{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T15:27:24Z","timestamp":1781278044951,"version":"3.54.1"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,2,12]],"date-time":"2016-02-12T00:00:00Z","timestamp":1455235200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Delman Fund for Pediatric Neurology Education"},{"name":"Myelin Disorders Bioregistry Project"},{"name":"ZonMw","award":["91211005"],"award-info":[{"award-number":["91211005"]}]},{"DOI":"10.13039\/100006108","name":"NIH National Center for Advancing Translational Sciences","doi-asserted-by":"crossref","award":["UL1TR000075"],"award-info":[{"award-number":["UL1TR000075"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>Succinate dehydrogenase\u2013deficient leukoencephalopathy is a complex II\u2013related mitochondrial disorder for which the clinical phenotype, neuroimaging pattern, and genetic findings have not been comprehensively reviewed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Nineteen individuals with succinate dehydrogenase deficiency\u2013related leukoencephalopathy were reviewed for neuroradiological, clinical, and genetic findings as part of institutional review board\u2013approved studies at Children's National Health System (Washington, DC) and VU University Medical Center (Amsterdam, the Netherlands).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All individuals had signal abnormalities in the central corticospinal tracts and spinal cord where imaging was available. Other typical findings were involvement of the cerebral hemispheric white matter with sparing of the U fibers, the corpus callosum with sparing of the outer blades, the basis pontis, middle cerebellar peduncles, and cerebellar white matter, and elevated succinate on magnetic resonance spectroscopy (MRS). The thalamus was involved in most studies, with a predilection for the anterior nucleus, pulvinar, and geniculate bodies. Clinically, infantile onset neurological regression with partial recovery and subsequent stabilization was typical. All individuals had mutations in <jats:italic>SDHA, SDHB,<\/jats:italic> or <jats:italic>SDHAF1<\/jats:italic>, or proven biochemical defect.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Succinate dehydrogenase deficiency is a rare leukoencephalopathy, for which improved recognition by magnetic resonance imaging (MRI) in combination with advanced sequencing technologies allows noninvasive diagnostic confirmation. The MRI pattern is characterized by cerebral hemispheric white matter abnormalities with sparing of the U fibers, corpus callosum involvement with sparing of the outer blades, and involvement of corticospinal tracts, thalami, and spinal cord. In individuals with infantile regression and this pattern of MRI abnormalities, the differential diagnosis should include succinate dehydrogenase deficiency, in particular if MRS shows elevated succinate. Ann Neurol 2016 ANN NEUROL 2016;79:379\u2013386<\/jats:p><\/jats:sec>","DOI":"10.1002\/ana.24572","type":"journal-article","created":{"date-parts":[[2015,12,9]],"date-time":"2015-12-09T05:36:23Z","timestamp":1449639383000},"page":"379-386","source":"Crossref","is-referenced-by-count":41,"title":["Magnetic resonance imaging spectrum of succinate dehydrogenase\u2013related infantile leukoencephalopathy"],"prefix":"10.1002","volume":"79","author":[{"given":"Guy","family":"Helman","sequence":"first","affiliation":[{"name":"Department of Neurology Children's National Health System Washington DC"},{"name":"Center for Genetic Medicine Research Children's National Health System Washington DC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ljubica","family":"Caldovic","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine Research Children's National Health System Washington DC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew T.","family":"Whitehead","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology Children's National Health System Washington DC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cas","family":"Simons","sequence":"additional","affiliation":[{"name":"Institute for Molecular Bioscience University of Queensland St Lucia Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Knut","family":"Brockmann","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Pediatric Neurology Georg\u2010August University G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Edvardson","sequence":"additional","affiliation":[{"name":"Neuropediatric Unit Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renkui","family":"Bai","sequence":"additional","affiliation":[{"name":"GeneDX Gaithersburg MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Moroni","sequence":"additional","affiliation":[{"name":"Child Neurology Unit Foundation \u201cCarlo Besta\u201d Institute of Neurology\u2013Institute of Hospitalization and Scientific Care Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Michael","family":"Taylor","sequence":"additional","affiliation":[{"name":"Division of Neurology Cincinnati Children's Hospital Cincinnati OH"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keith","family":"Van Haren","sequence":"additional","affiliation":[{"name":"Department of Neurology Lucile Packard Children's Hospital and Stanford University School of Medicine Stanford CA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the SDH Study Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan J.","family":"Taft","sequence":"additional","affiliation":[{"name":"Institute for Molecular Bioscience University of Queensland St Lucia Queensland Australia"},{"name":"Illumina San Diego CA"},{"name":"School of Medicine and Health Sciences George Washington University Washington DC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adeline","family":"Vanderver","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's National Health System Washington DC"},{"name":"Center for Genetic Medicine Research Children's National Health System Washington DC"},{"name":"School of Medicine and Health Sciences George Washington University Washington DC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjo S.","family":"van der Knaap","sequence":"additional","affiliation":[{"name":"Department of Child Neurology VU University Medical Center Amsterdam The Netherlands"},{"name":"Department of Functional Genomics Neuroscience Campus Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,2,12]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000343049.00540.c8"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00588038"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.12.434"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.213.1.r99se01121"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(13)70053-X"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.378"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-69"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101146"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10232"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101932"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.83"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10202"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq206"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.3109\/10409238.2014.990556"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rcl.2013.11.012"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws070"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.08.003"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31828f1914"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2015.01.003"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-014-0412-2"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1329395"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/3-540-27660-2"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35714"}],"updated-by":[{"DOI":"10.1002\/ana.25296","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2018,9,24]],"date-time":"2018-09-24T00:00:00Z","timestamp":1537747200000}}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.24572","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.24572","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T18:40:23Z","timestamp":1695753623000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.24572"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2,12]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,3]]}},"alternative-id":["10.1002\/ana.24572"],"URL":"https:\/\/doi.org\/10.1002\/ana.24572","archive":["Portico"],"relation":{"correction":[{"id-type":"doi","id":"10.1002\/ana.25296","asserted-by":"object"}]},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,2,12]]}}}