{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T19:17:08Z","timestamp":1762543028293,"version":"3.40.5"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,4,10]],"date-time":"2019-04-10T00:00:00Z","timestamp":1554854400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP16kk0205009","JP18dm0107105"],"award-info":[{"award-number":["JP16kk0205009","JP18dm0107105"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["15K09597"],"award-info":[{"award-number":["15K09597"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>We present an autopsied case with A8344G\u2010mutated myoclonus epilepsy with ragged red fibers (MERRF)\/mitochondrial encephalomyopathy with lactic acidosis and stroke\u2010like episodes (MELAS) overlap syndrome accompanied by stroke\u2010like episodes localized to the precentral gyrus. A 16\u2010year\u2010old Japanese woman suddenly experienced repetitive consciousness disturbances with increased serum lactate and creatine kinase levels. Magnetic resonance imaging showed abnormal intensity of bilateral precentral gyrus. She was clinically diagnosed as having a mitochondrial disorder and the A8344G mutation was detected in mitochondrial DNA. At 17\u2009years of age, she died from congestive heart failure secondary to a third episode of lactic acidosis. Neuropatho\u2010logically, multifocal laminar necrosis, which is responsible for stroke\u2010like episodes in MELAS, was seen in the frontal cortex including the precentral gyrus, but there was no neuronal loss and gliosis in the basal ganglia, cerebellum, and brainstem, which were compatible with MERRF. Hypertrophy of the vascular smooth muscle and choroidal epithelium were seen, and were strongly visualized by an anti\u2010mitochondrial antibody. Skeletal muscles showed uneven muscular diameters, increased central nuclei, and ragged red fibers (RRFs). Decreased cytochrome c oxidase (COX) activity and strongly succinate dehydrogenase (SDH)\u2010reactive blood vessels were also noted. Stroke\u2010like episodes in MERRF\/MELAS overlap syndrome are thought to be rare in the frontal cortex including the precentral gyrus. Only two cases of MERRF\/MELAS overlap syndrome with A8344G mutation, including this case, have shown stroke\u2010like episodes in the frontal lobes. Other than the A8344G mutation and frontal lobe involvement, they had a high degree of similarity in terms of presence of RRFs, gastrointestinal dysfunction, and lack of typical MERRF neuropathology. In conclusion, this is an important case describing the clinical spectrum associated with A8344G\u2010mutated MERRF\/MELAS overlap syndrome.<\/jats:p>","DOI":"10.1111\/neup.12551","type":"journal-article","created":{"date-parts":[[2019,4,12]],"date-time":"2019-04-12T02:37:41Z","timestamp":1555036661000},"page":"212-217","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Autopsied case with MERRF\/MELAS overlap syndrome accompanied by stroke\u2010like episodes localized to the precentral gyrus"],"prefix":"10.1111","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0723-0047","authenticated-orcid":false,"given":"Hiroaki","family":"Miyahara","sequence":"first","affiliation":[{"name":"Department of Neuropathology Institute for Medical Science of Aging, Aichi Medical University  Nagakute 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