{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T04:05:51Z","timestamp":1779249951083,"version":"3.51.4"},"reference-count":110,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2018,4,19]],"date-time":"2018-04-19T00:00:00Z","timestamp":1524096000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100010571","name":"R\u00e9seau en Bio-Imagerie du Quebec","doi-asserted-by":"crossref","award":["13.19"],"award-info":[{"award-number":["13.19"]}],"id":[{"id":"10.13039\/100010571","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Brain Mapping"],"published-print":{"date-parts":[[2018,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A new<jats:italic>Q555X<\/jats:italic>mutation on the<jats:italic>SYN1<\/jats:italic>gene was recently found in several members of a family segregating dyslexia, epilepsy, and autism spectrum disorder. To describe the effects of this mutation on cortical gray matter microstructure, we performed a surface\u2010based group study using novel diffusion and quantitative multiparametric imaging on 13<jats:italic>SYN1<jats:sub>Q555X<\/jats:sub><\/jats:italic>mutation carriers and 13 age\u2010 and sex\u2010matched controls. Specifically, diffusion kurtosis imaging (DKI) and neurite orientation and dispersion and density imaging (NODDI) were used to analyze multi\u2010shell diffusion data and obtain parametric maps sensitive to tissue structure, while quantitative metrics sensitive to tissue composition (T1, T2* and relative proton density [PD]) were obtained from a multi\u2010echo variable flip angle FLASH acquisition. Results showed significant microstructural alterations in several regions usually involved in oral and written language as well as dyslexia. The most significant changes in these regions were lowered mean diffusivity and increased fractional anisotropy. This study is, to our knowledge, the first to successfully use diffusion imaging and multiparametric mapping to detect cortical anomalies in a group of subjects with a well\u2010defined genotype linked to language impairments, epilepsy and autism spectrum disorder (ASD).<\/jats:p>","DOI":"10.1002\/hbm.24186","type":"journal-article","created":{"date-parts":[[2018,4,19]],"date-time":"2018-04-19T14:53:28Z","timestamp":1524149608000},"page":"3428-3448","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Effects of<i>SYN1<sub>Q555X<\/sub><\/i>mutation on cortical gray matter microstructure"],"prefix":"10.1002","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0579-5378","authenticated-orcid":false,"given":"Jean\u2010Fran\u00e7ois","family":"Cabana","sequence":"first","affiliation":[{"name":"Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CHUM) Montr\u00e9al Qu\u00e9bec"},{"name":"Universit\u00e9 de Montr\u00e9al"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillaume","family":"Gilbert","sequence":"additional","affiliation":[{"name":"Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CHUM) Montr\u00e9al Qu\u00e9bec"},{"name":"Universit\u00e9 de Montr\u00e9al"},{"name":"Philips Healthcare Canada Markham Qu\u00e9bec"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurent","family":"L\u00e9tourneau\u2010Guillon","sequence":"additional","affiliation":[{"name":"Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CHUM) Montr\u00e9al Qu\u00e9bec"},{"name":"Centre de Recherche du CHUM (CRCHUM) Montr\u00e9al Qu\u00e9bec"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dima","family":"Safi","sequence":"additional","affiliation":[{"name":"Universit\u00e9 du Qu\u00e9bec \u00e0 Trois\u2010Rivi\u00e8res (UQTR), Trois\u2010Rivi\u00e8res Qu\u00e9bec"},{"name":"Groupe de recherche CogNAC (UQTR), Trois\u2010Rivi\u00e8res Qu\u00e9bec"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Rouleau","sequence":"additional","affiliation":[{"name":"Centre de Recherche du CHUM (CRCHUM) Montr\u00e9al Qu\u00e9bec"},{"name":"Universit\u00e9 du Qu\u00e9bec \u00e0 Montr\u00e9al (UQAM), Montr\u00e9al Qu\u00e9bec"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Cossette","sequence":"additional","affiliation":[{"name":"Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CHUM) Montr\u00e9al Qu\u00e9bec"},{"name":"Universit\u00e9 de Montr\u00e9al"},{"name":"Centre de Recherche du CHUM (CRCHUM) Montr\u00e9al Qu\u00e9bec"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dang Khoa","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CHUM) Montr\u00e9al Qu\u00e9bec"},{"name":"Universit\u00e9 de Montr\u00e9al"},{"name":"Centre de Recherche du CHUM (CRCHUM) Montr\u00e9al Qu\u00e9bec"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,4,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1053-8119(03)00336-7"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2015.10.019"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11881-015-0114-y"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bandl.2008.10.001"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0083668"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181e0f80a"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2015.02.029"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl244"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A4185"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1109\/42.750253"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1080\/09658210600624481"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.lindif.2008.10.002"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10226"},{"key":"e_1_2_7_15_1","first-page":"1","article-title":"Neurite orientation dispersion and density imaging color maps to characterize brain diffusion in neurologic disorders","author":"Caverzasi E.","year":"2016","journal-title":"Journal of Neuroimaging"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.acra.2009.02.012"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pneurobio.2010.04.006"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.20.9230"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2013.01.023"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/hbm.23112"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2014.10.026"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1166\/jbn.2014.1895"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmri.21604"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.3758\/BF03210983"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr122"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2013.08.031"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/cercor\/bhg087"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-009-0227-8"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/hbm.21103"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2018.02.017"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn1772"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/nbm.2809"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.013680"},{"issue":"1","key":"e_1_2_7_34_1","first-page":"137","article-title":"Interregional variation of longitudinal relaxation rates in human brain at 3.0 T: Relation to estimated iron and water contents","volume":"44","author":"Gelman N.","year":"2013","journal-title":"NeuroImage"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tics.2011.07.003"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.3795-04.2004"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4361"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2013.04.127"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awx247"},{"key":"e_1_2_7_40_1","first-page":"0","article-title":"Diffusion kurtosis metrics as biomarkers of microstructural development: A comparative study of a group of children and a group of adults","volume":"2015","author":"Grinberg F.","year":"2016","journal-title":"NeuroImage"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2015.10.052"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmri.22397"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2004.07.013"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-090413-025600"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1006\/nimg.2002.1132"},{"key":"e_1_2_7_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/nbm.1518"},{"key":"e_1_2_7_47_1","doi-asserted-by":"publisher","DOI":"10.1109\/TMI.2011.2162099"},{"key":"e_1_2_7_48_1","doi-asserted-by":"publisher","DOI":"10.1002\/mrm.26306"},{"key":"e_1_2_7_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2016.06.002"},{"issue":"2016","key":"e_1_2_7_50_1","doi-asserted-by":"crossref","first-page":"3704","DOI":"10.1002\/hbm.23628","article-title":"Gray matter abnormalities in idiopathic Parkinson's disease: Evaluation by diffusional kurtosis imaging and neurite orientation dispersion and density imaging","volume":"3722","author":"Kamagata K.","year":"2017","journal-title":"Human Brain Mapping"},{"key":"e_1_2_7_51_1","article-title":"Gibbs\u2010ringing artifact removal based on local subvoxel\u2010shifts","author":"Kellner E.","year":"2015","journal-title":"Magnetic Resonance in Medicine"},{"key":"e_1_2_7_52_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cortex.2012.11.015"},{"key":"e_1_2_7_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2014.03.057"},{"key":"e_1_2_7_54_1","doi-asserted-by":"publisher","DOI":"10.1118\/1.4946819"},{"key":"e_1_2_7_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bandl.2012.10.009"},{"key":"e_1_2_7_56_1","doi-asserted-by":"publisher","DOI":"10.1111\/ane.12257"},{"key":"e_1_2_7_57_1","doi-asserted-by":"publisher","DOI":"10.1093\/cercor\/bhs311"},{"key":"e_1_2_7_58_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.neuro.25.112701.142754"},{"key":"e_1_2_7_59_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt071"},{"key":"e_1_2_7_60_1","doi-asserted-by":"publisher","DOI":"10.1002\/nbm.1020"},{"key":"e_1_2_7_61_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2013.06.005"},{"key":"e_1_2_7_62_1","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1416.024"},{"key":"e_1_2_7_63_1","doi-asserted-by":"publisher","DOI":"10.3389\/fninf.2016.00030"},{"key":"e_1_2_7_64_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmri.22003"},{"key":"e_1_2_7_65_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11065-015-9291-z"},{"key":"e_1_2_7_66_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2016.12.005"},{"key":"e_1_2_7_67_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13042"},{"key":"e_1_2_7_68_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt359"},{"key":"e_1_2_7_69_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2010.02.002"},{"key":"e_1_2_7_70_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00429-011-0308-y"},{"key":"e_1_2_7_71_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnhum.2014.00830"},{"key":"e_1_2_7_72_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2015.06.068"},{"key":"e_1_2_7_73_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.arr.2014.01.003"},{"key":"e_1_2_7_74_1","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyg.2015.00191"},{"key":"e_1_2_7_75_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2012.04.062"},{"key":"e_1_2_7_76_1","doi-asserted-by":"publisher","DOI":"10.1054\/plef.2000.0184"},{"key":"e_1_2_7_77_1","doi-asserted-by":"publisher","DOI":"10.1002\/hbm.20752"},{"key":"e_1_2_7_78_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2011.02.040"},{"key":"e_1_2_7_79_1","doi-asserted-by":"publisher","DOI":"10.1093\/cercor\/bhn092"},{"key":"e_1_2_7_80_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cortex.2009.07.008"},{"key":"e_1_2_7_81_1","doi-asserted-by":"publisher","DOI":"10.1155\/2011\/649325"},{"key":"e_1_2_7_82_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6974(93)90012-Y"},{"key":"e_1_2_7_83_1","doi-asserted-by":"crossref","first-page":"98","DOI":"10.3389\/fnana.2015.00098","article-title":"Histological validation of high\u2010resolution DTI in human post mortem tissue","volume":"9","author":"Seehaus A.","year":"2015","journal-title":"Frontiers in Neuroanatomy"},{"key":"e_1_2_7_84_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0954579408000631"},{"issue":"5","key":"e_1_2_7_85_1","first-page":"958","article-title":"Diffusion tensor microscopy indicates the cytoarchitectural basis for diffusion anisotropy in the human hippocampus","volume":"28","author":"Shepherd T. M.","year":"2007","journal-title":"American Journal of Neuroradiology"},{"key":"e_1_2_7_86_1","doi-asserted-by":"publisher","DOI":"10.1002\/hbm.10062"},{"key":"e_1_2_7_87_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2004.07.051"},{"key":"e_1_2_7_88_1","doi-asserted-by":"publisher","DOI":"10.2214\/AJR.13.11365"},{"key":"e_1_2_7_89_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2014.02.026"},{"key":"e_1_2_7_90_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.131.6.1789"},{"key":"e_1_2_7_91_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11881-015-0102-2"},{"key":"e_1_2_7_92_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2008.09.009"},{"key":"e_1_2_7_93_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(02)00160-6"},{"key":"e_1_2_7_94_1","doi-asserted-by":"publisher","DOI":"10.1109\/TMI.2010.2046908"},{"key":"e_1_2_7_95_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2014.04.013"},{"key":"e_1_2_7_96_1","doi-asserted-by":"publisher","DOI":"10.1002\/dys.284"},{"key":"e_1_2_7_97_1","doi-asserted-by":"publisher","DOI":"10.1093\/cercor\/bhr291"},{"key":"e_1_2_7_98_1","article-title":"Gibbs ringing in diffusion MRI","author":"Veraart J.","year":"2015","journal-title":"Magnetic Resonance in Medicine"},{"key":"e_1_2_7_99_1","article-title":"Diffusion MRI noise mapping using random matrix theory","volume":"0","author":"Veraart J.","year":"2015","journal-title":"Magnetic Resonance in Medicine"},{"key":"e_1_2_7_100_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2016.08.016"},{"key":"e_1_2_7_101_1","doi-asserted-by":"publisher","DOI":"10.1002\/mrm.22603"},{"key":"e_1_2_7_102_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2013.05.028"},{"key":"e_1_2_7_103_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bandl.2017.07.004"},{"key":"e_1_2_7_104_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1155174"},{"key":"e_1_2_7_105_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2014.01.060"},{"key":"e_1_2_7_106_1","doi-asserted-by":"publisher","DOI":"10.1002\/hbm.23115"},{"issue":"2","key":"e_1_2_7_107_1","first-page":"279","article-title":"The potential role of novel diffusion imaging techniques in the understanding and treatment of epilepsy","volume":"5","author":"Winston G. P.","year":"2015","journal-title":"Quantitative Imaging in Medicine and Surgery"},{"key":"e_1_2_7_108_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2013.11.004"},{"key":"e_1_2_7_109_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.compmedimag.2013.04.007"},{"key":"e_1_2_7_110_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2012.03.072"},{"key":"e_1_2_7_111_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nicl.2014.12.008"}],"container-title":["Human Brain Mapping"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhbm.24186","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/hbm.24186","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,6]],"date-time":"2024-07-06T04:44:53Z","timestamp":1720241093000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/hbm.24186"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4,19]]},"references-count":110,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2018,8]]}},"alternative-id":["10.1002\/hbm.24186"],"URL":"https:\/\/doi.org\/10.1002\/hbm.24186","archive":["Portico"],"relation":{},"ISSN":["1065-9471","1097-0193"],"issn-type":[{"value":"1065-9471","type":"print"},{"value":"1097-0193","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,4,19]]},"assertion":[{"value":"2017-11-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-04-09","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-04-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}