{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T04:04:16Z","timestamp":1778558656090,"version":"3.51.4"},"reference-count":32,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Estimates of the spectrum and frequency of pathogenic variants in Parkinson\u2019s disease (PD) in different populations are currently limited and biased. Furthermore, although therapeutic modification of several genetic targets has reached the clinical trial stage, a major obstacle in conducting these trials is that PD patients are largely unaware of their genetic status and, therefore, cannot be recruited. Expanding the number of investigated PD-related genes and including genes related to disorders with overlapping clinical features in large, well-phenotyped PD patient groups is a prerequisite for capturing the full variant spectrum underlying PD and for stratifying and prioritizing patients for gene-targeted clinical trials. The Rostock Parkinson\u2019s disease (ROPAD) study is an observational clinical study aiming to determine the frequency and spectrum of genetic variants contributing to PD in a large international cohort.<\/jats:p><jats:p>We investigated variants in 50 genes with either an established relevance for PD or possible phenotypic overlap in a group of 12 580 PD patients from 16 countries [62.3% male; 92.0% White; 27.0% positive family history (FH+), median age at onset (AAO) 59 years] using a next-generation sequencing panel.<\/jats:p><jats:p>Altogether, in 1864 (14.8%) ROPAD participants (58.1% male; 91.0% White, 35.5% FH+, median AAO 55 years), a PD-relevant genetic test (PDGT) was positive based on GBA1 risk variants (10.4%) or pathogenic\/likely pathogenic variants in LRRK2 (2.9%), PRKN (0.9%), SNCA (0.2%) or PINK1 (0.1%) or a combination of two genetic findings in two genes (\u223c0.2%). Of note, the adjusted positive PDGT fraction, i.e. the fraction of positive PDGTs per country weighted by the fraction of the population of the world that they represent, was 14.5%. Positive PDGTs were identified in 19.9% of patients with an AAO \u2264 50 years, in 19.5% of patients with FH+ and in 26.9% with an AAO \u2264 50 years and FH+. In comparison to the idiopathic PD group (6846 patients with benign variants), the positive PDGT group had a significantly lower AAO (4 years, P = 9 \u00d7 10\u221234). The probability of a positive PDGT decreased by 3% with every additional AAO year (P = 1 \u00d7 10\u221235). Female patients were 22% more likely to have a positive PDGT (P = 3 \u00d7 10\u22124), and for individuals with FH+ this likelihood was 55% higher (P = 1 \u00d7 10\u221214). About 0.8% of the ROPAD participants had positive genetic testing findings in parkinsonism-, dystonia\/dyskinesia- or dementia-related genes.<\/jats:p><jats:p>In the emerging era of gene-targeted PD clinical trials, our finding that \u223c15% of patients harbour potentially actionable genetic variants offers an important prospect to affected individuals and their families and underlines the need for genetic testing in PD patients. Thus, the insights from the ROPAD study allow for data-driven, differential genetic counselling across the spectrum of different AAOs and family histories and promote a possible policy change in the application of genetic testing as a routine part of patient evaluation and care in PD.<\/jats:p>","DOI":"10.1093\/brain\/awae188","type":"journal-article","created":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T21:39:41Z","timestamp":1722548381000},"page":"2652-2667","source":"Crossref","is-referenced-by-count":81,"title":["Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson\u2019s disease study"],"prefix":"10.1093","volume":"147","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8062-6959","authenticated-orcid":false,"given":"Ana","family":"Westenberger","sequence":"first","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, University Medical Center Schleswig-Holstein , 23538 L\u00fcbeck, Schleswig-Holstein , Germany"}]},{"given":"Volha","family":"Skrahina","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH , 18055 Rostock, Mecklenburg-Vorpommern , Germany"}]},{"given":"Tatiana","family":"Usnich","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, University Medical Center Schleswig-Holstein , 23538 L\u00fcbeck, Schleswig-Holstein , Germany"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7061-2895","authenticated-orcid":false,"given":"Christian","family":"Beetz","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH , 18055 Rostock, Mecklenburg-Vorpommern , Germany"}]},{"given":"Eva-Juliane","family":"Vollstedt","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, University Medical Center Schleswig-Holstein , 23538 L\u00fcbeck, Schleswig-Holstein , Germany"}]},{"given":"Bj\u00f6rn-Hergen","family":"Laabs","sequence":"additional","affiliation":[{"name":"Institute of Medical Biometry and Statistics, University of L\u00fcbeck, University Medical Center Schleswig-Holstein , 23562 L\u00fcbeck, Schleswig-Holstein , Germany"}]},{"given":"Jefri J","family":"Paul","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH , 18055 Rostock, Mecklenburg-Vorpommern , Germany"}]},{"given":"Filipa","family":"Curado","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH , 18055 Rostock, Mecklenburg-Vorpommern , Germany"}]},{"given":"Snezana","family":"Skobalj","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH , 18055 Rostock, Mecklenburg-Vorpommern , Germany"}]},{"given":"Hanaa","family":"Gaber","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH , 18055 Rostock, Mecklenburg-Vorpommern , Germany"},{"name":"Department of Clinical Project Management, IQVIA , 60549 Frankfurt am Main, Hessen , Germany"}]},{"given":"Maria","family":"Olmedillas","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH , 18055 Rostock, Mecklenburg-Vorpommern , Germany"}]},{"given":"Xenia","family":"Bogdanovic","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH , 18055 Rostock, Mecklenburg-Vorpommern , Germany"}]},{"given":"Najim","family":"Ameziane","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH , 18055 Rostock, Mecklenburg-Vorpommern , Germany"}]},{"given":"Nathalie","family":"Schell","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, University Medical Center Schleswig-Holstein , 23538 L\u00fcbeck, Schleswig-Holstein , Germany"}]},{"given":"Jan Olav","family":"Aasly","sequence":"additional","affiliation":[{"name":"Department of Neurology, St. Olavs Hospital , 7006 Trondheim, Tr\u00f8ndelag , Norway"},{"name":"Department of Neuroscience, Norwegian University of Science and Technology , 7034 Trondheim , Norway"}]},{"given":"Mitra","family":"Afshari","sequence":"additional","affiliation":[{"name":"Department of Neurological Sciences, Rush University Medical Center , Chicago, IL 60612 , USA"}]},{"given":"Pinky","family":"Agarwal","sequence":"additional","affiliation":[{"name":"Evergreen Health Neuroscience Institute , Kirkland, WA 98034 , USA"}]},{"given":"Jason","family":"Aldred","sequence":"additional","affiliation":[{"name":"Inland Northwest Research , Spokane, WA 99202 , USA"}]},{"given":"Fernando","family":"Alonso-Frech","sequence":"additional","affiliation":[{"name":"Department of Neurology, Movement Disorders Unit, Hospital Cl\u00ednico San Carlos , 28040 Madrid, Madrid , Spain"}]},{"given":"Roderick","family":"Anderson","sequence":"additional","affiliation":[{"name":"Tucson Neuroscience Research , Tucson, AZ 85710 , USA"}]},{"given":"Rui","family":"Ara\u00fajo","sequence":"additional","affiliation":[{"name":"Department of Neurology, Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o , 4200-319 Porto, Porto District , Portugal"},{"name":"Department of Clinical Neurosciences and Mental Health, Faculty of Medicine, University of Porto , 4200-319 Porto, Porto District , Portugal"}]},{"given":"David","family":"Arkadir","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medicine, Hadassah Medical Organization, Hebrew University , 91120 Jerusalem, Jerusalem District , Israel"}]},{"given":"Micol","family":"Avenali","sequence":"additional","affiliation":[{"name":"Neurogenetics Research Center, IRCCS Mondino Foundation , 27100 Pavia , Italy"},{"name":"Department of Brain and Behavioral Sciences, University of Pavia , 27100 Pavia, Lombardy , Italy"}]},{"given":"Mehmet","family":"Balal","sequence":"additional","affiliation":[{"name":"Department of Neurology, School of Medicine, \u00c7ukurova University , 01330 Adana, Adana , Turkey"}]},{"given":"Sandra","family":"Benizri","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, Assuta Ramat Ha Hayal Hospital , 69710 Tel Aviv, Tel Aviv District , Israel"}]},{"given":"Sagari","family":"Bette","sequence":"additional","affiliation":[{"name":"Parkinson\u2019s Disease and Movement Disorders Center of Boca Raton , Boca Raton, FL 33486 , USA"}]},{"given":"Perminder","family":"Bhatia","sequence":"additional","affiliation":[{"name":"Neuro Pain Medical Center , Fresno, CA 93720 , USA"}]},{"given":"Michael","family":"Bonello","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Walton Centre NHS Foundation Trust , Liverpool, Merseyside L9 7LJ , UK"}]},{"given":"Pedro","family":"Braga-Neto","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Clinical Medicine, Federal University of Cear\u00e1 , 60430-140 Fortaleza , Brazil"},{"name":"Center of Health Science, Universidade Estadual do Cear\u00e1 , 60714-903 Fortaleza, Cear\u00e1 , Brazil"}]},{"given":"Sarah","family":"Brauneis","sequence":"additional","affiliation":[{"name":"Inland Northwest Research , Spokane, WA 99202 , USA"}]},{"given":"Francisco Eduardo Costa","family":"Cardoso","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, Neurology Service, Department of Internal Medicine, Federal University of Minas Gerais , 31270-901 Belo Horizonte, Minas Gerais , Brazil"}]},{"given":"Francesco","family":"Cavallieri","sequence":"additional","affiliation":[{"name":"Neurology Unit, Neuromotor and Rehabilitation Department, Azienda Unit\u00e0 Sanitaria Locale-IRCCS di Reggio Emilia , 42122 Reggio Emilia, Emilia-Romagna , Italy"}]},{"given":"Joseph","family":"Classen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Leipzig University Medical Center , 04103 Leipzig, Saxony , Germany"}]},{"given":"Lisa","family":"Cohen","sequence":"additional","affiliation":[{"name":"Wake Research , Raleigh, NC 27612 , USA"}]},{"given":"Della","family":"Coletta","sequence":"additional","affiliation":[{"name":"Department of Neurology, Universidade do Estado do Amazonas , 69050-010 Manaus AM, Amazonas , Brazil"}]},{"given":"David","family":"Crosiers","sequence":"additional","affiliation":[{"name":"Department of Neurology, Antwerp University Hospital , 2650 Edegem, Flemish , Belgium"},{"name":"Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp , 2610 Antwerp, Flemish , Belgium"}]},{"given":"Paskal","family":"Cullufi","sequence":"additional","affiliation":[{"name":"Pediatric Department, University Hospital \u2018Mother Teresa\u2019 , 1001 Tirana, Tirana County , Albania"}]},{"given":"Khashayar","family":"Dashtipour","sequence":"additional","affiliation":[{"name":"Department of Neurology, Division of Movement Disorders, Loma Linda University School of Medicine , Loma Linda, CA 92354 , USA"}]},{"given":"Meltem","family":"Demirkiran","sequence":"additional","affiliation":[{"name":"Department of Neurology, School of Medicine, \u00c7ukurova University , 01330 Adana, Adana , Turkey"}]},{"given":"Patricia","family":"de Carvalho Aguiar","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Hospital Israelita Albert Einstein , 05651-901 Sao Paulo, Sao Paulo , Brazil"}]},{"given":"Anna","family":"De Rosa","sequence":"additional","affiliation":[{"name":"Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University , 80131 Naples, Campania Region , Italy"}]},{"given":"Ruth","family":"Djaldetti","sequence":"additional","affiliation":[{"name":"Department of Neurology, Movement Disorders Clinic, Rabin Medical Center-Beilinson Hospital , 49100 Petach Tikva, Central District , Israel"},{"name":"Sackler Faculty of Medicine, Tel Aviv University , 6997801 Tel Aviv, Tel Aviv District , Israel"}]},{"given":"Okan","family":"Dogu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Mersin University , 33343 Mersin, Mersin Province , Turkey"}]},{"given":"Maria Gabriela","family":"dos Santos Ghilardi","sequence":"additional","affiliation":[{"name":"Laboratory of Neuroscience, Hospital S\u00edrio-Liban\u00eas , 01308-050 S\u00e3o Paulo, S\u00e3o Paulo , Brazil"},{"name":"Department of Neurology, University of S\u00e3o Paulo Medical School , 01246-903 S\u00e3o Paulo, S\u00e3o Paulo , Brazil"}]},{"given":"Carsten","family":"Eggers","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital Marburg , 35037 Marburg, Hesse , Germany"},{"name":"Department of Neurology, Knappschaftskrankenhaus Bottrop , 46242 Bottrop, North Rhine-Westphalia , Germany"}]},{"given":"Bulent","family":"Elibol","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medicine, Hacettepe University , 06100 Ankara, Ankara , Turkey"}]},{"given":"Aaron","family":"Ellenbogen","sequence":"additional","affiliation":[{"name":"Michigan Institute for Neurological Disorders , Farmington Hills, MI 48334 , USA"},{"name":"Quest Research Institute , Farmington Hills, MI 48334 , USA"}]},{"given":"Sibel","family":"Ertan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Ko\u00e7 University , 34450 Istanbul, Istanbul , Turkey"}]},{"given":"Giorgio","family":"Fabiani","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, Hospital Angelina Caron , 83430-000 Curitiba, Paran\u00e1 , Brazil"}]},{"given":"Bj\u00f6rn H","family":"Falkenburger","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital and Faculty of Medicine Carl Gustav Carus , 01307 Dresden, Saxony , Germany"}]},{"given":"Simon","family":"Farrow","sequence":"additional","affiliation":[{"name":"Clinical Research Center of Nevada , Las Vegas, NV 89119 , USA"}]},{"given":"Tsviya","family":"Fay-Karmon","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine, Tel Aviv University , 6997801 Tel Aviv, Tel Aviv District , Israel"},{"name":"Movement Disorders Institute and Department of Neurology, Chaim Sheba Medical Center , 52621 Ramat-Gan, Tel Aviv District , Israel"}]},{"given":"Gerald J","family":"Ferencz","sequence":"additional","affiliation":[{"name":"Shore Neurology, RWJBarnabas Health Medical Group , Toms River, NJ 08755 , USA"}]},{"given":"Erich Talamoni","family":"Fonoff","sequence":"additional","affiliation":[{"name":"Laboratory of Neuroscience, Hospital S\u00edrio-Liban\u00eas , 01308-050 S\u00e3o Paulo, S\u00e3o Paulo , Brazil"},{"name":"Department of Neurology, University of S\u00e3o Paulo Medical School , 01246-903 S\u00e3o Paulo, S\u00e3o Paulo , Brazil"}]},{"given":"Yara Dadalti","family":"Fragoso","sequence":"additional","affiliation":[{"name":"Department of Neurology, Universidade Metropolitana de Santos , 11070-100 Santos SP, S\u00e3o Paulo , Brazil"}]},{"given":"Gen\u00e7er","family":"Gen\u00e7","sequence":"additional","affiliation":[{"name":"Department of Neurology, \u015ei\u015fli Etfal Training and Research Hospital, University of Health Sciences , 34371 Istanbul, Istanbul , Turkey"}]},{"given":"Arantza","family":"Gorospe","sequence":"additional","affiliation":[{"name":"Department of Neurology, de Navarra University Hospital , 31008 Pamplona, Navarre , Spain"}]},{"given":"Francisco","family":"Grandas","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, University General Hospital Gregorio Mara\u00f1\u00f3n , 28007 Madrid, Madrid , Spain"}]},{"given":"Doreen","family":"Gruber","sequence":"additional","affiliation":[{"name":"Movement Disorders Clinic , 14547 Beelitz-Heilst\u00e4tten, Brandenburg , Germany"}]},{"given":"Mark","family":"Gudesblatt","sequence":"additional","affiliation":[{"name":"NYU Langone South Shore Neurologic Associates , Islip, NY 11751 , USA"}]},{"given":"Tanya","family":"Gurevich","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, Neurological Institute, Tel Aviv Sourasky Medical Center, Tel Aviv University , 6423906 Tel Aviv, Tel Aviv District , Israel"}]},{"given":"Johann","family":"Hagenah","sequence":"additional","affiliation":[{"name":"Department of Neurology, Westk\u00fcstenklinikum Heide , 25746 Heide, Schleswig-Holstein , Germany"}]},{"given":"Hasmet A","family":"Hanagasi","sequence":"additional","affiliation":[{"name":"Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University , 34093 Istanbul, Istanbul , Turkey"}]},{"given":"Sharon","family":"Hassin-Baer","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine, Tel Aviv University , 6997801 Tel Aviv, Tel Aviv District , Israel"},{"name":"Movement Disorders Institute and Department of Neurology, Chaim Sheba Medical Center , 52621 Ramat-Gan, Tel Aviv District , Israel"}]},{"given":"Robert A","family":"Hauser","sequence":"additional","affiliation":[{"name":"University of South Florida Parkinson\u2019s Disease and Movement Disorders Center of Excellence , Tampa, FL 33612 , USA"}]},{"given":"Jorge","family":"Hern\u00e1ndez-Vara","sequence":"additional","affiliation":[{"name":"Neurology Department, Vall d\u2019Hebron University Hospital, Universitat Aut\u00f2noma de Barcelona , 08035 Barcelona, Catalonia , Spain"}]},{"given":"Birgit","family":"Herting","sequence":"additional","affiliation":[{"name":"Neurological Clinic, Diakonie-Klinikum Schw\u00e4bisch Hall , 74523 Schw\u00e4bisch Hall, Baden-W\u00fcrttemberg , Germany"}]},{"given":"Vanessa K","family":"Hinson","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of South Carolina , Charleston, SC 29425 , USA"}]},{"given":"Elliot","family":"Hogg","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Cedars-Sinai Medical Center, Movement Disorder Program , Los Angeles, CA 90048 , USA"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6382-5841","authenticated-orcid":false,"given":"Michele T","family":"Hu","sequence":"additional","affiliation":[{"name":"Nuffield Department of Clinical Neurosciences, Division of Clinical Neurology, University of Oxford , Oxford OX3 9DU , UK"}]},{"given":"Eduardo","family":"Hummelgen","sequence":"additional","affiliation":[{"name":"Neurology Service, Hospital Angelina Caron , 83430-000 Curitiba, Paran\u00e1 , Brazil"}]},{"given":"Kelly","family":"Hussey","sequence":"additional","affiliation":[{"name":"University of South Florida Parkinson\u2019s Disease and Movement Disorders Center of Excellence , Tampa, FL 33612 , USA"}]},{"given":"Jon","family":"Infante","sequence":"additional","affiliation":[{"name":"Service of Neurology, University Hospital \u2018Marqu\u00e9s de Valdecilla (IDIVAL)\u2019, University of Cantabria, and \u2018Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas (CIBERNED)\u2019 , 39008 Santander, Cantabria , Spain"}]},{"given":"Stuart H","family":"Isaacson","sequence":"additional","affiliation":[{"name":"Parkinson\u2019s Disease and Movement Disorders Center of Boca Raton , Boca Raton, FL 33486 , USA"}]},{"given":"Serge","family":"Jauma","sequence":"additional","affiliation":[{"name":"Neurology Service, Hospital Universitari de Bellvitge , 08907 Barcelona, Catalonia , Spain"}]},{"given":"Natalia","family":"Koleva-Alazeh","sequence":"additional","affiliation":[{"name":"Parkinson-Center, Gertrudisklinik Biskirchen , 35638 Leun, Hesse , Germany"}]},{"given":"Gregor","family":"Kuhlenb\u00e4umer","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Medical Center Schleswig-Holstein , Campus Kiel, 24105 Kiel, Schleswig-Holstein , Germany"}]},{"given":"Andrea","family":"K\u00fchn","sequence":"additional","affiliation":[{"name":"Movement Disorder and Neuromodulation Unit, Department of Neurology, Charit\u00e9, University Medicine Berlin , 10117 Berlin, Berlin , Germany"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3485-3445","authenticated-orcid":false,"given":"Irene","family":"Litvan","sequence":"additional","affiliation":[{"name":"Parkinson and Other Movement Disorders Center, University of California San Diego Health , La Jolla, San Diego, CA 92037 , USA"}]},{"given":"Lydia","family":"L\u00f3pez-Manzanares","sequence":"additional","affiliation":[{"name":"Department of Neurology, Movement Disorders Unit, La Princesa University Hospital , 28006 Madrid, Madrid , Spain"}]},{"given":"McKenzie","family":"Luxmore","sequence":"additional","affiliation":[{"name":"Department of Neurology, Duke University School of Medicine , Durham, NC 27710 , USA"}]},{"given":"Sujeena","family":"Manandhar","sequence":"additional","affiliation":[{"name":"Evergreen Health Neuroscience Institute , Kirkland, WA 98034 , USA"}]},{"given":"Veronique","family":"Marcaud","sequence":"additional","affiliation":[{"name":"Department of Neurology, Saint Joseph Hospital , 75014 Paris, \u00cele-de-France , France"}]},{"given":"Katerina","family":"Markopoulou","sequence":"additional","affiliation":[{"name":"Department of Neurology, NorthShore University HealthSystem , Evanston, IL 60201 , USA"},{"name":"Department of Neurology, Pritzker School of Medicine, University of Chicago , Chicago, IL 60637 , USA"}]},{"given":"Connie","family":"Marras","sequence":"additional","affiliation":[{"name":"The Edmond J Safra Program in Parkinson\u2019s Disease, Toronto Western Hospital, University of Toronto , Toronto, Ontario M5T 2S8 , Canada"}]},{"given":"Mark","family":"McKenzie","sequence":"additional","affiliation":[{"name":"ClinSearch , Chattanooga, TN 37421 , USA"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2907-8667","authenticated-orcid":false,"given":"Michele","family":"Matarazzo","sequence":"additional","affiliation":[{"name":"HM CINAC (Centro Integral de Neurociencias Abarca Campal), Fundaci\u00f3n Hospitales de Madrid, Hospital Universitario HM Puerta del Sur, HM Hospitales , 28938 Madrid, Madrid , Spain"}]},{"given":"Marcelo","family":"Merello","sequence":"additional","affiliation":[{"name":"Movement Disorders Service FLENI, CONICET , C1428 Buenos Aires, Ciudad Aut\u00f3noma de Buenos Aires (CABA) , Argentina"}]},{"given":"Brit","family":"Mollenhauer","sequence":"additional","affiliation":[{"name":"Paracelsus-Elena-Klinik , 34128 Kassel, Hesse , Germany"},{"name":"Department of Neurology, University Medical Centre G\u00f6ttingen , 37075 G\u00f6ttingen, Lower Saxony , Germany"}]},{"given":"John C","family":"Morgan","sequence":"additional","affiliation":[{"name":"Movement & Memory Disorder Programs, Department of Neurology, Augusta University Medical Center , Augusta, GA 30912 , USA"}]},{"given":"Stephen","family":"Mullin","sequence":"additional","affiliation":[{"name":"Institute of Translational and Stratified Medicine, University of Plymouth School of Medicine , Plymouth, Devon PL6 8BU , UK"}]},{"given":"Thomas","family":"Musacchio","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital of W\u00fcrzburg , 97080 W\u00fcrzburg, Bavaria , Germany"}]},{"given":"Bennett","family":"Myers","sequence":"additional","affiliation":[{"name":"DENT Neurologic Institute , Buffalo, NY 14226 , USA"}]},{"given":"Anna","family":"Negrotti","sequence":"additional","affiliation":[{"name":"Department of General and Specialized Medicine, Neurology Unit, University Hospital of Parma , 43126 Parma, Emilia-Romagna , Italy"}]},{"given":"Anette","family":"Nieves","sequence":"additional","affiliation":[{"name":"Renstar Medical Research , Ocala, FL 34471 , USA"}]},{"given":"Zeev","family":"Nitsan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Barzilai Medical Center , 78278 Ashkelon, Southern District , Israel"},{"name":"Faculty of Health Sciences, Ben Gurion University of the Negev , 84105 Beer-Sheva, Southern District , Israel"}]},{"given":"Nader","family":"Oskooilar","sequence":"additional","affiliation":[{"name":"Pharmacology Research Institute , Newport Beach, CA 92660 , USA"}]},{"given":"\u00d6zg\u00fcr","family":"\u00d6ztop-\u00c7akmak","sequence":"additional","affiliation":[{"name":"Department of Neurology, Ko\u00e7 University , 34450 Istanbul, Istanbul , Turkey"}]},{"given":"Gian","family":"Pal","sequence":"additional","affiliation":[{"name":"Department of Neurology, Rutgers Robert Wood Johnson Medical School , New Brunswick, NJ 08901 , USA"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6801-6194","authenticated-orcid":false,"given":"Nicola","family":"Pavese","sequence":"additional","affiliation":[{"name":"Clinical Ageing Research Unit, Newcastle University , Newcastle Upon Tyne, Tyne and Wear NE4 5PL , UK"}]},{"given":"Antonio","family":"Percesepe","sequence":"additional","affiliation":[{"name":"Department of Medicine and Surgery, University of Parma , 43126 Parma, Emilia-Romagna , Italy"}]},{"given":"Tommaso","family":"Piccoli","sequence":"additional","affiliation":[{"name":"Unit of Neurology, Department of Biomedicine, Neurosciences and advanced Diagnostics (BiND), University of Palermo , 90127 Palermo, Sicily , Italy"}]},{"given":"Carolina","family":"Pinto de Souza","sequence":"additional","affiliation":[{"name":"Department of Neurology, S\u00e3o Francisco Hospital, University of S\u00e3o Paulo , 01236-030 S\u00e3o Paulo, S\u00e3o Paulo , Brazil"}]},{"given":"Tino","family":"Prell","sequence":"additional","affiliation":[{"name":"Department of Neurology, Jena University Hospital , 07747 Jena, Thuringia , Germany"},{"name":"Department of Geriatrics, Halle University Hospital , 06120 Halle, Saxony-Anhalt , Germany"}]},{"given":"Mark","family":"Pulera","sequence":"additional","affiliation":[{"name":"Pharmacology Research Institute , Encino, CA 91316 , USA"}]},{"given":"Jason","family":"Raw","sequence":"additional","affiliation":[{"name":"Clinical Research Unit, Pennine Acute Hospitals NHS Trust , Oldham, Greater Manchester OL1 2JH , UK"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9730-9228","authenticated-orcid":false,"given":"Kathrin","family":"Reetz","sequence":"additional","affiliation":[{"name":"Department of Neurology, RWTH Aachen University , 52074 Aachen, North Rhine-Westphalia , Germany"},{"name":"JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Research Centre J\u00fclich , 52428 J\u00fclich, North Rhine-Westphalia , Germany"}]},{"given":"Johnathan","family":"Reiner","sequence":"additional","affiliation":[{"name":"Department of Neurology, Movement Disorders Clinic, Rabin Medical Center-Beilinson Hospital , 49100 Petach Tikva, Central District , Israel"},{"name":"Sackler Faculty of Medicine, Tel Aviv University , 6997801 Tel Aviv, Tel Aviv District , Israel"}]},{"given":"David","family":"Rosenberg","sequence":"additional","affiliation":[{"name":"Pharmacology Research Institute , Los Alamitos, CA 90720 , USA"}]},{"given":"Marta","family":"Ruiz-Lopez","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital Cruces, Biocruces Research Institute , 48903 Barakaldo, Basque Country , Spain"}]},{"given":"Javier","family":"Ruiz Martinez","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital Universitario Donostia , 20014 San Sebastian, Basque Country , Spain"}]},{"given":"Esther","family":"Sammler","sequence":"additional","affiliation":[{"name":"Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, University of Dundee , Dundee DD1 5EH , UK"},{"name":"Molecular and Clinical Medicine, Ninewells Hospital and Medical School, University of Dundee , Dundee DD1 9SY , UK"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9321-5710","authenticated-orcid":false,"given":"Bruno Lopes","family":"Santos-Lobato","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital Ophir Loyola , 66050-380 Belem, Par\u00e1 , Brazil"}]},{"given":"Rachel","family":"Saunders-Pullman","sequence":"additional","affiliation":[{"name":"Department of Neurology, Icahn School of Medicine at Mount Sinai , New York, NY 10003 , USA"}]},{"given":"Ilana","family":"Schlesinger","sequence":"additional","affiliation":[{"name":"Rambam Health Care Campus, Technion Faculty of Medicine , 31096 Haifa, Haifa District , Israel"}]},{"given":"Christine M","family":"Schofield","sequence":"additional","affiliation":[{"name":"Research and Development Unit, Royal Cornwall Hospitals Trust , Truro, Cornwall TR1 3LJ , UK"}]},{"given":"Artur F","family":"Schumacher-Schuh","sequence":"additional","affiliation":[{"name":"Neurological Services, Clinical Hospital of Porto Alegre , 90035-903 Porto Alegre, Rio Grande do Sul , Brazil"}]},{"given":"Burton","family":"Scott","sequence":"additional","affiliation":[{"name":"Department of Neurology, Duke University School of Medicine , Durham, NC 27710 , USA"}]},{"given":"\u00c1ngel","family":"Sesar","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital of Santiago de Compostela , 15706 Santiago de Compostela, Galicia , Spain"}]},{"given":"Stuart J","family":"Shafer","sequence":"additional","affiliation":[{"name":"Vero Beach Neurology and Research Institute , Vero Beach, FL 32960 , USA"}]},{"given":"Ray","family":"Sheridan","sequence":"additional","affiliation":[{"name":"Geriatric Medicine, Royal Devon and Exeter Hospital NHS Foundation Trust , Exeter, Devon EX2 5DW , UK"}]},{"given":"Monty","family":"Silverdale","sequence":"additional","affiliation":[{"name":"Division of Neurology, Salford Royal NHS Foundation Trust, Manchester Academic Health Science Centre, University of Manchester , Manchester, Greater Manchester M6 8HD , UK"}]},{"given":"Rani","family":"Sophia","sequence":"additional","affiliation":[{"name":"Department of Geriatric Medicine, Yeovil Hospital , Yeovil, Somerset BA21 4AT , UK"}]},{"given":"Mariana","family":"Spitz","sequence":"additional","affiliation":[{"name":"Neurology, Pedro Ernesto University Hospital , 20551-030 Rio de Janeiro, Rio de Janeiro , Brazil"}]},{"given":"Pantelis","family":"Stathis","sequence":"additional","affiliation":[{"name":"Department of Neurology, Mediterraneo Hospital , 166 75 Glyfada-Athens, Attica , Greece"}]},{"given":"Fabrizio","family":"Stocchi","sequence":"additional","affiliation":[{"name":"University and Institute for Research and Medical Care, IRCCS San Raffaele , 00166 Rome, Lazio , Italy"}]},{"given":"Michele","family":"Tagliati","sequence":"additional","affiliation":[{"name":"Nuffield Department of Clinical Neurosciences, Division of Clinical Neurology, University of Oxford , Oxford OX3 9DU , UK"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3987-0113","authenticated-orcid":false,"given":"Yen F","family":"Tai","sequence":"additional","affiliation":[{"name":"Division of Medicine and Integrated Care, Charing Cross Hospital, Imperial College Healthcare Trust , London W6 8RF , UK"}]},{"given":"Annelies","family":"Terwecoren","sequence":"additional","affiliation":[{"name":"Department of Neurology, Damiaan Hospital , 8400 Ostend, Flanders , Belgium"}]},{"given":"Sven","family":"Thonke","sequence":"additional","affiliation":[{"name":"Department of Neurology, Klinikum Hanau , 63450 Hanau, Hesse , Germany"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6621-144X","authenticated-orcid":false,"given":"Lars","family":"T\u00f6nges","sequence":"additional","affiliation":[{"name":"Department of Neurology, St. Josef-Hospital and Neurodegeneration Research, Protein Research Unit Ruhr (PURE), Ruhr University Bochum , 44791 Bochum, North Rhine-Westphalia , Germany"},{"name":"Neurodegeneration Research, Protein Research Unit Ruhr (PURE), Ruhr University Bochum , 44791 Bochum, North Rhine-Westphalia , Germany"}]},{"given":"Giulia","family":"Toschi","sequence":"additional","affiliation":[{"name":"Neurology Unit, Neuromotor and Rehabilitation Department, Azienda Unit\u00e0 Sanitaria Locale-IRCCS di Reggio Emilia , 42122 Reggio Emilia, Emilia-Romagna , Italy"}]},{"given":"Vitor","family":"Tumas","sequence":"additional","affiliation":[{"name":"Department of Neurosciences and Behavioral Sciences, Ribeirao Preto Medical School of University of S\u00e3o Paulo , 14049-900 S\u00e3o Paulo, S\u00e3o Paulo , Brazil"}]},{"given":"Peter Paul","family":"Urban","sequence":"additional","affiliation":[{"name":"Department of Neurology, Asklepios Klinik Barmbek , 22307 Hamburg, Hamburg , Germany"}]},{"given":"Laura","family":"Vacca","sequence":"additional","affiliation":[{"name":"University and Institute for Research and Medical Care, IRCCS San Raffaele , 00166 Rome, Lazio , Italy"}]},{"given":"Wim","family":"Vandenberghe","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospitals Leuven , 3000 Leuven, Flanders , Belgium"},{"name":"Department of Neurosciences, KU Leuven , 3000 Leuven, Flanders , Belgium"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0600-6820","authenticated-orcid":false,"given":"Enza Maria","family":"Valente","sequence":"additional","affiliation":[{"name":"Neurogenetics Research Center, IRCCS Mondino Foundation , 27100 Pavia , Italy"},{"name":"Department of Molecular Medicine, University of Pavia , 27100 Pavia, Lombardy , Italy"}]},{"given":"Franco","family":"Valzania","sequence":"additional","affiliation":[{"name":"Neurology Unit, Neuromotor and Rehabilitation Department, Azienda Unit\u00e0 Sanitaria Locale-IRCCS di Reggio Emilia , 42122 Reggio Emilia, Emilia-Romagna , Italy"}]},{"given":"Lydia","family":"Vela-Desojo","sequence":"additional","affiliation":[{"name":"Neurology Unit, Hospital Fundaci\u00f3n Alcorc\u00f3n , 28922 Madrid, Madrid , Spain"}]},{"given":"Caroline","family":"Weill","sequence":"additional","affiliation":[{"name":"Neurogenetics Research Center, IRCCS Mondino Foundation , 27100 Pavia , Italy"}]},{"given":"David","family":"Weise","sequence":"additional","affiliation":[{"name":"Department of Neurology, Asklepios Fachklinikum Stadtroda , 07646 Stadtroda, Thuringia , Germany"},{"name":"Department of Neurology, University of Leipzig , 04103 Leipzig, Saxony , Germany"}]},{"given":"Joanne","family":"Wojcieszek","sequence":"additional","affiliation":[{"name":"School of Medicine, Indiana University , Indianapolis, IN 46202 , USA"}]},{"given":"Martin","family":"Wolz","sequence":"additional","affiliation":[{"name":"Department of Neurology, Elblandklinikum Mei\u00dfen , 01662 Mei\u00dfen, Saxony , Germany"}]},{"given":"Gilad","family":"Yahalom","sequence":"additional","affiliation":[{"name":"Department of Neurology and the Movement Disorders Unit, Shaare Zedek Medical Center , 9103102 Jerusalem, Jerusalem District , Israel"}]},{"given":"Gul","family":"Yalcin-Cakmakli","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medicine, Hacettepe University , 06100 Ankara, Ankara , Turkey"}]},{"given":"Simone","family":"Zittel","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Medical Center Hamburg-Eppendorf , 20246 Hamburg, Hamburg , Germany"}]},{"given":"Yair","family":"Zlotnik","sequence":"additional","affiliation":[{"name":"Neurology Department, Soroka University Medical Center , 84101 Beer Sheva, Southern District , Israel"}]},{"given":"Krishna K","family":"Kandaswamy","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH , 18055 Rostock, Mecklenburg-Vorpommern , Germany"}]},{"given":"Alexander","family":"Balck","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, University Medical Center Schleswig-Holstein , 23538 L\u00fcbeck, Schleswig-Holstein , Germany"},{"name":"Department of Neurology, University of L\u00fcbeck , 23562 L\u00fcbeck, Schleswig-Holstein , Germany"}]},{"given":"Henrike","family":"Hanssen","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, University Medical Center Schleswig-Holstein , 23538 L\u00fcbeck, Schleswig-Holstein , Germany"},{"name":"Department of Neurology, University of L\u00fcbeck , 23562 L\u00fcbeck, Schleswig-Holstein , Germany"}]},{"given":"Max","family":"Borsche","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, University Medical Center Schleswig-Holstein , 23538 L\u00fcbeck, Schleswig-Holstein , Germany"},{"name":"Department of Neurology, University of L\u00fcbeck , 23562 L\u00fcbeck, Schleswig-Holstein , Germany"}]},{"given":"Lara M","family":"Lange","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, University Medical Center Schleswig-Holstein , 23538 L\u00fcbeck, Schleswig-Holstein , Germany"},{"name":"Department of Neurology, University of L\u00fcbeck , 23562 L\u00fcbeck, Schleswig-Holstein , Germany"}]},{"given":"Ilona","family":"Csoti","sequence":"additional","affiliation":[{"name":"Neurology Service, Hospital Universitari de Bellvitge , 08907 Barcelona, Catalonia , Spain"}]},{"given":"Katja","family":"Lohmann","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, University Medical Center Schleswig-Holstein , 23538 L\u00fcbeck, Schleswig-Holstein , Germany"}]},{"given":"Meike","family":"Kasten","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, University Medical Center Schleswig-Holstein , 23538 L\u00fcbeck, Schleswig-Holstein , Germany"}]},{"given":"Norbert","family":"Br\u00fcggemann","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, University Medical Center Schleswig-Holstein , 23538 L\u00fcbeck, Schleswig-Holstein , Germany"},{"name":"Department of Neurology, University of L\u00fcbeck , 23562 L\u00fcbeck, Schleswig-Holstein , Germany"}]},{"given":"Arndt","family":"Rolfs","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH , 18055 Rostock, Mecklenburg-Vorpommern , Germany"},{"name":"Department of Neurology, University of Rostock , 18057 Rostock, Mecklenburg-Vorpommern , Germany"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2102-3431","authenticated-orcid":false,"given":"Christine","family":"Klein","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, University Medical Center Schleswig-Holstein , 23538 L\u00fcbeck, Schleswig-Holstein , Germany"}]},{"given":"Peter","family":"Bauer","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH , 18055 Rostock, Mecklenburg-Vorpommern , Germany"},{"name":"Department of Internal Medicine, University of Rostock , 18057 Rostock, Mecklenburg-Vorpommern , Germany"}]}],"member":"286","published-online":{"date-parts":[[2024,8,1]]},"reference":[{"key":"2024080112571883200_awae188-B1","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1002\/mds.28982","article-title":"Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force\u2014An update","volume":"37","author":"Lange","year":"2022","journal-title":"Mov Disord"},{"key":"2024080112571883200_awae188-B2","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1002\/mds.29288","article-title":"Embracing monogenic Parkinson\u2019s disease: The MJFF global genetic PD cohort","volume":"38","author":"Vollstedt","year":"2023","journal-title":"Mov Disord"},{"key":"2024080112571883200_awae188-B3","doi-asserted-by":"crossref","first-page":"2828","DOI":"10.1093\/brain\/awz191","article-title":"Genetic analysis of Mendelian mutations in a large UK population-based Parkinson\u2019s disease study","volume":"142","author":"Tan","year":"2019","journal-title":"Brain"},{"key":"2024080112571883200_awae188-B4","doi-asserted-by":"crossref","first-page":"1667","DOI":"10.1002\/mds.28112","article-title":"A large-scale full GBA1 gene screening in Parkinson\u2019s disease in The Netherlands","volume":"35","author":"den Heijer","year":"2020","journal-title":"Mov Disord"},{"key":"2024080112571883200_awae188-B5","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1186\/s13024-016-0097-0","article-title":"Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson\u2019s disease","volume":"11","author":"Benitez","year":"2016","journal-title":"Mol Neurodegener"},{"key":"2024080112571883200_awae188-B6","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1002\/mds.27633","article-title":"A clinical and genetic study of early-onset and familial parkinsonism in Taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing","volume":"34","author":"Lin","year":"2019","journal-title":"Mov Disord"},{"key":"2024080112571883200_awae188-B7","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1111\/cge.13124","article-title":"Diagnostic exome sequencing in early-onset Parkinson\u2019s disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson\u2019s disease","volume":"93","author":"Schormair","year":"2018","journal-title":"Clin Genet"},{"key":"2024080112571883200_awae188-B8","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1038\/s41531-022-00408-6","article-title":"A multicenter study of genetic testing for Parkinson\u2019s disease in the clinical setting","volume":"8","author":"Kovanda","year":"2022","journal-title":"NPJ Parkinsons Dis"},{"key":"2024080112571883200_awae188-B9","doi-asserted-by":"crossref","first-page":"2220","DOI":"10.1093\/brain\/awaa167","article-title":"The role of genetics in Parkinson\u2019s disease: A large cohort study in Chinese mainland population","volume":"143","author":"Zhao","year":"2020","journal-title":"Brain"},{"key":"2024080112571883200_awae188-B10","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1002\/mds.28416","article-title":"The Rostock international Parkinson\u2019s disease (ROPAD) study: Protocol and initial findings","volume":"36","author":"Skrahina","year":"2021","journal-title":"Mov Disord"},{"key":"2024080112571883200_awae188-B11","doi-asserted-by":"crossref","first-page":"100532","DOI":"10.1016\/j.ymgmr.2019.100532","article-title":"Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family","volume":"21","author":"Cullufi","year":"2019","journal-title":"Mol Genet Metab Rep"},{"key":"2024080112571883200_awae188-B12","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"2024080112571883200_awae188-B13","doi-asserted-by":"crossref","first-page":"1854","DOI":"10.1002\/mds.28238","article-title":"Age at onset of LRRK2 p.Gly2019Ser is related to environmental and lifestyle factors","volume":"35","author":"L\u00fcth","year":"2020","journal-title":"Mov Disord"},{"key":"2024080112571883200_awae188-B14","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1002\/ana.26094","article-title":"Genomewide association studies of LRRK2 modifiers of Parkinson\u2019s disease","volume":"90","author":"Lai","year":"2021","journal-title":"Ann Neurol"},{"key":"2024080112571883200_awae188-B15","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1016\/S1474-4422(16)30203-4","article-title":"DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: A genome-wide linkage and association study","volume":"15","author":"Trinh","year":"2016","journal-title":"Lancet Neurol"},{"key":"2024080112571883200_awae188-B16","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1002\/mds.26527","article-title":"Nomenclature of genetic movement disorders: Recommendations of the IInternational Parkinson and Movement Disorder Society task force","volume":"31","author":"Marras","year":"2016","journal-title":"Mov Disord"},{"key":"2024080112571883200_awae188-B17","volume-title":"GeneReviews\u00ae","author":"Cook Shukla","year":"2024"},{"key":"2024080112571883200_awae188-B18","doi-asserted-by":"crossref","first-page":"1759","DOI":"10.1042\/BCJ20220161","article-title":"Impact of 100 LRRK2 variants linked to Parkinson\u2019s disease on kinase activity and microtubule binding","volume":"479","author":"Kalogeropulou","year":"2022","journal-title":"Biochem J"},{"key":"2024080112571883200_awae188-B19","doi-asserted-by":"crossref","first-page":"e104","DOI":"10.1212\/NXG.0000000000000104","article-title":"GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis","volume":"2","author":"Mallett","year":"2016","journal-title":"Neurol Genet"},{"key":"2024080112571883200_awae188-B20","first-page":"1048084","article-title":"The association between E326K of GBA and the risk of Parkinson\u2019s disease","volume":"2018","author":"Huang","year":"2018","journal-title":"Parkinsons Dis"},{"key":"2024080112571883200_awae188-B21","doi-asserted-by":"crossref","first-page":"2201","DOI":"10.1002\/mds.28225","article-title":"GBA variants in Parkinson\u2019s disease: Clinical, metabolomic, and multimodal neuroimaging phenotypes","volume":"35","author":"Greuel","year":"2020","journal-title":"Mov Disord"},{"issue":"Pt 9","key":"2024080112571883200_awae188-B22","doi-asserted-by":"crossref","first-page":"2648","DOI":"10.1093\/brain\/awv179","article-title":"Glucocerebrosidase activity in Parkinson\u2019s disease with and without GBA mutations","volume":"138","author":"Alcalay","year":"2015","journal-title":"Brain"},{"key":"2024080112571883200_awae188-B23","doi-asserted-by":"crossref","first-page":"e215845","DOI":"10.1001\/jamanetworkopen.2021.5845","article-title":"Association of dual LRRK2 G2019S and GBA variations with Parkinson disease progression","volume":"4","author":"Ortega","year":"2021","journal-title":"JAMA Netw Open"},{"key":"2024080112571883200_awae188-B24","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.parkreldis.2018.12.014","article-title":"Carriers of both GBA and LRRK2 mutations, compared to carriers of either, in Parkinson\u2019s disease: Risk estimates and genotype-phenotype correlations","volume":"62","author":"Yahalom","year":"2019","journal-title":"Parkinsonism Relat Disord"},{"key":"2024080112571883200_awae188-B25","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1002\/mds.28066","article-title":"A possible modifying effect of the G2019S mutation in the LRRK2 gene on GBA Parkinson\u2019s disease","volume":"35","author":"Omer","year":"2020","journal-title":"Mov Disord"},{"key":"2024080112571883200_awae188-B26","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1212\/WNL.0000000000000641","article-title":"Low clinical diagnostic accuracy of early vs advanced Parkinson disease: Clinicopathologic study","volume":"83","author":"Adler","year":"2014","journal-title":"Neurology"},{"key":"2024080112571883200_awae188-B27","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1002\/mds.27485","article-title":"Importance of low diagnostic accuracy for early Parkinson\u2019s disease","volume":"33","author":"Beach","year":"2018","journal-title":"Mov Disord"},{"key":"2024080112571883200_awae188-B28","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1016\/j.ajhg.2017.04.015","article-title":"Evaluating the clinical validity of gene-disease associations: An evidence-based framework developed by the clinical genome resource","volume":"100","author":"Strande","year":"2017","journal-title":"Am J Hum Genet"},{"key":"2024080112571883200_awae188-B29","doi-asserted-by":"crossref","first-page":"134873","DOI":"10.1016\/j.neulet.2020.134873","article-title":"Reduced plasma progranulin levels are associated with the severity of Parkinson\u2019s disease","volume":"725","author":"Yao","year":"2020","journal-title":"Neurosci Lett"},{"key":"2024080112571883200_awae188-B30","doi-asserted-by":"crossref","first-page":"1606","DOI":"10.1002\/mds.25784","article-title":"DNA methylation of the MAPT gene in Parkinson\u2019s disease cohorts and modulation by vitamin E in vitro","volume":"29","author":"Coupland","year":"2014","journal-title":"Mov Disord"},{"key":"2024080112571883200_awae188-B31","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1038\/s41531-019-0091-7","article-title":"Deep brain stimulation and genetic variability in Parkinson\u2019s disease: A review of the literature","volume":"5","author":"Ligaard","year":"2019","journal-title":"NPJ Parkinsons Dis"},{"key":"2024080112571883200_awae188-B32","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1002\/ana.26302","article-title":"Parkinson disease and subthalamic nucleus deep brain stimulation: Cognitive effects in GBA mutation carriers","volume":"91","author":"Pal","year":"2022","journal-title":"Ann Neurol"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/147\/8\/2652\/58712443\/awae188.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/147\/8\/2652\/58712443\/awae188.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,21]],"date-time":"2024-11-21T22:00:12Z","timestamp":1732226412000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/147\/8\/2652\/7725579"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,1]]},"references-count":32,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2024,8,1]]},"published-print":{"date-parts":[[2024,8,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awae188","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,8]]},"published":{"date-parts":[[2024,8,1]]}}}