{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T23:51:32Z","timestamp":1781221892805,"version":"3.54.1"},"reference-count":39,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T00:00:00Z","timestamp":1778198400000},"content-version":"vor","delay-in-days":7,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100009094","name":"Turun Yliopistollisen Keskussairaalan Koulutus- ja Tutkimuss\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009094","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Primary mitochondrial diseases frequently affect the central nervous system, yet the extent, distribution and progression of white matter hyperintensities (WMHs) remain insufficiently characterised, particularly in terms of quantitative volumetrics and longitudinal progression. Although WMHs are typically attributed to cerebral small\u2010vessel disease, mitochondrial disorders may cause white matter injury through distinct vascular and metabolic mechanisms. We conducted a retrospective single\u2010centre study at Turku University Hospital including 36 patients with mitochondrial disease, each with at least one brain MRI (73 images). Longitudinal data were available for 15 patients. Three\u2010dimensional T1\u2010weighted and FLAIR images (1.5\/3\u2009T) were analysed with the FDA\u2010cleared cNeuro tool to obtain intracranial volume\u2013normalised WMH and lesion volumes and an automated global Fazekas score. At baseline (median age 49\u2009years), WMHs were present in all supratentorial regions. Over time, WMH volumes increased significantly in periventricular, deep and juxtacortical regions, while lesion progression was predominantly periventricular. Fazekas scores remained generally low and stable. In follow\u2010up imaging, women and patients carrying the m.3243A&gt;G variant showed a greater burden of WMHs and lesions, compared with men and those with other mitochondrial diagnoses. WMH load did not differ according to history of stroke\u2010like episodes. Mitochondrial disease is associated with early and progressive WMH accumulation, particularly in individuals with the m.3243A&gt;G variant, and the pattern exceeds what would be expected from conventional vascular risk factors alone. These findings support a disease\u2010specific mechanism of white matter vulnerability and highlight the importance of quantitative MRI for monitoring progression in mitochondrial disease.<\/jats:p>","DOI":"10.1002\/jmd2.70093","type":"journal-article","created":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T03:50:09Z","timestamp":1778298609000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Progressive White Matter Changes in Mitochondrial Disease: A Quantitative\n                    <scp>MRI<\/scp>\n                    Study"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-6027-3054","authenticated-orcid":false,"given":"Nora","family":"Mickelsson","sequence":"first","affiliation":[{"name":"Clinical Neurosciences, Department of Clinical Medicine University of Turku  Turku Finland"},{"name":"Neurocenter Turku University Hospital  Turku Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jussi","family":"Hirvonen","sequence":"additional","affiliation":[{"name":"Department of Radiology Turku University Hospital  Turku Finland"},{"name":"Department of Radiology, Faculty of Medicine and Health Technology University of Tampere  Tampere Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mika H.","family":"Martikainen","sequence":"additional","affiliation":[{"name":"Clinical Neurosciences, Department of Clinical Medicine University of Turku  Turku Finland"},{"name":"Neurocenter Turku University Hospital  Turku Finland"},{"name":"Research Unit of Clinical Neuroscience, Neurology University of Oulu  Oulu Finland"},{"name":"Neurocenter and Medical Research Center Oulu University Hospital  Oulu 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