{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T08:12:35Z","timestamp":1785831155907,"version":"3.56.0"},"reference-count":50,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T00:00:00Z","timestamp":1702944000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000009","name":"Foundation for the National Institutes of Health","doi-asserted-by":"publisher","award":["NIH U54NS065768"],"award-info":[{"award-number":["NIH U54NS065768"]}],"id":[{"id":"10.13039\/100000009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["MH CZ\u2010DRO\u2010VFN64165"],"award-info":[{"award-number":["MH CZ\u2010DRO\u2010VFN64165"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004337","name":"Roche","doi-asserted-by":"publisher","award":["NTC03706118"],"award-info":[{"award-number":["NTC03706118"]}],"id":[{"id":"10.13039\/100004337","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cerebellar atrophy is a characteristic sign of late\u2010onset Tay\u2010Sachs disease (LOTS). Other structural neuroimaging abnormalities are inconsistently reported. Our study aimed to perform a detailed whole\u2010brain analysis and quantitatively characterize morphometric changes in LOTS patients. Fourteen patients (8\u2009M\/6F) with LOTS from three centers were included in this retrospective study. For morphometric brain analyses, we used deformation\u2010based morphometry, voxel\u2010based morphometry, surface\u2010based morphometry, and spatially unbiased cerebellar atlas template. The quantitative whole\u2010brain morphometric analysis confirmed the finding of profound pontocerebellar atrophy with most affected cerebellar lobules V and VI in LOTS patients. Additionally, the atrophy of structures mainly involved in motor control, including bilateral ventral and lateral thalamic nuclei, primary motor and sensory cortex, supplementary motor area, and white matter regions containing corticospinal tract, was present. The atrophy of the right amygdala, hippocampus, and regions of occipital, parietal and temporal white matter was also observed in LOTS patients in contrast with controls (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05, FWE corrected). Patients with dysarthria and those initially presenting with ataxia had more severe cerebellar atrophy. Our results show predominant impairment of cerebellar regions responsible for speech and hand motor function in LOTS patients. Widespread morphological changes of motor cortical and subcortical regions and tracts in white matter indicate abnormalities in central motor circuits likely coresponsible for impaired speech and motor function.<\/jats:p>","DOI":"10.1002\/jimd.12700","type":"journal-article","created":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T13:20:03Z","timestamp":1702992003000},"page":"327-339","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late\u2010onset <scp>Tay\u2010Sachs<\/scp> disease"],"prefix":"10.1002","volume":"47","author":[{"given":"Jitka","family":"M\u00e1jovsk\u00e1","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University and General University Hospital Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Igor","family":"Nestra\u0161il","sequence":"additional","affiliation":[{"name":"Division of Clinical Behavioral Neuroscience, Department of Pediatrics, Medical School University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alia","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Advanced Therapies Program, Division of Genetics and Metabolism, Department of Pediatrics, Medical School University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica T.","family":"Bondy","sequence":"additional","affiliation":[{"name":"Division of Clinical Behavioral Neuroscience, Department of Pediatrics, Medical School University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji\u0159\u00ed","family":"Klemp\u00ed\u0159","sequence":"additional","affiliation":[{"name":"Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine Charles University and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Jahnov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University and General University Hospital Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne A.","family":"Schneider","sequence":"additional","affiliation":[{"name":"Department of Neurology LMU University Hospital, LMU Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana","family":"Hor\u00e1kov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine Charles University and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Kr\u00e1sensk\u00fd","sequence":"additional","affiliation":[{"name":"Department of Radiology, First Faculty of Medicine Charles University and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pavel","family":"Je\u0161ina","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University and General University Hospital Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Vaneckova","sequence":"additional","affiliation":[{"name":"Department of Radiology, First Faculty of Medicine Charles University and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R.","family":"Nascene","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology, Medical School University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chester B.","family":"Whitley","sequence":"additional","affiliation":[{"name":"Advanced Therapies Program, Division of Genetics and Metabolism, Department of Pediatrics, Medical School University of Minnesota  Minneapolis Minnesota USA"},{"name":"Gene Therapy and Diagnostic Laboratory, Department of Pediatrics, Medical School University of Minnesota  Minneapolis Minnesota USA"},{"name":"Department of Experimental and Clinical Pharmacology University of Minnesota, College of Pharmacy  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanine R.","family":"Jarnes","sequence":"additional","affiliation":[{"name":"Advanced Therapies Program, Division of Genetics and Metabolism, Department of Pediatrics, Medical School University of Minnesota  Minneapolis Minnesota USA"},{"name":"Department of Experimental and Clinical Pharmacology University of Minnesota, College of Pharmacy  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Magner","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University and General University Hospital Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4877-9642","authenticated-orcid":false,"given":"Petr","family":"Du\u0161ek","sequence":"additional","affiliation":[{"name":"Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine Charles University and General University Hospital in Prague  Prague Czech Republic"},{"name":"Department of Radiology, First Faculty of Medicine Charles University and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,12,19]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21176213"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2021.136195"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol\u20102017\u2010001665"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410170413"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr\u20102016\u2010214634"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468\u20101331.2008.02170.x"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24146"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010021\u201010492\u2010y"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000154300.84107.75"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1192\/bjp.155.3.410"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072\u2010021\u201005757\u20103"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2021.06.008"},{"issue":"8","key":"e_1_2_13_14_1","first-page":"2037","article-title":"MR imaging and proton spectroscopy of neuronal injury in late\u2010onset G M2 gangliosidosis","volume":"26","author":"Inglese M","year":"2005","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.12.432"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1006\/nimg.2001.0771"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2012.09.050"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2006.05.056"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0133402"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0050101"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2010.09.088"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnagi.2014.00264"},{"key":"e_1_2_13_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311\u2010019\u20101008\u2010z"},{"key":"e_1_2_13_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010019\u201009582\u20109"},{"key":"e_1_2_13_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11682\u2010021\u201000511\u2010x"},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2012.05.058"},{"key":"e_1_2_13_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2019.08.011"},{"key":"e_1_2_13_28_1","doi-asserted-by":"publisher","DOI":"10.1006\/nbdi.2002.0511"},{"key":"e_1_2_13_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2003.11.067"},{"key":"e_1_2_13_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.10522"},{"key":"e_1_2_13_31_1","doi-asserted-by":"publisher","DOI":"10.1042\/BST0381436"},{"key":"e_1_2_13_32_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2020.00315"},{"key":"e_1_2_13_33_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.1801473.The"},{"key":"e_1_2_13_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.13096"},{"key":"e_1_2_13_35_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2012.1207"},{"key":"e_1_2_13_36_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0004\u2010282X2009000100024"},{"key":"e_1_2_13_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022\u2010510X(96)00233\u2010X"},{"key":"e_1_2_13_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870090325"},{"key":"e_1_2_13_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010015\u20107729\u20100"},{"key":"e_1_2_13_40_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.7.2413"},{"key":"e_1_2_13_41_1","unstructured":"FernandesaM BoulayB KaplanF.Chronic variant GM2 gangliosidosis splicing defects MRNA quantitation.1997http:\/\/www.karger.ch"},{"key":"e_1_2_13_42_1","doi-asserted-by":"publisher","DOI":"10.5334\/tohm.726"},{"key":"e_1_2_13_43_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000142993.33158.2A"},{"key":"e_1_2_13_44_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/123.10.1985"},{"key":"e_1_2_13_45_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.154302"},{"key":"e_1_2_13_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12194"},{"key":"e_1_2_13_47_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010019\u201009364\u20103"},{"key":"e_1_2_13_48_1","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyg.2021.775308"},{"key":"e_1_2_13_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2009.02.010.MRI\u2010derived"},{"key":"e_1_2_13_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2007.09.066"},{"key":"e_1_2_13_51_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnagi.2021.746982"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12700","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,16]],"date-time":"2024-03-16T06:14:48Z","timestamp":1710569688000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12700"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,19]]},"references-count":50,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1002\/jimd.12700"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12700","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,19]]},"assertion":[{"value":"2023-09-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}