
author_sort Hwang, Sungeun
collection PubMed
description 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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spelling pubmed-85843872021-11-12 Cerebellar White Matter Abnormalities in Charcot–Marie–Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis 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 J Clin Med Article 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. MDPI 2021-10-26 /pmc/articles/PMC8584387/ /pubmed/34768465 http://dx.doi.org/10.3390/jcm10214945 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
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
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
title_full Cerebellar White Matter Abnormalities in Charcot–Marie–Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis
title_fullStr Cerebellar White Matter Abnormalities in Charcot–Marie–Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis
title_full_unstemmed Cerebellar White Matter Abnormalities in Charcot–Marie–Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis
title_short Cerebellar White Matter Abnormalities in Charcot–Marie–Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis
title_sort cerebellar white matter abnormalities in charcot–marie–tooth disease: a combined volumetry and diffusion tensor imaging analysis
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8584387/
https://www.ncbi.nlm.nih.gov/pubmed/34768465
http://dx.doi.org/10.3390/jcm10214945
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