{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:23:37Z","timestamp":1777393417686,"version":"3.51.4"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,12,9]],"date-time":"2020-12-09T00:00:00Z","timestamp":1607472000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["20K08196"],"award-info":[{"award-number":["20K08196"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:p>We report clinicopathological findings of a patient with mitochondrial encephalopathy, lactic acidosis, and stroke\u2010like episodes\/Leigh syndrome (MELAS\/LS) associated with a novel m.3482A&gt;G mutation in <jats:italic>MT\u2010ND1<\/jats:italic>. A 41\u2010year\u2010old woman had experienced multiple stroke\u2010like episodes since age 16. She developed akinetic mutism two\u2009months before admission to our hospital. Neurological examination revealed akinetic mutism, bilateral deafness, and muscular atrophy. Cerebrospinal fluid tests revealed elevated pyruvate and lactate levels. Fluid\u2010attenuated inversion recovery images on magnetic resonance imaging showed hyperintense areas in the right frontal and both sides of temporal and occipital lobes, both sides of the striatum, and the midbrain. Muscle biopsy revealed strongly succinate dehydrogenase\u2010reactive blood vessels. L\u2010arginine therapy improved her consciousness and prevented further stroke\u2010like episodes. However, she died from aspiration pneumonia. Postmortem autopsy revealed scattered infarct\u2010like lesions with cavitation in the cerebral cortex and necrotic lesions in the striatum and midbrain. The patient was pathologically confirmed as having MELAS\/LS based on two characteristic clinicopathological findings: presenting MELAS\/LS overlap phenotype and effectiveness of L\u2010arginine treatment.<\/jats:p>","DOI":"10.1111\/neup.12709","type":"journal-article","created":{"date-parts":[[2020,12,10]],"date-time":"2020-12-10T21:50:02Z","timestamp":1607637002000},"page":"84-90","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Clinicopathological findings of a mitochondrial encephalopathy, lactic acidosis, and stroke\u2010like episodes\/Leigh syndrome overlap patient with a novel m.<scp>3482A&gt;G<\/scp> mutation in <scp><i>MT\u2010ND1<\/i><\/scp>"],"prefix":"10.1111","volume":"41","author":[{"given":"Yuichi","family":"Hayashi","sequence":"first","affiliation":[{"name":"Department of Neurology Gifu University Graduate School of Medicine  Gifu 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