{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T01:55:25Z","timestamp":1792461325442,"version":"4.5.0"},"reference-count":40,"publisher":"Georg Thieme Verlag KG","issue":"04","license":[{"start":{"date-parts":[[2023,4,13]],"date-time":"2023-04-13T00:00:00Z","timestamp":1681344000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"Takeda Pharma AG","award":["IIR-DEU-002540"],"award-info":[{"award-number":["IIR-DEU-002540"]}]},{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"crossref","award":["GR 4688\/2\u20131"],"award-info":[{"award-number":["GR 4688\/2\u20131"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Background\u2003Metachromatic leukodystrophy (MLD) is a lysosomal enzyme deficiency disorder leading to progressive demyelination and, consecutively, to cognitive and motor decline. Brain magnetic resonance imaging (MRI) can detect affected white matter as T2 hyperintense areas but cannot quantify the gradual microstructural process of demyelination more accurately. Our study aimed to investigate the value of routine MR diffusion tensor imaging in assessing disease progression.<\/jats:p><jats:p>\n          Methods\u2003MR diffusion parameters (apparent diffusion coefficient [ADC] and fractional anisotropy [FA]) were in the frontal white matter, central region (CR), and posterior limb of the internal capsule in 111 MR datasets from a natural history study of 83 patients (age: 0.5\u201339.9 years; 35 late-infantile, 45 juvenile, 3 adult, with clinical diffusion sequences of different scanner manufacturers) as well as 120 controls. Results were correlated with clinical parameters reflecting motor and cognitive function.<\/jats:p><jats:p>\n          Results\u2003ADC values increase and FA values decrease depending on disease stage\/severity. They show region-specific correlations with clinical parameters of motor and cognitive symptoms, respectively. Higher ADC levels in CR at diagnosis predicted a disease course with more rapid motor deterioration in juvenile MLD patients. In highly organized tissues such as the corticospinal tract, in particular, diffusion MR parameters were highly sensitive to MLD-associated changes and did not correlate with the visual quantification of T2 hyperintensities.<\/jats:p><jats:p>\n          Conclusion\u2003Our results show that diffusion MRI can deliver valuable, robust, clinically meaningful, and easily obtainable\/accessible\/available parameters in the assessment of prognosis and progression of MLD. Therefore, it provides additional quantifiable information to established methods such as T2 hyperintensity.<\/jats:p>","DOI":"10.1055\/a-2073-4178","type":"journal-article","created":{"date-parts":[[2023,4,13]],"date-time":"2023-04-13T23:19:15Z","timestamp":1681427955000},"page":"244-252","source":"Crossref","is-referenced-by-count":8,"title":["Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy"],"prefix":"10.1055","volume":"54","author":[{"given":"Lucas Bastian","family":"Amedick","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology and Developmental Medicine, University of Tuebingen, Tuebingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0678-6417","authenticated-orcid":false,"given":"Pascal","family":"Martin","sequence":"additional","affiliation":[{"name":"Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University Hospitals Tubingen, Tubingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Beschle","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology and Developmental Medicine, University Hospital T\u00fcbingen, Tuebingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Str\u00f6lin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology and Developmental Medicine, University of Tuebingen, Tuebingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marko","family":"Wilke","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Children's Hospital, T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1721-0728","authenticated-orcid":false,"given":"Nicole","family":"Wolf","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Amsterdam UMC Locatie VUmc, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Pouwels","sequence":"additional","affiliation":[{"name":"Department of Radiology and Nuclear Medicine, Amsterdam UMC Locatie VUmc, Amsterdam, Noord-Holland, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gisela","family":"Hagberg","sequence":"additional","affiliation":[{"name":"Max-Planck-Institut f\u00fcr Biologische Kybernetik, Tubingen, Baden-W\u00fcrttemberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uwe","family":"Klose","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Neuroradiology, Radiological Clinic, University of T\u00fcbingen, T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Naegele","sequence":"additional","affiliation":[{"name":"Department f\u00fcr Diagnostische und Interventionelle Neuroradiologie, Universit\u00e4tsklinikum T\u00fcbingen, Tubingen, Baden-W\u00fcrttemberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingeborg","family":"Kraegeloh-Mann","sequence":"additional","affiliation":[{"name":"Kinderklinik - University T\u00fcbingen, T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Groeschel","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology and Developmental Medicine, University of Tuebingen, Tuebingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2023,5,10]]},"reference":[{"key":"ref1","volume-title":"Metachromatic leukodystrophy","author":"V Gieselmann","year":"2014"},{"issue":"02","key":"ref2","doi-asserted-by":"crossref","first-page":"e255","DOI":"10.1212\/WNL.0000000000011047","article-title":"Association of age at onset and first symptoms with disease progression in patients with metachromatic leukodystrophy","volume":"96","author":"C Kehrer","year":"2021","journal-title":"Neurology"},{"issue":"05","key":"ref3","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1007\/s10545-011-9361-1","article-title":"Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course","volume":"34","author":"S Groeschel","year":"2011","journal-title":"J Inherit Metab Dis"},{"issue":"16","key":"ref4","doi-asserted-by":"crossref","first-page":"1662","DOI":"10.1212\/WNL.0b013e31826e9ad2","article-title":"Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy","volume":"79","author":"S Groeschel","year":"2012","journal-title":"Neurology"},{"issue":"06","key":"ref5","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1002\/acn3.420","article-title":"Demyelination load as predictor for disease progression in juvenile metachromatic leukodystrophy","volume":"4","author":"M 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