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 (<...

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Autores principales:	Sungeun Hwang, Chang-Hyun Park, Regina Eun-Young Kim, Hyeon Jin Kim, Yun Seo Choi, Sol-Ah Kim, Jeong Hyun Yoo, Ki Wha Chung, Byung-Ok Choi, Hyang Woon Lee
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	Charcot–Marie–Tooth disease (CMT) volumetry diffusion tensor imaging (DTI) white matter cerebellum ataxia Medicine R
Acceso en línea:	https://doaj.org/article/a42d27b0678f421191073637cdb6da23
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spelling	oai:doaj.org-article:a42d27b0678f421191073637cdb6da232021-11-11T17:34:53ZCerebellar White Matter Abnormalities in Charcot–Marie–Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis10.3390/jcm102149452077-0383https://doaj.org/article/a42d27b0678f421191073637cdb6da232021-10-01T00:00:00Zhttps://www.mdpi.com/2077-0383/10/21/4945https://doaj.org/toc/2077-0383Charcot–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 <i>PMP22</i> duplication (<i>n</i> = 10), <i>MFN2</i> (<i>n</i> = 15), <i>GJB1</i> (<i>n</i> = 11), or <i>NEFL</i> mutations (<i>n</i> = 11) to investigate for structural changes in the cerebellum. Volume of cerebellar white matter (WM) was significantly reduced in CMT patients with <i>NEFL</i> mutations. Abnormal DTI findings were observed in the superior, middle, and inferior cerebellar peduncles, predominantly in <i>NEFL</i> mutations and partly in <i>GJB1</i> mutations. Cerebellar ataxia was more prevalent in the <i>NEFL</i> mutation group (72.7%) than the <i>GJB1</i> 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, <i>NEFL</i> and <i>GJB1</i> mutations did not affect cerebellar gray matter (GM), and neither cerebellar GM nor WM abnormalities were observed in the <i>PMP22</i> duplication or <i>MFN2</i> mutation groups. We found structural evidence of cerebellar WM abnormalities in CMT patients with <i>NEFL</i> and <i>GJB1</i> mutations and an association between cerebellar WM involvement and cerebellar ataxia in these genetic subtypes, especially in the <i>NEFL</i> 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.Sungeun HwangChang-Hyun ParkRegina Eun-Young KimHyeon Jin KimYun Seo ChoiSol-Ah KimJeong Hyun YooKi Wha ChungByung-Ok ChoiHyang Woon LeeMDPI AGarticleCharcot–Marie–Tooth disease (CMT)volumetrydiffusion tensor imaging (DTI)white mattercerebellumataxiaMedicineRENJournal of Clinical Medicine, Vol 10, Iss 4945, p 4945 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Charcot–Marie–Tooth disease (CMT) volumetry diffusion tensor imaging (DTI) white matter cerebellum ataxia Medicine R
spellingShingle	Charcot–Marie–Tooth disease (CMT) volumetry diffusion tensor imaging (DTI) white matter cerebellum ataxia Medicine R Sungeun Hwang Chang-Hyun Park Regina Eun-Young Kim Hyeon Jin Kim Yun Seo Choi Sol-Ah Kim Jeong Hyun Yoo Ki Wha Chung Byung-Ok Choi Hyang Woon Lee Cerebellar White Matter Abnormalities in Charcot–Marie–Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis
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 <i>PMP22</i> duplication (<i>n</i> = 10), <i>MFN2</i> (<i>n</i> = 15), <i>GJB1</i> (<i>n</i> = 11), or <i>NEFL</i> mutations (<i>n</i> = 11) to investigate for structural changes in the cerebellum. Volume of cerebellar white matter (WM) was significantly reduced in CMT patients with <i>NEFL</i> mutations. Abnormal DTI findings were observed in the superior, middle, and inferior cerebellar peduncles, predominantly in <i>NEFL</i> mutations and partly in <i>GJB1</i> mutations. Cerebellar ataxia was more prevalent in the <i>NEFL</i> mutation group (72.7%) than the <i>GJB1</i> 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, <i>NEFL</i> and <i>GJB1</i> mutations did not affect cerebellar gray matter (GM), and neither cerebellar GM nor WM abnormalities were observed in the <i>PMP22</i> duplication or <i>MFN2</i> mutation groups. We found structural evidence of cerebellar WM abnormalities in CMT patients with <i>NEFL</i> and <i>GJB1</i> mutations and an association between cerebellar WM involvement and cerebellar ataxia in these genetic subtypes, especially in the <i>NEFL</i> 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.
format	article
author	Sungeun Hwang Chang-Hyun Park Regina Eun-Young Kim Hyeon Jin Kim Yun Seo Choi Sol-Ah Kim Jeong Hyun Yoo Ki Wha Chung Byung-Ok Choi Hyang Woon Lee
author_facet	Sungeun Hwang Chang-Hyun Park Regina Eun-Young Kim Hyeon Jin Kim Yun Seo Choi Sol-Ah Kim Jeong Hyun Yoo Ki Wha Chung Byung-Ok Choi Hyang Woon Lee
author_sort	Sungeun Hwang
title	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_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_sort	cerebellar white matter abnormalities in charcot–marie–tooth disease: a combined volumetry and diffusion tensor imaging analysis
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/a42d27b0678f421191073637cdb6da23
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Cerebellar White Matter Abnormalities in Charcot–Marie–Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis

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