Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study
To explore the possible brain structural and functional alterations in congenital fibrosis of extraocular muscles type 1 (CFEOM1) patients using multimodal MRI imaging. T1-weighted, diffusion tensor images and functional MRI data were obtained from 9 KIF21A positive patients and 19 age- and gender-m...
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| Veröffentlicht in: | PloS one 2015-07, Vol.10 (7), p.e0133473-e0133473 |
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| creator | Miao, Wen Man, Fengyuan Wu, Shaoqin Lv, Bin Wang, Zhenchang Xian, Junfang Sabel, Bernhard A He, Huiguang Jiao, Yonghong |
| description | To explore the possible brain structural and functional alterations in congenital fibrosis of extraocular muscles type 1 (CFEOM1) patients using multimodal MRI imaging.
T1-weighted, diffusion tensor images and functional MRI data were obtained from 9 KIF21A positive patients and 19 age- and gender-matched healthy controls. Voxel based morphometry and tract based spatial statistics were applied to the T1-weighted and diffusion tensor images, respectively. Amplitude of low frequency fluctuations and regional homogeneity were used to process the functional MRI data. We then compared these multimodal characteristics between CFEOM1 patients and healthy controls.
Compared with healthy controls, CFEOM1 patients demonstrated increased grey matter volume in bilateral frontal orbital cortex and in the right temporal pole. No diffusion indices changes were detected, indicating unaffected white matter microstructure. In addition, from resting state functional MRI data, trend of amplitude of low-frequency fluctuations increases were noted in the right inferior parietal lobe and in the right frontal cortex, and a trend of ReHo increase (p |
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T1-weighted, diffusion tensor images and functional MRI data were obtained from 9 KIF21A positive patients and 19 age- and gender-matched healthy controls. Voxel based morphometry and tract based spatial statistics were applied to the T1-weighted and diffusion tensor images, respectively. Amplitude of low frequency fluctuations and regional homogeneity were used to process the functional MRI data. We then compared these multimodal characteristics between CFEOM1 patients and healthy controls.
Compared with healthy controls, CFEOM1 patients demonstrated increased grey matter volume in bilateral frontal orbital cortex and in the right temporal pole. No diffusion indices changes were detected, indicating unaffected white matter microstructure. In addition, from resting state functional MRI data, trend of amplitude of low-frequency fluctuations increases were noted in the right inferior parietal lobe and in the right frontal cortex, and a trend of ReHo increase (p<0.001 uncorrected) in the left precentral gyrus, left orbital frontal cortex, temporal pole and cingulate gyrus.
CFEOM1 patients had structural and functional changes in grey matter, but the white matter was unaffected. These alterations in the brain may be due to the abnormality of extraocular muscles and their innervating nerves. Future studies should consider the possible correlations between brain morphological/functional findings and clinical data, especially pertaining to eye movements, to obtain more precise answers about the role of brain area changes and their functional consequence in CFEOM1.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0133473</identifier><identifier>PMID: 26186732</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Abnormalities ; Adult ; Alterations ; Automation ; Brain ; Brain - abnormalities ; Brain - pathology ; Brain Mapping ; Brain research ; Change detection ; Comparative analysis ; Congenital diseases ; Correlation analysis ; Cortex (cingulate) ; Cortex (frontal) ; Cortex (parietal) ; Cortex (temporal) ; Diffusion ; Eye Diseases, Hereditary - diagnosis ; Eye movements ; Female ; Fibrosis ; Fluctuations ; Functional magnetic resonance imaging ; Gene expression ; Genetic disorders ; Gray Matter - abnormalities ; Gray Matter - pathology ; Homogeneity ; Hospitals ; Humans ; Laboratories ; Magnetic resonance imaging ; Magnetic Resonance Imaging - methods ; Male ; Morphometry ; Multimodal Imaging ; Muscles ; Nerves ; Neuroimaging ; NMR ; Nuclear magnetic resonance ; Oculomotor system ; Ophthalmoplegia ; Parietal lobe ; Patients ; Precentral gyrus ; Structure-function relationships ; Studies ; Substantia alba ; Substantia grisea ; Temporal lobe ; Tourette syndrome</subject><ispartof>PloS one, 2015-07, Vol.10 (7), p.e0133473-e0133473</ispartof><rights>COPYRIGHT 2015 Public Library of Science</rights><rights>2015 Miao et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2015 Miao et al 2015 Miao et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-db296b392eafb59f17e9666eafacea8162c15606838115cda82a3a4d907e5ca93</citedby><cites>FETCH-LOGICAL-c692t-db296b392eafb59f17e9666eafacea8162c15606838115cda82a3a4d907e5ca93</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4506083/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4506083/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,864,885,2100,2926,23865,27923,27924,53790,53792,79371,79372</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26186732$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Zuo, Xi-Nian</contributor><creatorcontrib>Miao, Wen</creatorcontrib><creatorcontrib>Man, Fengyuan</creatorcontrib><creatorcontrib>Wu, Shaoqin</creatorcontrib><creatorcontrib>Lv, Bin</creatorcontrib><creatorcontrib>Wang, Zhenchang</creatorcontrib><creatorcontrib>Xian, Junfang</creatorcontrib><creatorcontrib>Sabel, Bernhard A</creatorcontrib><creatorcontrib>He, Huiguang</creatorcontrib><creatorcontrib>Jiao, Yonghong</creatorcontrib><title>Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>To explore the possible brain structural and functional alterations in congenital fibrosis of extraocular muscles type 1 (CFEOM1) patients using multimodal MRI imaging.
T1-weighted, diffusion tensor images and functional MRI data were obtained from 9 KIF21A positive patients and 19 age- and gender-matched healthy controls. Voxel based morphometry and tract based spatial statistics were applied to the T1-weighted and diffusion tensor images, respectively. Amplitude of low frequency fluctuations and regional homogeneity were used to process the functional MRI data. We then compared these multimodal characteristics between CFEOM1 patients and healthy controls.
Compared with healthy controls, CFEOM1 patients demonstrated increased grey matter volume in bilateral frontal orbital cortex and in the right temporal pole. No diffusion indices changes were detected, indicating unaffected white matter microstructure. In addition, from resting state functional MRI data, trend of amplitude of low-frequency fluctuations increases were noted in the right inferior parietal lobe and in the right frontal cortex, and a trend of ReHo increase (p<0.001 uncorrected) in the left precentral gyrus, left orbital frontal cortex, temporal pole and cingulate gyrus.
CFEOM1 patients had structural and functional changes in grey matter, but the white matter was unaffected. These alterations in the brain may be due to the abnormality of extraocular muscles and their innervating nerves. Future studies should consider the possible correlations between brain morphological/functional findings and clinical data, especially pertaining to eye movements, to obtain more precise answers about the role of brain area changes and their functional consequence in CFEOM1.</description><subject>Abnormalities</subject><subject>Adult</subject><subject>Alterations</subject><subject>Automation</subject><subject>Brain</subject><subject>Brain - abnormalities</subject><subject>Brain - pathology</subject><subject>Brain Mapping</subject><subject>Brain research</subject><subject>Change detection</subject><subject>Comparative analysis</subject><subject>Congenital diseases</subject><subject>Correlation analysis</subject><subject>Cortex (cingulate)</subject><subject>Cortex (frontal)</subject><subject>Cortex (parietal)</subject><subject>Cortex (temporal)</subject><subject>Diffusion</subject><subject>Eye Diseases, Hereditary - diagnosis</subject><subject>Eye movements</subject><subject>Female</subject><subject>Fibrosis</subject><subject>Fluctuations</subject><subject>Functional magnetic resonance imaging</subject><subject>Gene expression</subject><subject>Genetic disorders</subject><subject>Gray Matter - abnormalities</subject><subject>Gray Matter - pathology</subject><subject>Homogeneity</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Laboratories</subject><subject>Magnetic resonance imaging</subject><subject>Magnetic Resonance Imaging - methods</subject><subject>Male</subject><subject>Morphometry</subject><subject>Multimodal Imaging</subject><subject>Muscles</subject><subject>Nerves</subject><subject>Neuroimaging</subject><subject>NMR</subject><subject>Nuclear magnetic resonance</subject><subject>Oculomotor system</subject><subject>Ophthalmoplegia</subject><subject>Parietal lobe</subject><subject>Patients</subject><subject>Precentral gyrus</subject><subject>Structure-function relationships</subject><subject>Studies</subject><subject>Substantia alba</subject><subject>Substantia grisea</subject><subject>Temporal lobe</subject><subject>Tourette 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Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study</title><author>Miao, Wen ; Man, Fengyuan ; Wu, Shaoqin ; Lv, Bin ; Wang, Zhenchang ; Xian, Junfang ; Sabel, Bernhard A ; He, Huiguang ; Jiao, Yonghong</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c692t-db296b392eafb59f17e9666eafacea8162c15606838115cda82a3a4d907e5ca93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Abnormalities</topic><topic>Adult</topic><topic>Alterations</topic><topic>Automation</topic><topic>Brain</topic><topic>Brain - abnormalities</topic><topic>Brain - pathology</topic><topic>Brain Mapping</topic><topic>Brain research</topic><topic>Change detection</topic><topic>Comparative analysis</topic><topic>Congenital diseases</topic><topic>Correlation analysis</topic><topic>Cortex (cingulate)</topic><topic>Cortex (frontal)</topic><topic>Cortex (parietal)</topic><topic>Cortex (temporal)</topic><topic>Diffusion</topic><topic>Eye Diseases, Hereditary - diagnosis</topic><topic>Eye movements</topic><topic>Female</topic><topic>Fibrosis</topic><topic>Fluctuations</topic><topic>Functional magnetic resonance imaging</topic><topic>Gene expression</topic><topic>Genetic disorders</topic><topic>Gray Matter - abnormalities</topic><topic>Gray Matter - pathology</topic><topic>Homogeneity</topic><topic>Hospitals</topic><topic>Humans</topic><topic>Laboratories</topic><topic>Magnetic resonance imaging</topic><topic>Magnetic Resonance Imaging - methods</topic><topic>Male</topic><topic>Morphometry</topic><topic>Multimodal Imaging</topic><topic>Muscles</topic><topic>Nerves</topic><topic>Neuroimaging</topic><topic>NMR</topic><topic>Nuclear magnetic resonance</topic><topic>Oculomotor system</topic><topic>Ophthalmoplegia</topic><topic>Parietal lobe</topic><topic>Patients</topic><topic>Precentral gyrus</topic><topic>Structure-function 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One</addtitle><date>2015-07-17</date><risdate>2015</risdate><volume>10</volume><issue>7</issue><spage>e0133473</spage><epage>e0133473</epage><pages>e0133473-e0133473</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>To explore the possible brain structural and functional alterations in congenital fibrosis of extraocular muscles type 1 (CFEOM1) patients using multimodal MRI imaging.
T1-weighted, diffusion tensor images and functional MRI data were obtained from 9 KIF21A positive patients and 19 age- and gender-matched healthy controls. Voxel based morphometry and tract based spatial statistics were applied to the T1-weighted and diffusion tensor images, respectively. Amplitude of low frequency fluctuations and regional homogeneity were used to process the functional MRI data. We then compared these multimodal characteristics between CFEOM1 patients and healthy controls.
Compared with healthy controls, CFEOM1 patients demonstrated increased grey matter volume in bilateral frontal orbital cortex and in the right temporal pole. No diffusion indices changes were detected, indicating unaffected white matter microstructure. In addition, from resting state functional MRI data, trend of amplitude of low-frequency fluctuations increases were noted in the right inferior parietal lobe and in the right frontal cortex, and a trend of ReHo increase (p<0.001 uncorrected) in the left precentral gyrus, left orbital frontal cortex, temporal pole and cingulate gyrus.
CFEOM1 patients had structural and functional changes in grey matter, but the white matter was unaffected. These alterations in the brain may be due to the abnormality of extraocular muscles and their innervating nerves. Future studies should consider the possible correlations between brain morphological/functional findings and clinical data, especially pertaining to eye movements, to obtain more precise answers about the role of brain area changes and their functional consequence in CFEOM1.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>26186732</pmid><doi>10.1371/journal.pone.0133473</doi><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1932-6203 |
| ispartof | PloS one, 2015-07, Vol.10 (7), p.e0133473-e0133473 |
| issn | 1932-6203 1932-6203 |
| language | eng |
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| source | MEDLINE; DOAJ Directory of Open Access Journals; Public Library of Science (PLoS); EZB-FREE-00999 freely available EZB journals; PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | Abnormalities Adult Alterations Automation Brain Brain - abnormalities Brain - pathology Brain Mapping Brain research Change detection Comparative analysis Congenital diseases Correlation analysis Cortex (cingulate) Cortex (frontal) Cortex (parietal) Cortex (temporal) Diffusion Eye Diseases, Hereditary - diagnosis Eye movements Female Fibrosis Fluctuations Functional magnetic resonance imaging Gene expression Genetic disorders Gray Matter - abnormalities Gray Matter - pathology Homogeneity Hospitals Humans Laboratories Magnetic resonance imaging Magnetic Resonance Imaging - methods Male Morphometry Multimodal Imaging Muscles Nerves Neuroimaging NMR Nuclear magnetic resonance Oculomotor system Ophthalmoplegia Parietal lobe Patients Precentral gyrus Structure-function relationships Studies Substantia alba Substantia grisea Temporal lobe Tourette syndrome |
| title | Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-11T23%3A29%3A35IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Brain%20Abnormalities%20in%20Congenital%20Fibrosis%20of%20the%20Extraocular%20Muscles%20Type%201:%20A%20Multimodal%20MRI%20Imaging%20Study&rft.jtitle=PloS%20one&rft.au=Miao,%20Wen&rft.date=2015-07-17&rft.volume=10&rft.issue=7&rft.spage=e0133473&rft.epage=e0133473&rft.pages=e0133473-e0133473&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0133473&rft_dat=%3Cgale_plos_%3EA422136984%3C/gale_plos_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1697016521&rft_id=info:pmid/26186732&rft_galeid=A422136984&rft_doaj_id=oai_doaj_org_article_ce0e6f1e457745bda4aaaacd1ff78e16&rfr_iscdi=true |