{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T14:03:17Z","timestamp":1751637797600},"reference-count":102,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,2,3]],"date-time":"2012-02-03T00:00:00Z","timestamp":1328227200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neuroimaging"],"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>The second most frequently affected organ in mitochondrial disorders (MIDs) is the central nervous system (CNS). One of the most frequent CNS abnormalities on imaging is the affection of the white matter (WMLs) for which the term, leukoencephalopathies in mitochondrial disorders (LEM), is proposed. The morphology of LEM on imaging is quite variable even within the same type of MID and the same family. LEM can be a subtle or prominent feature on imaging and may go along with or without clinical neurologic or neuropsychological manifestations. WMLs are most likely due to the underlying metabolic defect of the respiratory chain or concomitant oxidative stress, resulting in neuronal death and replacement of neurons by glial cells. WMLs in MIDs frequently give rise to misinterpretation, particularly if the mitochondrial defect is not evident in organs other than the CNS or if the presence of WMLs does not induce consideration of a MID as a differential. The diagnosis of a LEM requires the diagnosis of an MID, the detection of WMLs on imaging, and the exclusion of all possible differentials. Because the presence of LEM has an impact on the prognosis of an MID, all MID patients should undergo cerebral imaging even in the absence of clinical CNS manifestations.<\/jats:p>","DOI":"10.1111\/j.1552-6569.2011.00693.x","type":"journal-article","created":{"date-parts":[[2012,2,3]],"date-time":"2012-02-03T17:05:42Z","timestamp":1328288742000},"source":"Crossref","is-referenced-by-count":16,"title":["Leukoencephalopathies in Mitochondrial Disorders: Clinical and MRI Findings"],"prefix":"10.1111","volume":"22","author":[{"given":"Josef","family":"Finsterer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sinda","family":"Zarrouk Mahjoub","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,2,3]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.2006.00671.x"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1012415810881"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2010.09.009"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e328338313a"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.14.3.216"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2008.03.024"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.62.7.1154"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1958.00940080296016"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2010.05.020"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1444.011"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-009-5185-4"},{"key":"e_1_2_7_13_2","first-page":"851","article-title":"Clinical, pathologic and genetic studies on mitochondrial myopathy, encephalopathy, lactic acidosis and stroke\u2010like episodes","volume":"110","author":"Guo Y","year":"1997","journal-title":"Chin Med J (Engl)"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1159\/000117128"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1789.2010.01115.x"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/PL00007403"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1789.2009.01026.x"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004010051023"},{"key":"e_1_2_7_19_2","first-page":"497","article-title":"Mitochondrial myopathy and leukoencephalopathy in twins of different sexes","volume":"147","author":"Pou Serradell A","year":"1991","journal-title":"Rev Neurol (Paris)"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(90)90116-I"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/0387-7604(96)00015-0"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2008.12.003"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-973500"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp259"},{"key":"e_1_2_7_25_2","first-page":"401","article-title":"Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome","volume":"138","author":"Stratilov\u00e1 L","year":"1999","journal-title":"Cas Lek Cesk"},{"key":"e_1_2_7_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2011.01.003"},{"key":"e_1_2_7_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2008.06.021"},{"key":"e_1_2_7_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(96)00311-5"},{"key":"e_1_2_7_29_2","doi-asserted-by":"publisher","DOI":"10.4103\/0974-9233.75892"},{"key":"e_1_2_7_30_2","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2001.0558"},{"key":"e_1_2_7_31_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh310"},{"key":"e_1_2_7_32_2","doi-asserted-by":"publisher","DOI":"10.3109\/13816819509059971"},{"key":"e_1_2_7_33_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2007.01757.x"},{"key":"e_1_2_7_34_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/115.4.979"},{"key":"e_1_2_7_35_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11845-010-0586-z"},{"key":"e_1_2_7_36_2","first-page":"22","article-title":"Leber's optic neuropathy: a case report","volume":"42","author":"Pato\u2010Pato A","year":"2006","journal-title":"Rev Neurol"},{"key":"e_1_2_7_37_2","first-page":"305","article-title":"Brain white matter 1 H MRS in Leber optic neuropathy mutation carriers","volume":"109","author":"Ostojic J","year":"2009","journal-title":"Acta Neurol Belg"},{"key":"e_1_2_7_38_2","doi-asserted-by":"publisher","DOI":"10.1002\/hbm.20985"},{"key":"e_1_2_7_39_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg101"},{"key":"e_1_2_7_40_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.53.1.79"},{"key":"e_1_2_7_41_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32731"},{"key":"e_1_2_7_42_2","doi-asserted-by":"publisher","DOI":"10.2214\/AJR.05.0180"},{"key":"e_1_2_7_43_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00347-010-2296-3"},{"key":"e_1_2_7_44_2","doi-asserted-by":"publisher","DOI":"10.1097\/00041327-199812000-00014"},{"key":"e_1_2_7_45_2","doi-asserted-by":"publisher","DOI":"10.1007\/s002340050838"},{"key":"e_1_2_7_46_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2006-924226"},{"key":"e_1_2_7_47_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2009.03.007"},{"key":"e_1_2_7_48_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(99)00114-8"},{"key":"e_1_2_7_49_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20746"},{"key":"e_1_2_7_50_2","first-page":"240","article-title":"Is there a final common pathway in mitochondrial encephalomyopathies? Considerations based on an autopsy case of Kearns\u2010Sayre syndrome","volume":"22","author":"M\u00fcller W","year":"2003","journal-title":"Clin Neuropathol"},{"key":"e_1_2_7_51_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(91)90093-M"},{"key":"e_1_2_7_52_2","first-page":"369","article-title":"Neuroradiologic findings in children with mitochondrial disorders","volume":"19","author":"Valanne L","year":"1998","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_7_53_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2006.12.008"},{"issue":"4","key":"e_1_2_7_54_2","article-title":"Mitochondrial mosaics in the liver of 3 infants with mtDNA defects","volume":"9","author":"Roels F","year":"2009","journal-title":"BMC Clin Pathol"},{"key":"e_1_2_7_55_2","first-page":"839","article-title":"Leigh syndrome: serial CT and MR imaging findings","volume":"56","author":"Ariga H","year":"1996","journal-title":"Nippon Igaku Hoshasen Gakkai Zasshi"},{"key":"e_1_2_7_56_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/117.6.1357"},{"key":"e_1_2_7_57_2","doi-asserted-by":"publisher","DOI":"10.1017\/S0012162207000163.x"},{"key":"e_1_2_7_58_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2011.088856"},{"key":"e_1_2_7_59_2","first-page":"241","article-title":"Mitochondrial leukoencephalopathy of infancy: is it an early expression of Leigh syndrome?","volume":"18","author":"Rouco Axpe I","year":"2003","journal-title":"Neurologia"},{"key":"e_1_2_7_60_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2008.11.023"},{"key":"e_1_2_7_61_2","first-page":"216","article-title":"Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study","volume":"9","author":"Zhang Y","year":"2007","journal-title":"Zhongguo Dang Dai Er Ke Za Zhi"},{"key":"e_1_2_7_62_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.283.5402.689"},{"key":"e_1_2_7_63_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2007.01720.x"},{"key":"e_1_2_7_64_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2009.05.005"},{"key":"e_1_2_7_65_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.4.1086"},{"key":"e_1_2_7_66_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2006.07.138"},{"key":"e_1_2_7_67_2","first-page":"665","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)","volume":"145","author":"Honz\u00edk T","year":"2006","journal-title":"Cas Lek Cesk"},{"key":"e_1_2_7_68_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-006-0255-3"},{"key":"e_1_2_7_69_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm242"},{"key":"e_1_2_7_70_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng2013"},{"key":"e_1_2_7_71_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.068221"},{"key":"e_1_2_7_72_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2008.06.002"},{"key":"e_1_2_7_73_2","doi-asserted-by":"publisher","DOI":"10.1177\/0883073810370897"},{"key":"e_1_2_7_74_2","first-page":"1427","article-title":"Infantile\u2010onset spinocerebellar ataxia: MR and CT findings","volume":"16","author":"Koskinen T","year":"1995","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_7_75_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2009.181669"},{"key":"e_1_2_7_76_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.82.9.3063"},{"key":"e_1_2_7_77_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(94)92527-5"},{"key":"e_1_2_7_78_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.8.1440"},{"key":"e_1_2_7_79_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1765"},{"key":"e_1_2_7_80_2","doi-asserted-by":"publisher","DOI":"10.1086\/506913"},{"key":"e_1_2_7_81_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31820e7b25"},{"key":"e_1_2_7_82_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000140494.58732.83"},{"key":"e_1_2_7_83_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1093336"},{"key":"e_1_2_7_84_2","doi-asserted-by":"publisher","DOI":"10.1177\/088307380201700605"},{"key":"e_1_2_7_85_2","doi-asserted-by":"publisher","DOI":"10.1177\/088307380201700112"},{"key":"e_1_2_7_86_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.079624"},{"key":"e_1_2_7_87_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1006823818118"},{"key":"e_1_2_7_88_2","first-page":"813","article-title":"Mitochondrial encephalomyopathy: comparison of conventional MR imaging with diffusion\u2010weighted and diffusion tensor imaging: case report","volume":"23","author":"Majoie CB","year":"2002","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_7_89_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(00)70103-X"},{"key":"e_1_2_7_90_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0368-2315(04)96412-5"},{"key":"e_1_2_7_91_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10540-007-9034-3"},{"key":"e_1_2_7_92_2","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(91)90108-W"},{"key":"e_1_2_7_93_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00234-002-0773-3"},{"key":"e_1_2_7_94_2","first-page":"221","article-title":"Neurodegenerative disease in infants with multiple congenital malformations\u2013report of two cases","volume":"42","author":"Schmidt\u2010Sidor B","year":"2004","journal-title":"Folia Neuropathol"},{"key":"e_1_2_7_95_2","doi-asserted-by":"publisher","DOI":"10.1159\/000049146"},{"key":"e_1_2_7_96_2","first-page":"1840","article-title":"MR diffusion tensor imaging, fiber tracking, and single\u2010voxel spectroscopy findings in an unusual MELAS case","volume":"26","author":"Ducreux D","year":"2005","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_7_97_2","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.103"},{"key":"e_1_2_7_98_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00234-004-1314-z"},{"key":"e_1_2_7_99_2","doi-asserted-by":"publisher","DOI":"10.1017\/S0012162207000163.x"},{"key":"e_1_2_7_100_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-006-0082-y"},{"key":"e_1_2_7_101_2","first-page":"1167","article-title":"MR of the brain in mitochondrial myopathy","volume":"16","author":"Wray SH","year":"1995","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_7_102_2","first-page":"1502","article-title":"Leigh syndrome: serial MR imaging and clinical follow\u2010up","volume":"21","author":"Arii J","year":"2000","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_7_103_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.62.5.737"}],"container-title":["Journal of Neuroimaging"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1552-6569.2011.00693.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1552-6569.2011.00693.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T06:52:38Z","timestamp":1698648758000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1552-6569.2011.00693.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2,3]]},"references-count":102,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012,7]]}},"alternative-id":["10.1111\/j.1552-6569.2011.00693.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1552-6569.2011.00693.x","archive":["Portico"],"relation":{},"ISSN":["1051-2284","1552-6569"],"issn-type":[{"value":"1051-2284","type":"print"},{"value":"1552-6569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,2,3]]}}}