{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T03:05:56Z","timestamp":1791083156907,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,6,23]],"date-time":"2011-06-23T00:00:00Z","timestamp":1308787200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2011,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Metachromatic Leukodystrophy (MLD) is a rare disorder leading to demyelination and neurological impairment. A natural history study within the German leukodystrophy network analyzed MRI changes with respect to the clinical course.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>113 MR images of 68 patients (33 late\u2010infantile, 35 juvenile) were studied cross\u2010sectionally and longitudinally. MRI and motor deterioration were assessed using standardized scoring systems.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The temporal and spatial patterns of MR severity scores differed between the late\u2010infantile and juvenile form. Although early (involving central white matter, corpus callosum) and late signs (involving pons, cerebellum, cerebral atrophy) were similar, high MRI scores (mean 18, SD 1.2, p\u2009&lt;\u20090.001) were evident in the juvenile form already at the onset of first symptoms and even in presymptomatic patients. The progression rate of the MRI score was clearly higher and more uniform in the late\u2010infantile (on average 8 per year, p\u2009&lt;\u20090.0001) than in the juvenile patients (on average 0.4 per year, p\u2009&lt;\u20090.08). In late\u2010infantile patients, MRI changes correlated highly with motor deterioration (rho\u2009=\u20090.73, p\u2009&lt;\u20090.001), this was less remarkable in the juvenile form (rho\u2009=\u20090.50, p\u2009&lt;\u20090.01). Severe motor dysfunction was associated with U\u2010fiber involvement and cerebellar changes (p\u2009&lt;\u20090.05).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>MRI showed a typical spatial pattern, which evolved gradually and uniformly during disease progression in late\u2010infantile MLD. In juvenile MLD MRI changes were already observed at disease onset and temporal patterns were more variable. As therapeutic options for MLD are evolving, these findings are not only important for patient counseling but also for the evaluation of therapeutic interventions.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s10545-011-9361-1","type":"journal-article","created":{"date-parts":[[2011,6,22]],"date-time":"2011-06-22T03:36:23Z","timestamp":1308713783000},"page":"1095-1102","source":"Crossref","is-referenced-by-count":77,"title":["Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course"],"prefix":"10.1002","volume":"34","author":[{"given":"Samuel","family":"Groeschel","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology &amp; Developmental Medicine and Experimental Pediatric Neuroimaging University Children's Hospital Hoppe\u2010Seyler\u2010Strasse 1 T\u00fcbingen 72076 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Kehrer","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology &amp; Developmental Medicine University Children's Hospital Hoppe\u2010Seyler\u2010Strasse 1 T\u00fcbingen 72076 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinna","family":"Engel","sequence":"additional","affiliation":[{"name":"Center for Pediatric Clinical Studies, Biometry University Children's Hospital T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"\u00ed Dali","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Rigshospitalet Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette","family":"Bley","sequence":"additional","affiliation":[{"name":"Children's Hospital University Medical Center Hamburg\u2010Eppendorf Hamburg\u2010Eppendorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Steinfeld","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Pediatric Neurology University Hospital G\u00f6ttingen G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Grodd","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Psychotherapy University Hospital Aachen Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingeborg","family":"Kr\u00e4geloh\u2010Mann","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology &amp; Developmental Medicine University Children's Hospital Hoppe\u2010Seyler\u2010Strasse 1 T\u00fcbingen 72076 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,6,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01058.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/bmt.2008.275"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.24.3.233"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/NRL.0b013e3181b287c8"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00587829"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A1739"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050672"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2008.00648.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0030-1253412"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2003.tb00225.x"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00697745"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970905)71:4<475::AID-AJMG20>3.0.CO;2-C"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-196007000-00001"},{"key":"e_1_2_7_15_1","doi-asserted-by":"crossref","unstructured":"KehrerC BlumenstockG GieselmannV andKr\u00e4geloh\u2010MannI(2011a)The natural course of gross motor deterioration in metachromatic leukodystrophy.Dev Med Child Neurol. accepted for publication.","DOI":"10.1111\/j.1469-8749.2011.04028.x"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2010.03821.x"},{"key":"e_1_2_7_17_1","first-page":"733","article-title":"MR of childhood metachromatic leukodystrophy","volume":"18","author":"Kim TS","year":"1997","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_7_18_1","first-page":"1761","article-title":"Adrenoleukodystrophy: a scoring method for brain MR observations","volume":"15","author":"Loes DJ","year":"1994","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(07)70177-1"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004399900075"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/73.3.291"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000343049.00540.c8"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1037\/0033-2909.86.2.420"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/3-540-27660-2"},{"key":"e_1_2_7_25_1","first-page":"442","article-title":"Histopathologic correlates of radial stripes on MR images in lysosomal storage disorders","volume":"26","author":"Voorn JP","year":"2005","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_7_26_1","first-page":"3695","volume-title":"The metabolic and molecular bases of inherited disease","author":"Figura K","year":"2001"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(99)00093-4"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-011-9361-1","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-011-9361-1","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-011-9361-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T17:09:20Z","timestamp":1694797760000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-011-9361-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,6,23]]},"references-count":26,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2011,10]]}},"alternative-id":["10.1007\/s10545-011-9361-1"],"URL":"https:\/\/doi.org\/10.1007\/s10545-011-9361-1","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,6,23]]}}}