{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T10:00:21Z","timestamp":1780480821545,"version":"3.54.1"},"reference-count":7,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,10,18]],"date-time":"2020-10-18T00:00:00Z","timestamp":1602979200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Gerstmann\u2010Struassler\u2010Scheinker disease is one of the familial prion diseases secondary to mutations in the prion protein gene (<jats:italic>PRNP<\/jats:italic>). The clinical phenotype has a diverse spectrum and might show variation among cases with the same genotype. We report a patient with G131V mutation in the <jats:italic>PRNP<\/jats:italic> gene, who was initially considered to harbor familial Alzheimer\u2019s disease, based on the family history, clinical presentation and imaging findings.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A case with a G131V mutation in the <jats:italic>PRNP<\/jats:italic> gene is described, and the literature is reviewed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A 35\u2010year\u2010old man presented with personality changes, behavioral disturbances and cognitive complaints. A similar clinical phenotype was reported in the patient\u2019s father, a paternal uncle and a paternal aunt. In conjunction with the observation of mild cerebral atrophy on magnetic resonance imaging and hypometabolism in bilateral temporal and parietal lobes on positron\u2010emission tomography studies, the diagnosis was initially considered as familial Alzheimer\u2019s disease. However, whole\u2010exome sequencing of the index patient, confirmed with Sanger sequencing in his father and uncle, revealed the presence of a heterozygous G131V variant in the <jats:italic>PRNP<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>To the best of our knowledge, this is the third report of a G131V mutation in the <jats:italic>PRNP<\/jats:italic> gene in the literature. Although ataxia and extrapyramidal findings accompanied dementia in patients reported in the previous literature, the members of the family in the present case primarily reported cognitive impairment, underscoring the importance of genetic evaluation in familial early\u2010onset dementia patients, regardless of clinical and imaging features suggestive of alternative pathologies.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.14559","type":"journal-article","created":{"date-parts":[[2020,9,28]],"date-time":"2020-09-28T17:44:04Z","timestamp":1601315044000},"page":"377-380","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["An unusual familial dementia associated with G131V <i>PRNP<\/i> mutation"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1132-3660","authenticated-orcid":false,"given":"E.","family":"Yetim","sequence":"first","affiliation":[{"name":"Department of Neurology Faculty of Medicine Hacettepe University Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1818-9839","authenticated-orcid":false,"given":"T.","family":"Gul","sequence":"additional","affiliation":[{"name":"Suna and \u0130nan K\u0131ra\u00e7 Foundation\u2010NDAL Koc University, School of Medicine\u2010KUTTAM Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. N.","family":"Basak","sequence":"additional","affiliation":[{"name":"Suna and \u0130nan K\u0131ra\u00e7 Foundation\u2010NDAL Koc University, School of Medicine\u2010KUTTAM Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Saka","sequence":"additional","affiliation":[{"name":"Department of Neurology Faculty of Medicine Hacettepe University Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,10,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.58.11.1899"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e3182270c54"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/0891988710383576"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.18.10168"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-020-00966-x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1099\/vir.0.81630-0"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25188"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.14559","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ene.14559","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.14559","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,3]],"date-time":"2023-09-03T06:01:50Z","timestamp":1693720910000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.14559"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,18]]},"references-count":7,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,2]]}},"alternative-id":["10.1111\/ene.14559"],"URL":"https:\/\/doi.org\/10.1111\/ene.14559","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,18]]},"assertion":[{"value":"2020-09-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}