{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T18:58:04Z","timestamp":1780599484968,"version":"3.54.1"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T00:00:00Z","timestamp":1773705600000},"content-version":"vor","delay-in-days":16,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP20013"],"award-info":[{"award-number":["GGP20013"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GTB12001D"],"award-info":[{"award-number":["GTB12001D"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an extremely rare autosomal recessive disease caused by variants in the thymidine phosphorylase gene (\n                      <jats:italic>TYMP<\/jats:italic>\n                      ), primarily characterized by severe gastrointestinal and neurological symptoms. The complete phenotype of MNGIE has not been linked to any gene other than\n                      <jats:italic>TYMP<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We describe two identical twins who exhibited delayed psychomotor development, infantile bilateral cataract, congenital demyelinating polyneuropathy, and severe progressive gastrointestinal dysmotility with recurrent pseudo\u2010obstruction episodes, along with diffuse supratentorial leukoencephalopathy that mainly overlaps with classic\n                      <jats:italic>TYMP<\/jats:italic>\n                      \u2010related MNGIE. During the course of the disease, one patient developed Wernicke encephalopathy, triggered by chronic malnutrition related to recurrent gastrointestinal pseudo\u2010obstruction. This patient later suffered from a catastrophic stroke\u2010like episode, resulting in massive cerebral edema and brain death at the age of 38.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Next\u2010generation sequencing (NGS) using a custom\u2010targeted mitochondrial gene panel identified two compound heterozygous variants in the\n                      <jats:italic>POLG<\/jats:italic>\n                      gene: the paternal variants p.Thr251Ile and p.Pro587Leu, occurring\n                      <jats:italic>in cis<\/jats:italic>\n                      , and the novel maternal variant p.Arg853Gly. Quantification of mtDNA by real\u2010time PCR on skeletal muscle DNA detected significant depletion, but no multiple deletions were detected with mtDNA analysis by long\u2010range PCR and Nanopore sequencing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      These cases showed a very distinctive\n                      <jats:italic>POLG<\/jats:italic>\n                      phenotype, with some MNGIE\u2010like features, expanding the clinical and genetic spectrum of the\n                      <jats:italic>POLG<\/jats:italic>\n                      \u2010related diseases. Additionally, they highlighted the importance of monitoring for thiamine deficiency in mitochondrial patients with severe gastrointestinal dysmotility who experience sudden clinical deterioration.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.70554","type":"journal-article","created":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T11:05:08Z","timestamp":1773745508000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Wernicke Encephalopathy Complicating a Distinctive\n                    <scp>\n                      <i>POLG<\/i>\n                    <\/scp>\n                    Phenotype With\n                    <scp>MNGIE<\/scp>\n                    \u2010Like Features"],"prefix":"10.1111","volume":"33","author":[{"given":"Giuliana","family":"Capece","sequence":"first","affiliation":[{"name":"Neuromuscular Unit, Department of Neurosciences DNS University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Caumo","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurosciences DNS University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Volta","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Riguzzi","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurosciences DNS University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Sogus","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurosciences DNS University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Petrosino","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurosciences DNS University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Vianello","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurosciences DNS University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Sabbatini","sequence":"additional","affiliation":[{"name":"Department of Cardiac, Thoracic, Vascular Sciences and Public Health University of Padova  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo","family":"Salviati","sequence":"additional","affiliation":[{"name":"Department of Women's and Children's Health University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renzo","family":"Manara","sequence":"additional","affiliation":[{"name":"Neuroradiology, Department of Neurosciences DNS University\u2010Hospital of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Viscomi","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianni","family":"Sorar\u00f9","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurosciences DNS University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3075-6525","authenticated-orcid":false,"given":"Luca","family":"Bello","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurosciences DNS University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7740-4156","authenticated-orcid":false,"given":"Elena","family":"Pegoraro","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurosciences DNS University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,17]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200006)47:6<792::AID-ANA12>3.0.CO;2-Y"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010011\u20106268\u20106"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab056"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2009.139"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1177\/10935266251321317"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20824"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbabio.2004.09.006"},{"key":"e_1_2_12_9_1","first-page":"1993","volume-title":"GeneReviews","author":"Cohen B. 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