{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T09:34:06Z","timestamp":1777628046166,"version":"3.51.4"},"reference-count":47,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2023,9,22]],"date-time":"2023-09-22T00:00:00Z","timestamp":1695340800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Semmelweis Science and Innovation Fund\u2014Research and Development Application"},{"name":"B\u00f3lyai scholarship of the Hungarian Academy of Sciences"},{"name":"\u00daNKP-20-5 and \u00daNKP-21-5 New National Excellence Program of the Ministry for Innovation and Technology"},{"name":"Semmelweis University-E\u00f6tv\u00f6s L\u00f3r\u00e1nd Research Network"},{"name":"VEKOP-2.3.3-15-2017-00016"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Background and Objectives: Progressive supranuclear palsy (PSP) is a neurodegenerative disease, a tauopathy, which results in a wide clinical spectrum of neurological symptoms. The diagnosis is mostly based on clinical signs and neuroimaging; however, possible biomarkers for screening have been under investigation, and the role of the gut microbiome is unknown. The aim of our study was to identify potential blood biomarkers and observe variations in the gut microbiome within a PSP discordant monozygotic twin pair. Materials and Methods: Anthropometric measurements, neuropsychological tests, and the neurological state were evaluated. Blood was collected for metabolic profiling and for the detection of neurodegenerative and vascular biomarkers. Both the gut microbiome and brain MRI results were thoroughly examined. Results: We found a relevant difference between alpha-synuclein levels and moderate difference in the levels of MMP-2, MB, Apo-A1, Apo-CIII, and Apo-H. With respect to the ratios, a small difference was observed for ApoA1\/SAA and ApoB\/ApoA1. Using a microbiome analysis, we also discovered a relative dysbiosis, and the MRI results revealed midbrain and frontoparietal cortical atrophy along with a reduction in overall brain volumes and an increase in white matter lesions in the affected twin. Conclusions: We observed significant differences between the unaffected and affected twins in some risk factors and blood biomarkers, along with disparities in the gut microbiome. Additionally, we detected abnormalities in brain MRI results and alterations in cognitive functions.<\/jats:p>","DOI":"10.3390\/medicina59101696","type":"journal-article","created":{"date-parts":[[2023,9,22]],"date-time":"2023-09-22T05:32:45Z","timestamp":1695360765000},"page":"1696","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Analysis of Genetic and MRI Changes, Blood Markers, and Risk Factors in a Twin Pair Discordant of Progressive Supranuclear Palsy"],"prefix":"10.3390","volume":"59","author":[{"given":"Aliz","family":"Persely","sequence":"first","affiliation":[{"name":"Medical Imaging Centre, Semmelweis University, 1082 Budapest, Hungary"},{"name":"Neurology Department, Medical Centre Hungarian Defence Forces, 1134 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatrix","family":"Beszedics","sequence":"additional","affiliation":[{"name":"Medical Imaging Centre, Semmelweis University, 1082 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krisztina","family":"Paloczi","sequence":"additional","affiliation":[{"name":"Department of Genetics, Cell- and Immunobiology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6000-5044","authenticated-orcid":false,"given":"Marton","family":"Piroska","sequence":"additional","affiliation":[{"name":"Medical Imaging Centre, Semmelweis University, 1082 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6942-9997","authenticated-orcid":false,"given":"Amirreza","family":"Alijanpourotaghsara","sequence":"additional","affiliation":[{"name":"Medical Imaging Centre, Semmelweis University, 1082 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5911-9335","authenticated-orcid":false,"given":"David","family":"Strelnikov","sequence":"additional","affiliation":[{"name":"Medical Imaging Centre, Semmelweis University, 1082 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arsalan","family":"Vessal","sequence":"additional","affiliation":[{"name":"Medical Imaging Centre, Semmelweis University, 1082 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helga","family":"Szabo","sequence":"additional","affiliation":[{"name":"Medical Imaging Centre, Semmelweis University, 1082 Budapest, Hungary"},{"name":"Central Radiological Diagnostic Department, Medical Centre Hungarian Defence Forces, 1134 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5875-4006","authenticated-orcid":false,"given":"Anita","family":"Hernyes","sequence":"additional","affiliation":[{"name":"Medical Imaging Centre, Semmelweis University, 1082 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Zoldi","sequence":"additional","affiliation":[{"name":"Medical Imaging Centre, Semmelweis University, 1082 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zsofia","family":"Jokkel","sequence":"additional","affiliation":[{"name":"Medical Imaging Centre, Semmelweis University, 1082 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Fekete","sequence":"additional","affiliation":[{"name":"Medical Imaging Centre, Semmelweis University, 1082 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janos","family":"Juhasz","sequence":"additional","affiliation":[{"name":"Institute of Medical Microbiology, Semmelweis University, 1085 Budapest, Hungary"},{"name":"Faculty of Information Technology and Bionics, Pazmany Peter Catholic University, 1085 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nora","family":"Makra","sequence":"additional","affiliation":[{"name":"Institute of Medical Microbiology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dora","family":"Szabo","sequence":"additional","affiliation":[{"name":"Institute of Medical Microbiology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3744-206X","authenticated-orcid":false,"given":"Edit","family":"Buzas","sequence":"additional","affiliation":[{"name":"Department of Genetics, Cell- and Immunobiology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5909-3780","authenticated-orcid":false,"given":"Adam Domonkos","family":"Tarnoki","sequence":"additional","affiliation":[{"name":"Medical Imaging Centre, Semmelweis University, 1082 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7001-7647","authenticated-orcid":false,"given":"David Laszlo","family":"Tarnoki","sequence":"additional","affiliation":[{"name":"Medical Imaging Centre, Semmelweis University, 1082 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,9,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1055\/s-0034-1381736","article-title":"Progressive Supranuclear Palsy","volume":"34","author":"Golbe","year":"2014","journal-title":"Semin. 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