{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T23:33:23Z","timestamp":1791502403859,"version":"4.3.4"},"reference-count":61,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2024,1,27]],"date-time":"2024-01-27T00:00:00Z","timestamp":1706313600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","award":["RIN- RCR-2019-23669119_003"],"award-info":[{"award-number":["RIN- RCR-2019-23669119_003"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","award":["RCR-2022-23\u2009682\u2009291"],"award-info":[{"award-number":["RCR-2022-23\u2009682\u2009291"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","award":["2022\u20132024"],"award-info":[{"award-number":["2022\u20132024"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,3,13]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Parkinson\u2019s disease (PD) is the second most common neurodegenerative disorder and is clinically characterized by the presence of motor (bradykinesia, rigidity, rest tremor and postural instability) and non-motor symptoms (cognitive impairment, autonomic dysfunction, sleep disorders, depression and hyposmia). The aetiology of PD is unknown except for a small but significant contribution of monogenic forms.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Sources of data<\/jats:title>\n                  <jats:p>No new data were generated or analyzed in support of this review.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Areas of agreement<\/jats:title>\n                  <jats:p>Up to 15% of PD patients carry pathogenic variants in PD-associated genes. Some of these genes are associated with mendelian inheritance, while others act as risk factors. Genetic background influences age of onset, disease course, prognosis and therapeutic response.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Areas of controversy<\/jats:title>\n                  <jats:p>Genetic testing is not routinely offered in the clinical setting, but it may have relevant implications, especially in terms of prognosis, response to therapies and inclusion in clinical trials. Widely adopted clinical guidelines on genetic testing are still lacking and open to debate. Some new genetic associations are still awaiting confirmation, and selecting the appropriate genes to be included in diagnostic panels represents a difficult task. Finally, it is still under study whether (and to which degree) specific genetic forms may influence the outcome of PD therapies.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Growing points<\/jats:title>\n                  <jats:p>Polygenic Risk Scores (PRS) may represent a useful tool to genetically stratify the population in terms of disease risk, prognosis and therapeutic outcomes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Areas timely for developing research<\/jats:title>\n                  <jats:p>The application of PRS and integrated multi-omics in PD promises to improve the personalized care of patients.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/bmb\/ldad035","type":"journal-article","created":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T02:34:18Z","timestamp":1706495658000},"page":"60-71","source":"Crossref","is-referenced-by-count":71,"title":["Genetics in Parkinson\u2019s disease, state-of-the-art and future perspectives"],"prefix":"10.1093","volume":"149","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8608-4342","authenticated-orcid":false,"given":"L","family":"Trevisan","sequence":"first","affiliation":[{"name":"Department of Neuroscience , Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, , Largo P. 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Benzi 10, Genova, 16132 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Monfrini","sequence":"additional","affiliation":[{"name":"Dino Ferrari Center , Neuroscience Section, Department of Pathophysiology and Transplantation, , Via Francesco Sforza 35, Milan, 20122 , Italy"},{"name":"University of Milan , Neuroscience Section, Department of Pathophysiology and Transplantation, , Via Francesco Sforza 35, Milan, 20122 , Italy"},{"name":"Neurology Unit, Foundation IRCCS Ca\u2019Granda Ospedale Maggiore Policlinico , Via Festa del Perdono 7, Milan, 20122 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Avanzino","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine , Section of Human Physiology, , Viale Benedetto XV\/3, Genova, 16132 , Italy"},{"name":"University of Genoa , Section of Human Physiology, , Viale Benedetto XV\/3, Genova, 16132 , Italy"},{"name":"IRCCS Ospedale Policlinico San Martino , Largo Rosanna Benzi 3, Genova, 16132 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Di Fonzo","sequence":"additional","affiliation":[{"name":"Dino Ferrari Center , Neuroscience Section, Department of Pathophysiology and Transplantation, , Via Francesco Sforza 35, Milan, 20122 , Italy"},{"name":"University of Milan , Neuroscience Section, Department of Pathophysiology and Transplantation, , Via Francesco Sforza 35, Milan, 20122 , Italy"},{"name":"Neurology Unit, Foundation IRCCS Ca\u2019Granda Ospedale Maggiore Policlinico , Via Festa del Perdono 7, Milan, 20122 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Mandich","sequence":"additional","affiliation":[{"name":"Department of Neuroscience , Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, , Largo P. 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