{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T17:31:37Z","timestamp":1790443897092,"version":"4.1.0"},"reference-count":33,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T00:00:00Z","timestamp":1761436800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T00:00:00Z","timestamp":1761436800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003246","name":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["016.196.310"],"award-info":[{"award-number":["016.196.310"]}],"id":[{"id":"10.13039\/501100003246","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":[[2025,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    X\u2010linked adrenoleukodystrophy (X\u2010ALD) is caused by\n                    <jats:italic>ABCD1<\/jats:italic>\n                    pathogenic variants, leading to accumulation of very long\u2010chain fatty acids (VLCFAs). Phenotypes include cerebral ALD (CALD) and adrenomyeloneuropathy (AMN). We assessed if quantitative MRI (qMRI) parameters from an automated tool (BrainQuant) could differentiate CALD from non\u2010CALD and reflects myelopathy severity. Adult males from a prospective study (2015\u20132024) underwent annual neurological exams and brain MRI. Exclusion criteria were: fewer than two MRIs, non\u2010ALD lesions, or prior transplantation. BrainQuant processed diffusion tensor imaging (DTI) to yield global metrics: fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD). Patients were stratified by Loes score (0 vs. &gt;\u20090) and expanded disability status scale (EDSS \u2264\u20092 vs. &gt;\u20092). Longitudinal changes were modeled. Correlations with EDSS, severity score for progressive myelopathy (SSPROM), and 6\u2010min walk test (6\u2010MWT) were analyzed. The cohort included 62 patients (median age 36.5); 15 had CALD. Global DTI metrics did not differ significantly between CALD and non\u2010CALD. A trend for higher radial diffusivity (RD) in the splenium (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.037) was seen, but results were not significant after Bonferroni correction for multiple comparisons (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.748). Patients with EDSS &gt;\u20092 showed significantly worse global DTI values (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.05), correlating with clinical scores (\n                    <jats:italic>r<\/jats:italic>\n                    \u2009=\u20090.40\u20130.69). Longitudinally, RD\u2010global increased significantly (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.001) at similar rates across EDSS groups. BrainQuant qMRI did not distinguish CALD and non\u2010CALD but effectively tracked myelopathy. Radial diffusivity (RD)\u2010global is a promising biomarker for monitoring X\u2010ALD progression.\n                  <\/jats:p>","DOI":"10.1002\/jimd.70108","type":"journal-article","created":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T06:42:16Z","timestamp":1761547336000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["An Automated\n                    <scp>Analysis Tool<\/scp>\n                    for Diffusion Tensor Imaging\u2010Based Quantitative\n                    <scp>MRI<\/scp>\n                    in X\u2010Linked Adrenoleukodystrophy"],"prefix":"10.1002","volume":"48","author":[{"given":"Eda G.","family":"Kabak","sequence":"first","affiliation":[{"name":"Department of Neurology and Pediatric Neurology, Emma Children's Hospital, Amsterdam Leukodystrophy Center Amsterdam University Medical Center  Amsterdam AZ the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fenna","family":"van Dodewaard","sequence":"additional","affiliation":[{"name":"Faculty of Medicine University of Amsterdam, Amsterdam University Medical Center  Amsterdam AZ the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan D.","family":"Roosendaal","sequence":"additional","affiliation":[{"name":"Department of Radiology Amsterdam UMC Location University of Amsterdam  Amsterdam AZ the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hemmo A. F.","family":"Yska","sequence":"additional","affiliation":[{"name":"Department of Neurology and Pediatric Neurology, Emma Children's Hospital, Amsterdam Leukodystrophy Center Amsterdam University Medical Center  Amsterdam AZ the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marije M. C.","family":"Voermans","sequence":"additional","affiliation":[{"name":"Department of Neurology and Pediatric Neurology, Emma Children's Hospital, Amsterdam Leukodystrophy Center Amsterdam University Medical Center  Amsterdam AZ the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marine","family":"Bourgeais","sequence":"additional","affiliation":[{"name":"BrainTale SAS  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3438-2479","authenticated-orcid":false,"given":"Vincent","family":"Perlbarg","sequence":"additional","affiliation":[{"name":"BrainTale SAS  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Engelen","sequence":"additional","affiliation":[{"name":"Department of Neurology and Pediatric Neurology, Emma Children's Hospital, Amsterdam Leukodystrophy Center Amsterdam University Medical Center  Amsterdam AZ the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,10,26]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000201374"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2018-01307"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001074"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000007294"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000009626"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1008-6"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-024-03105-0"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy299"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-51"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03256261"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000079050.91337.83"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000209764"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0041-1730937"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12845"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000008572"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12226"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awae169"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12571"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12753"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/jon.13167"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiol.13122720"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00134-021-06583-z"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2015.10.068"},{"key":"e_1_2_9_25_1","article-title":"Dipy, a Library for the Analysis of Diffusion MRI Data","volume":"8","author":"Contributors D.","year":"2014","journal-title":"Frontiers in Neuroinformatics"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2007.12.035"},{"key":"e_1_2_9_27_1","volume-title":"Statistics Without Maths for Psychology","author":"Dancey C. 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