{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T10:06:57Z","timestamp":1788430017757,"version":"build-2803163510"},"reference-count":27,"publisher":"BMJ","issue":"1","funder":[{"name":"Metakids"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Neurol Neurosurg Psychiatry"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>To determine whether proton magnetic resonance spectroscopic imaging is useful in predicting clinical course of patients with metachromatic leukodystrophy (MLD), an inherited white matter disorder treatable with haematopoietic cell transplantation (HCT).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>21 patients with juvenile or adult MLD (12 HCT-treated) were compared with 16 controls in the same age range. Clinical outcome was determined as good, moderate or poor. Metabolites were quantified in white matter, and significance of metabolite concentrations at baseline for outcome prediction was assessed using logistic regression analysis. Evolution of metabolic changes was assessed for patients with follow-up examinations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In this retrospective study, 16 patients with baseline scans were included, 5 with good, 3 with moderate and 8 with poor outcome, and 16 controls. We observed significant group differences for all metabolite concentrations in white matter (p&lt;0.001). Compared with controls, patients had decreased N-acetylaspartate and glutamate, and increased myo-inositol and lactate, most pronounced in patients with poor outcome (post hoc, all p&lt;0.05). Logistic regression showed complete separation of data. Creatine could distinguish poor from moderate and good outcome, the sum of glutamate and glutamine could distinguish good from moderate and poor outcome, and N-acetylaspartate could distinguish all outcome groups. For 13 patients (8 with baseline scans), one or more follow-up examinations were evaluated, revealing stabilisation or even partial normalisation of metabolites in patients with moderate and good outcome, clearly visible in the ratio of choline\/N-acetylaspartate.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In MLD, quantitative spectroscopic imaging at baseline is predictive for outcome and aids in determining eligibility for HCT.<\/jats:p><\/jats:sec>","DOI":"10.1136\/jnnp-2017-316364","type":"journal-article","created":{"date-parts":[[2017,9,10]],"date-time":"2017-09-10T00:10:39Z","timestamp":1505002239000},"page":"105-111","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":33,"title":["Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment"],"prefix":"10.1136","volume":"89","author":[{"given":"Diane F","family":"van Rappard","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Klauser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjan E","family":"Steenweg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaap Jan","family":"Boelens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianna","family":"Bugiani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjo S","family":"van der Knaap","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole I","family":"Wolf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra J W","family":"Pouwels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2017,9,9]]},"reference":[{"key":"2020050722275467000_89.1.105.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2014.10.001"},{"key":"2020050722275467000_89.1.105.2","doi-asserted-by":"publisher","DOI":"10.1007\/s12035-008-8022-3"},{"key":"2020050722275467000_89.1.105.3","doi-asserted-by":"publisher","DOI":"10.1038\/bmt.2008.275"},{"key":"2020050722275467000_89.1.105.4","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0313-y"},{"key":"2020050722275467000_89.1.105.5","doi-asserted-by":"publisher","DOI":"10.1126\/science.1233158"},{"key":"2020050722275467000_89.1.105.6","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A1739"},{"key":"2020050722275467000_89.1.105.7","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-03-708479"},{"key":"2020050722275467000_89.1.105.8","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1001\/jamaneurol.2016.2067","article-title":"Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients","volume":"73","author":"Groeschel","year":"2016","journal-title":"JAMA Neurol"},{"key":"2020050722275467000_89.1.105.9","doi-asserted-by":"publisher","DOI":"10.1148\/radiol.13130531"},{"key":"2020050722275467000_89.1.105.10","doi-asserted-by":"publisher","DOI":"10.1148\/radiol.2412051345"},{"key":"2020050722275467000_89.1.105.11","doi-asserted-by":"publisher","DOI":"10.1007\/BF00869766"},{"key":"2020050722275467000_89.1.105.12","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1001\/jamaneurol.2013.629","article-title":"Improvement of white matter changes on neuroimaging modalities after stem cell transplant in metachromatic leukodystrophy","volume":"70","author":"van Egmond","year":"2013","journal-title":"JAMA Neurol"},{"key":"2020050722275467000_89.1.105.13","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2010.03821.x"},{"key":"2020050722275467000_89.1.105.14","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1212\/WNL.0000000000003000","article-title":"Quantitative MRI in hypomyelinating disorders: Correlation with motor handicap","volume":"87","author":"Steenweg","year":"2016","journal-title":"Neurology"},{"key":"2020050722275467000_89.1.105.15","doi-asserted-by":"publisher","DOI":"10.1002\/mrm.20337"},{"key":"2020050722275467000_89.1.105.16","unstructured":"Pouwels PJW , Steenweg ME , Barkhof F , et al ; Absolute metabolite quantification in human brain using short echo-time CSI and a phased-array headcoil. 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