{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T05:01:03Z","timestamp":1792213263049,"version":"4.4.0"},"reference-count":68,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T00:00:00Z","timestamp":1759881600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"NIH HPC Biowulf cluster"},{"DOI":"10.13039\/100030692","name":"Intramural Research Program","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100030692","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012264","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012264","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100023864","name":"NIA","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100023864","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012737","name":"Department of Health and Human Services","doi-asserted-by":"publisher","award":["ZO1 AG000535"],"award-info":[{"award-number":["ZO1 AG000535"]}],"id":[{"id":"10.13039\/100012737","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012737","name":"Department of Health and Human Services","doi-asserted-by":"publisher","award":["AG000949"],"award-info":[{"award-number":["AG000949"]}],"id":[{"id":"10.13039\/100012737","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["ZIANS003154"],"award-info":[{"award-number":["ZIANS003154"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"name":"NIH STRIDES","award":["OT2OD032100"],"award-info":[{"award-number":["OT2OD032100"]}]},{"name":"NIH STRIDES","award":["OT2OD027060"],"award-info":[{"award-number":["OT2OD027060"]}]},{"name":"NIH STRIDES","award":["OT2OD027852"],"award-info":[{"award-number":["OT2OD027852"]}]},{"name":"Global Parkinson\u2019s Genetics Program"},{"DOI":"10.13039\/100018231","name":"Aligning Science Across Parkinson\u2019s","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018231","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Michael J. Fox Foundation for Parkinson\u2019s Research","award":["MJFF-009421\/17483"],"award-info":[{"award-number":["MJFF-009421\/17483"]}]},{"name":"Michael J. Fox Foundation and Aligning Sciences Across Parkinson\u2019s Disease Global Parkinson Genetic Program"},{"DOI":"10.13039\/100000864","name":"Michael J. Fox Foundation","doi-asserted-by":"publisher","award":["MJFF-026283"],"award-info":[{"award-number":["MJFF-026283"]}],"id":[{"id":"10.13039\/100000864","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Alzheimer's Disease Sequencing Project"},{"name":"ADSP","award":["5U01AG076482-03"],"award-info":[{"award-number":["5U01AG076482-03"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Elucidating the genetic contributions to Parkinson\u2019s disease aetiology across diverse ancestries is a critical priority for the development of targeted therapies in a global context. We conducted the largest sequencing characterization of potentially disease-causing, protein-altering and splicing mutations in 710 cases and 11 827 controls from genetically predicted African or African admixed ancestries. We explored copy number variants (CNVs) and runs of homozygosity in prioritized early onset and familial cases. Our study identified rare GBA1 coding variants to be the most frequent mutations among patients with Parkinson\u2019s disease, with a frequency of 4% in our case cohort.<\/jats:p>\n                  <jats:p>Of the 18 GBA1 variants identified, 10 were previously classified as pathogenic or likely pathogenic, four were novel and four were reported as of uncertain clinical significance. The most common known disease-associated GBA1 variants in the Ashkenazi Jewish and European populations, p.Asn409Ser, p.Leu483Pro, p.Thr408Met and p.Glu365Lys, were not identified among the screened Parkinson\u2019s disease cases of African and African admixed ancestry. Similarly, the European and Asian LRRK2 disease-causing mutational spectrum, including LRRK2 p.Gly2019Ser and p.Gly2385Arg genetic risk factors, did not appear to play a major role in Parkinson\u2019s disease aetiology among West African ancestry populations. However, we found three heterozygous novel missense LRRK2 variants of uncertain significance, with two (p.Glu268Ala and p.Arg1538Cys) displaying higher frequencies in the African ancestry population reference datasets. Structural variant analyses revealed the presence of PRKN CNVs with a frequency of 0.7% in African and African admixed cases, with 66% of CNVs detected being compound heterozygous or homozygous in early-onset cases, providing further insights into the genetic underpinnings in early-onset juvenile Parkinson\u2019s disease in these populations. Short tandem repeat analysis also identified ATXN3 CAG repeat expansions within the pathogenic range (CAGn\u202f&amp;gt;\u202f45) in three patients with Parkinson\u2019s disease of African ancestry. Novel genetic variation among screened genes warrants further replication and functional prioritization to unravel their pathogenic potential.<\/jats:p>\n                  <jats:p>Here, we created the most comprehensive genetic catalogue of both known and novel coding and splicing variants potentially linked to Parkinson\u2019s disease aetiology in an underserved population and further conducted global and local ancestry analyses to further explore population-specific effects. Our study has the potential to guide the development of targeted therapies in the emerging era of precision medicine. By expanding genetics research to involve underrepresented populations, we hope that future Parkinson\u2019s disease treatments are not only effective but also inclusive, addressing the needs of diverse ancestral groups.<\/jats:p>","DOI":"10.1093\/brain\/awaf379","type":"journal-article","created":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T11:48:53Z","timestamp":1759837733000},"page":"1537-1553","source":"Crossref","is-referenced-by-count":6,"title":["Large-scale genetic characterization of Parkinson\u2019s disease in the African and African admixed populations"],"prefix":"10.1093","volume":"149","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0931-5247","authenticated-orcid":false,"given":"Fulya","family":"Ak\u00e7imen","sequence":"first","affiliation":[{"name":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly","family":"Paquette","sequence":"additional","affiliation":[{"name":"Center for Alzheimer\u2019s and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Wild Crea","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]},{"name":"Center for Alzheimer\u2019s and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4054-7030","authenticated-orcid":false,"given":"Kathryn","family":"Step","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University , Cape Town 7505 ,","place":["South Africa"]},{"name":"South African Medical Research Council Centre for Tuberculosis Research, Stellenbosch University , Cape Town 7505 ,","place":["South Africa"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Waldo","sequence":"additional","affiliation":[{"name":"Genomic Medicine, Lerner Research Institute, Cleveland Clinic Foundation , Cleveland, OH 44106 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathew J","family":"Koretsky","sequence":"additional","affiliation":[{"name":"Center for Alzheimer\u2019s and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]},{"name":"DataTecnica LLC , Washington, DC 20037 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Saffie-Awad","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s-Gradua\u00e7\u00e3o em Ci\u00eancias M\u00e9dicas, Universidade Federal do Rio Grande do Sul , Porto Alegre 90035 ,","place":["Brazil"]},{"name":"Cl\u00ednica Santa Mar\u00eda , Santiago 7520378 ,","place":["Chile"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Achoru","sequence":"additional","affiliation":[{"name":"Jos University Teaching Hospital , Jos, Plateau State 930105 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Funmilola","family":"Taiwo","sequence":"additional","affiliation":[{"name":"University College Hospital , Ibadan, Oyo State 200005 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Ozomma","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University of Calabar Teaching Hospital , Calabar, Cross River State 540281 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerald","family":"Onwuegbuzie","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University of Abuja , Gwagwalada, Federal Capital Territory 902101 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzieh","family":"Khani","sequence":"additional","affiliation":[{"name":"Center for Alzheimer\u2019s and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Spencer","family":"Grant","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]},{"name":"Center for Alzheimer\u2019s and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lukman","family":"Owolabi","sequence":"additional","affiliation":[{"name":"Department of Medicine, Bayero University , Kano, Kano State 700001 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiamaka","family":"Okereke","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Nigeria Teaching Hospital , Ituku-Ozalla, Enugu State 402109 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olajumoke","family":"Oshinaike","sequence":"additional","affiliation":[{"name":"Department of Medicine, Lagos State University College of Medicine , Ikeja, Lagos State P.M.B. 0001 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Iwuozo","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Benue State University , Makurdi, Benue State 970001 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8424-1917","authenticated-orcid":false,"given":"Suleyman Can","family":"Akerman","sequence":"additional","affiliation":[{"name":"Brain Science Institute, Johns Hopkins University School of Medicine , Baltimore, MD 21205 ,","place":["USA"]},{"name":"Department of Neurology, Johns Hopkins University School of Medicine , Baltimore, MD 21205 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul Suhwan","family":"Lee","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shyngle","family":"Oyakhire","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, National Hospital Abuja , Abuja, Federal Capital Territory 900103 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nosakhare","family":"Osemwegie","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Port Harcourt Teaching Hospital , Port Harcourt, Rivers State 500004 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kensuke","family":"Daida","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]},{"name":"Center for Alzheimer\u2019s and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]},{"name":"Department of Neurology, Faculty of Medicine, Juntendo University , Tokyo 113-8421 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sani","family":"Abubakar","sequence":"additional","affiliation":[{"name":"Department of Medicine, Ahmadu Bello University , Zaria, Kaduna State 800001 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adedunni","family":"Olusanya","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Therapeutics and Toxicology, College of Medicine University of Lagos , Idi-araba, Lagos State P.M.B 12003 ,","place":["Nigeria"]},{"name":"R-Jolad Hospital , Gbagada, Lagos 100254 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariam","family":"Isayan","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, National Institute of Health , Yerevan 0051 ,","place":["Armenia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Alvarez","sequence":"additional","affiliation":[{"name":"Center for Alzheimer\u2019s and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rami","family":"Traurig","sequence":"additional","affiliation":[{"name":"Center for Alzheimer\u2019s and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adebimpe","family":"Ogunmodede","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Medicine, Federal Medical Center , Owo, Ondo State 341101 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Samuel","sequence":"additional","affiliation":[{"name":"University of Maiduguri Teaching Hospital , Maiduguri, Borno State 600230 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary B","family":"Makarious","sequence":"additional","affiliation":[{"name":"Center for Alzheimer\u2019s and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]},{"name":"DataTecnica LLC , Washington, DC 20037 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fadimatu","family":"Sa\u2019ad","sequence":"additional","affiliation":[{"name":"Federal Teaching Hospital , Gombe, Gombe State 760253 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rashidat","family":"Olanigan","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Medicine, Lagos State University Teaching Hospital , Ikeja, Lagos State 101233 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"Levine","sequence":"additional","affiliation":[{"name":"Center for Alzheimer\u2019s and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]},{"name":"DataTecnica LLC , Washington, DC 20037 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewere Marie","family":"Ogbimi","sequence":"additional","affiliation":[{"name":"Department of Medicine, Faculty of Clinical Medicine, Delta State University, Abraka , Delta State 330105 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0637-3671","authenticated-orcid":false,"given":"Dan","family":"Vitale","sequence":"additional","affiliation":[{"name":"Center for Alzheimer\u2019s and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]},{"name":"DataTecnica LLC , Washington, DC 20037 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis","family":"Odiase","sequence":"additional","affiliation":[{"name":"Department of Medicine, College of Medical Sciences, University of Benin , Benin City, Edo State 300242 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis","family":"Ojini","sequence":"additional","affiliation":[{"name":"Department of Medicine, Ahmadu Bello University , Zaria, Kaduna State 800001 ,","place":["Nigeria"]},{"name":"Department of Medicine, Neurology Unit, Lagos University Teaching Hospital , Idi-araba, Lagos State 102215 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olanike","family":"Odeniyi","sequence":"additional","affiliation":[{"name":"General Hospital , Lagos Island, Lagos State 102273 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zih-Hua","family":"Fang","sequence":"additional","affiliation":[{"name":"German Center for Neurodegenerative Diseases, DZNE , T\u00fcbingen 72076 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nkechi","family":"Obianozie","sequence":"additional","affiliation":[{"name":"University of Abuja Teaching Hospital , Gwagwalada, Federal Capital Territory 902101 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah A","family":"Hall","sequence":"additional","affiliation":[{"name":"Department of Neurological Sciences, Rush University Medical Center , Chicago, IL 60612 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernest","family":"Nwazor","sequence":"additional","affiliation":[{"name":"Department of Medicine, Rivers State University Teaching Hospital , Port Harcourt, Rivers State 500101 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tao","family":"Xie","sequence":"additional","affiliation":[{"name":"University of Chicago Medicine, Department of Neurology , Chicago, IL 60637 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Nwaokorie","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Therapeutics and Toxicology, College of Medicine University of Lagos , Idi-araba, Lagos State P.M.B 12003 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahesh","family":"Padmanaban","sequence":"additional","affiliation":[{"name":"University of Chicago Medicine, Department of Neurology , Chicago, IL 60637 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Nwani","sequence":"additional","affiliation":[{"name":"Internal Medicine, Faculty of Medicine, Nnamdi Azikiwe University Teaching Hospital , Nnewi, Anambra State 435101 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ejaz A","family":"Shamim","sequence":"additional","affiliation":[{"name":"Human Motor Control Section, National Institute of Neurological Disorders and Stroke , Bethesda, MD 20892 ,","place":["USA"]},{"name":"Department of Neurology, Mid-Atlantic Permanente Medical Group , Largo, MD 20774 ,","place":["USA"]},{"name":"Kaiser Permanente, Mid-Atlantic Permanente Research Institute , Washington, DC 20002 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alero","family":"Nnama","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Port Harcourt Teaching Hospital , Port Harcourt, Rivers State 500004 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2921-8348","authenticated-orcid":false,"given":"David","family":"Standaert","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Alabama at Birmingham , Birmingham, AL 35294 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morenikeji","family":"Komolafe","sequence":"additional","affiliation":[{"name":"Department of Medicine, Obafemi Awolowo University , Ile-Ife, Osun State 220282 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marissa","family":"Dean","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Alabama at Birmingham , Birmingham, AL 35294 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Godwin","family":"Osaigbovo","sequence":"additional","affiliation":[{"name":"Jos University Teaching Hospital , Jos, Plateau State 930105 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Disbrow","sequence":"additional","affiliation":[{"name":"Department of Neurology, LSU Health Shreveport, LSU Health Shreveport Center for Brain Health , Shreveport, LA 71103 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ismaila","family":"Ishola","sequence":"additional","affiliation":[{"name":"Department of Medicine, College of Medical Sciences, University of Benin , Benin City, Edo State 300242 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashley","family":"Rawls","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Florida College of Medicine, Gainesville, Florida 32611 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Imarhiagbe","sequence":"additional","affiliation":[{"name":"Department of Medicine, Faculty of Clinical Medicine, Delta State University, Abraka , Delta State 330105 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shivika","family":"Chandra","sequence":"additional","affiliation":[{"name":"Department of Neurology, The University of Texas Health Science Center at Houston , Houston, TX 20036 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Erameh","sequence":"additional","affiliation":[{"name":"Department of Medicine, Irrua Specialist Teaching Hospital , Irrua, Edo State 312107 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa","family":"Hinson","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of South Carolina , Charleston, SC 29425 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi","family":"Louie","sequence":"additional","affiliation":[{"name":"Department of Clinical Research, Michael J Fox Foundation for Parkinson\u2019s Research , New York, NY 10163 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Idowu","sequence":"additional","affiliation":[{"name":"Department of Medicine, Obafemi Awolowo University Teaching Hospitals Complex , Ile-Ife, Osun State 220282 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Solle","sequence":"additional","affiliation":[{"name":"Department of Clinical Research, Michael J Fox Foundation for Parkinson\u2019s Research , New York, NY 10163 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3835-0976","authenticated-orcid":false,"given":"Scott A","family":"Norris","sequence":"additional","affiliation":[{"name":"Department of Neurology, Washington University in St Louis , St Louis, MO 63130 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdullahi","family":"Ibrahim","sequence":"additional","affiliation":[{"name":"Federal University of Health Sciences Teaching Hospital , Azare, Bauchi State 751102 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camilla","family":"Kilbane","sequence":"additional","affiliation":[{"name":"University Hospital in Cleveland Medical Center, Case Western Reserve University (UH) , Cleveland, OH 44106 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gauthaman","family":"Sukumar","sequence":"additional","affiliation":[{"name":"Department of Anatomy, Physiology and Genetics, School of Medicine, Uniformed Services , Bethesda, MD 20814 ,","place":["USA"]},{"name":"Center for Military Precision Health, Uniformed Services University of the Health Sciences , Bethesda, MD 20814 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa M","family":"Shulman","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Maryland , Baltimore, MD 21201 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Ezuduemoih","sequence":"additional","affiliation":[{"name":"Department of Medicine, Neurology Unit, Lagos University Teaching Hospital , Idi-araba, Lagos State 102215 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Staisch","sequence":"additional","affiliation":[{"name":"Ochsner Clinic Foundation , New Orleans, LA 70124 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Breaux","sequence":"additional","affiliation":[{"name":"Ochsner Clinic Foundation , New Orleans, LA 70124 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clifton","family":"Dalgard","sequence":"additional","affiliation":[{"name":"Henry M Jackson Foundation for the Advancement of Military Medicine, Uniformed Services University of the Health Sciences , Bethesda, MD 20814 ,","place":["USA"]},{"name":"The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences , Bethesda, MD 20814 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin R","family":"Foster","sequence":"additional","affiliation":[{"name":"Department of Neurology, Washington University in St Louis , St Louis, MO 63130 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abiodun","family":"Bello","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Medicine, University of Ilorin Teaching Hospital , Ilorin, Kwara State 234031 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Ameri","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of South Carolina , Charleston, SC 29425 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8117-742X","authenticated-orcid":false,"given":"Raquel","family":"Real","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]},{"name":"UCL Movement Disorders Centre, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica","family":"Ikwenu","sequence":"additional","affiliation":[{"name":"Department of Medicine, Neurology Unit, Lagos University Teaching Hospital , Idi-araba, Lagos State 102215 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5473-3774","authenticated-orcid":false,"given":"Huw R","family":"Morris","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]},{"name":"National Hospital for Neurology and Neurosurgery , London WC1N 3BG ,","place":["UK"]},{"name":"Department of Neurology, Royal Free Hospital , London NW3 2QG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roosevelt","family":"Anyanwu","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Therapeutics and Toxicology, College of Medicine University of Lagos , Idi-araba, Lagos State P.M.B 12003 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"Furr Stimming","sequence":"additional","affiliation":[{"name":"Department of Neurology, The University of Texas Health Science Center at Houston , Houston, TX 20036 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8003-4029","authenticated-orcid":false,"given":"Kimberley","family":"Billingsley","sequence":"additional","affiliation":[{"name":"Center for Alzheimer\u2019s and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wemimo","family":"Alaofin","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Ilorin , Ilorin, Kwara State 240001 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Alvarez Jerez","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]},{"name":"Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osigwe","family":"Agabi","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Therapeutics and Toxicology, College of Medicine University of Lagos , Idi-araba, Lagos State P.M.B 12003 ,","place":["Nigeria"]},{"name":"Department of Medicine, Neurology Unit, Lagos University Teaching Hospital , Idi-araba, Lagos State 102215 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dena G","family":"Hernandez","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rufus","family":"Akinyemi","sequence":"additional","affiliation":[{"name":"Neuroscience and Ageing Research Unit, Institute for Advanced Medical Research and Training, College of Medicine, University of Ibadan , Ibadan, 200212 Oyo State ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sampath","family":"Arepalli","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laksh","family":"Malik","sequence":"additional","affiliation":[{"name":"Center for Alzheimer\u2019s and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond","family":"Owolabi","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Medicine, Federal Medical Center , Owo, Ondo State 341101 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yakub","family":"Nyandaiti","sequence":"additional","affiliation":[{"name":"University of Maiduguri Teaching Hospital , Maiduguri, Borno State 600230 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hampton L","family":"Leonard","sequence":"additional","affiliation":[{"name":"Center for Alzheimer\u2019s and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]},{"name":"DataTecnica LLC , Washington, DC 20037 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kolawole","family":"Wahab","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Ilorin , Ilorin, Kwara State 240001 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oladunni","family":"Abiodun","sequence":"additional","affiliation":[{"name":"General Hospital , Isolo, Lagos State 100263 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6412-3777","authenticated-orcid":false,"given":"Carlos F","family":"Hernandez","sequence":"additional","affiliation":[{"name":"Universidad del Desarrollo, Centro de Gen\u00e9tica y Gen\u00f3mica, Facultad de Medicina Cl\u00ednica Alemana , Santiago 7610658 ,","place":["Chile"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Abdulai","sequence":"additional","affiliation":[{"name":"University of Abuja Teaching Hospital , Gwagwalada, Federal Capital Territory 902101 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8982-7885","authenticated-orcid":false,"given":"Hirotaka","family":"Iwaki","sequence":"additional","affiliation":[{"name":"Center for Alzheimer\u2019s and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]},{"name":"DataTecnica LLC , Washington, DC 20037 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soraya","family":"Bardien","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University , Cape Town 7505 ,","place":["South Africa"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Klein","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics and Department of Neurology, University of L\u00fcbeck and University Hospital Schleswig-Holstein , L\u00fcbeck 23562 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Hardy","sequence":"additional","affiliation":[{"name":"Reta Lila Weston Institute of Neurological Studies, University College London , London WC1N 1PJ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2866-7777","authenticated-orcid":false,"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamalini Ghosh","family":"Galvelis","sequence":"additional","affiliation":[{"name":"Parkinson\u2019s Foundation , New York, NY 10018 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mike A","family":"Nalls","sequence":"additional","affiliation":[{"name":"Center for Alzheimer\u2019s and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]},{"name":"DataTecnica LLC , Washington, DC 20037 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nabila","family":"Dahodwala","sequence":"additional","affiliation":[{"name":"Department of Neurology, Parkinson's Disease and Movement Disorder Center, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Whitley","family":"Aamodt","sequence":"additional","affiliation":[{"name":"Department of Neurology, Parkinson's Disease and Movement Disorder Center, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Hill","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Cincinnati , Cincinnati, OH 45221 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Espay","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Cincinnati , Cincinnati, OH 45221 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stewart","family":"Factor","sequence":"additional","affiliation":[{"name":"Department of Neurology, Emory University , Atlanta, GA 30322 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chantale","family":"Branson","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Morehouse College , Atlanta, GA 30314 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9358-8111","authenticated-orcid":false,"given":"Cornelis","family":"Blauwendraat","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]},{"name":"Center for Alzheimer\u2019s and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew B","family":"Singleton","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]},{"name":"Center for Alzheimer\u2019s and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oluwadamilola","family":"Ojo","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Therapeutics and Toxicology, College of Medicine University of Lagos , Idi-araba, Lagos State P.M.B 12003 ,","place":["Nigeria"]},{"name":"Department of Medicine, Neurology Unit, Lagos University Teaching Hospital , Idi-araba, Lagos State 102215 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lana M","family":"Chahine","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Pittsburgh , Pittsburgh, PA 15213 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Njideka","family":"Okubadejo","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Therapeutics and Toxicology, College of Medicine University of Lagos , Idi-araba, Lagos State P.M.B 12003 ,","place":["Nigeria"]},{"name":"Department of Medicine, Neurology Unit, Lagos University Teaching Hospital , Idi-araba, Lagos State 102215 ,","place":["Nigeria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Bandres-Ciga","sequence":"additional","affiliation":[{"name":"Center for Alzheimer\u2019s and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,10,8]]},"reference":[{"key":"2026050508321264800_awaf379-B1","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1002\/ana.26905","article-title":"Towards a global view of Parkinson\u2019s disease genetics","volume":"95","author":"Khani","year":"2024","journal-title":"Ann Neurol"},{"key":"2026050508321264800_awaf379-B2","doi-asserted-by":"publisher","author":"Okunoye","DOI":"10.1101\/2023.07.07.23292392"},{"key":"2026050508321264800_awaf379-B3","doi-asserted-by":"crossref","first-page":"1973","DOI":"10.1002\/mds.23163","article-title":"LRRK2 variation and Parkinson\u2019s disease in African Americans","volume":"25","author":"Ross","year":"2010","journal-title":"Mov Disord"},{"key":"2026050508321264800_awaf379-B4","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.jns.2011.05.031","article-title":"Association of DRD2 and DRD3 polymorphisms with Parkinson\u2019s disease in a multiethnic consortium","volume":"307","author":"McGuire","year":"2011","journal-title":"J Neurol Sci"},{"key":"2026050508321264800_awaf379-B5","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/S0304-3940(03)00635-9","article-title":"The saitohin \u201cQ7R\u201d polymorphism and tau haplotype in multi-ethnic Alzheimer disease and Parkinson\u2019s disease cohorts","volume":"347","author":"Clark","year":"2003","journal-title":"Neurosci Lett"},{"key":"2026050508321264800_awaf379-B6","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1016\/S1474-4422(23)00283-1","article-title":"Identification of genetic risk loci and causal insights associated with Parkinson\u2019s disease in African and African admixed populations: A genome-wide association study","volume":"22","author":"Rizig","year":"2023","journal-title":"Lancet Neurol"},{"key":"2026050508321264800_awaf379-B7","doi-asserted-by":"crossref","first-page":"1955","DOI":"10.1038\/s41594-024-01423-2","article-title":"African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1","volume":"31","author":"\u00c1lvarez Jerez","year":"2024","journal-title":"Nat Struct Mol Biol."},{"key":"2026050508321264800_awaf379-B8","doi-asserted-by":"crossref","first-page":"156.e11","DOI":"10.1016\/j.neurobiolaging.2019.12.011","article-title":"Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson\u2019s disease","volume":"88","author":"Mahungu","year":"2020","journal-title":"Neurobiol Aging"},{"key":"2026050508321264800_awaf379-B9","doi-asserted-by":"crossref","first-page":"2971","DOI":"10.1002\/mds.28803","article-title":"Screening of GBA mutations in Nigerian patients with Parkinson\u2019s disease","volume":"36","author":"Milanowski","year":"2021","journal-title":"Mov Disord"},{"key":"2026050508321264800_awaf379-B10","doi-asserted-by":"crossref","first-page":"1559","DOI":"10.1002\/mds.29042","article-title":"Black and African American connections to Parkinson\u2019s disease study: Addressing missing diversity in Parkinson\u2019s disease genetics","volume":"37","author":"Bandres-Ciga","year":"2022","journal-title":"Mov Disord"},{"key":"2026050508321264800_awaf379-B11","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1002\/mds.28494","article-title":"GP2: The global Parkinson\u2019s genetics program","volume":"36","author":"Global Parkinson\u2019s Genetics Program","year":"2021","journal-title":"Mov Disord"},{"key":"2026050508321264800_awaf379-B12","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1002\/mds.28123","article-title":"The Nigeria Parkinson disease registry: Process, profile, and prospects of a collaborative project","volume":"35","author":"Ojo","year":"2020","journal-title":"Mov Disord"},{"key":"2026050508321264800_awaf379-B13","doi-asserted-by":"crossref","first-page":"2668","DOI":"10.1093\/brain\/awae142","article-title":"Parkinson\u2019s disease variant detection and disclosure: PD GENEration, a North American study","volume":"147","author":"Cook","year":"2024","journal-title":"Brain"},{"key":"2026050508321264800_awaf379-B14","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1056\/NEJMsr1809937","article-title":"The \u201call of US\u201d research program","volume":"381","author":"All of Us Research Program Investigators","year":"2019","journal-title":"N Engl J Med"},{"key":"2026050508321264800_awaf379-B15","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1038\/s41586-018-0579-z","article-title":"The UK biobank resource with deep phenotyping and genomic data","volume":"562","author":"Bycroft","year":"2018","journal-title":"Nature"},{"key":"2026050508321264800_awaf379-B16","doi-asserted-by":"crossref","first-page":"2652","DOI":"10.1093\/brain\/awae188","article-title":"Relevance of genetic testing in the gene-targeted trial era: The Rostock Parkinson\u2019s disease study","volume":"147","author":"Westenberger","year":"2024","journal-title":"Brain"},{"key":"2026050508321264800_awaf379-B17","doi-asserted-by":"crossref","first-page":"1510","DOI":"10.1001\/archneur.64.10.1510","article-title":"Importance of low-range CAG expansion and CAA interruption in SCA2 parkinsonism","volume":"64","author":"Kim","year":"2007","journal-title":"Arch Neurol"},{"key":"2026050508321264800_awaf379-B18","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1001\/archneur.58.2.296","article-title":"Spinocerebellar ataxia type 3 phenotypically resembling Parkinson disease in a black family","volume":"58","author":"Gwinn-Hardy","year":"2001","journal-title":"Arch Neurol"},{"key":"2026050508321264800_awaf379-B19","doi-asserted-by":"crossref","first-page":"1385","DOI":"10.1212\/WNL.0b013e3181a18876","article-title":"Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism","volume":"72","author":"Kim","year":"2009","journal-title":"Neurology"},{"key":"2026050508321264800_awaf379-B20","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1186\/s12883-024-03914-7","article-title":"The black and African American connections to Parkinson\u2019s disease (BLAAC PD) study protocol","volume":"24","author":"Chahine","year":"2024","journal-title":"BMC Neurol"},{"key":"2026050508321264800_awaf379-B21","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1002\/mds.20697","article-title":"Global versus factor-related impression of severity in Parkinson\u2019s disease: A new clinimetric index (CISI-PD)","volume":"21","author":"Mart\u00ednez-Mart\u00edn","year":"2006","journal-title":"Mov Disord"},{"key":"2026050508321264800_awaf379-B22","doi-asserted-by":"crossref","first-page":"1591","DOI":"10.1002\/mds.26424","article-title":"MDS clinical diagnostic criteria for Parkinson\u2019s disease: MDS-PD clinical diagnostic criteria","volume":"30","author":"Postuma","year":"2015","journal-title":"Mov Disord"},{"key":"2026050508321264800_awaf379-B23","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1136\/jnnp.55.3.181","article-title":"Accuracy of clinical diagnosis of idiopathic Parkinson\u2019s disease: A clinico-pathological study of 100 cases","volume":"55","author":"Hughes","year":"1992","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2026050508321264800_awaf379-B24","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"2026050508321264800_awaf379-B25","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1038\/s42003-022-03610-7","article-title":"Comprehensive short and long read sequencing analysis for the gaucher and Parkinson\u2019s disease-associated GBA gene","volume":"5","author":"Toffoli","year":"2022","journal-title":"Commun Biol"},{"key":"2026050508321264800_awaf379-B26","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1101\/gr.183483.114","article-title":"Actionable exomic incidental findings in 6503 participants: Challenges of variant classification","volume":"25","author":"Amendola","year":"2015","journal-title":"Genome Res"},{"key":"2026050508321264800_awaf379-B27","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat Genet"},{"key":"2026050508321264800_awaf379-B28","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/S1474-4422(19)30287-X","article-title":"The genetic architecture of Parkinson\u2019s disease","volume":"19","author":"Blauwendraat","year":"2020","journal-title":"Lancet Neurol"},{"key":"2026050508321264800_awaf379-B29","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1038\/31508","article-title":"Association of missense and 5\u2019-splice-site mutations in tau with the inherited dementia FTDP-17","volume":"393","author":"Hutton","year":"1998","journal-title":"Nature"},{"key":"2026050508321264800_awaf379-B30","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/jnc.13385","article-title":"The relationship between glucocerebrosidase mutations and Parkinson disease","volume":"139","author":"Migdalska-Richards","year":"2016","journal-title":"J Neurochem"},{"key":"2026050508321264800_awaf379-B31","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1002\/mds.21892","article-title":"Glucocerebrosidase gene mutations are associated with Parkinson\u2019s disease in southern Italy","volume":"23","author":"De Marco","year":"2008","journal-title":"Mov Disord"},{"key":"2026050508321264800_awaf379-B32","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.neulet.2009.01.029","article-title":"Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece","volume":"452","author":"Kalinderi","year":"2009","journal-title":"Neurosci Lett"},{"key":"2026050508321264800_awaf379-B33","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1001\/archneur.64.7.1056","article-title":"Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients","volume":"64","author":"Tan","year":"2007","journal-title":"Arch Neurol"},{"key":"2026050508321264800_awaf379-B34","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1001\/archneurol.2009.72","article-title":"Mutations for Gaucher disease confer high susceptibility to Parkinson disease","volume":"66","author":"Mitsui","year":"2009","journal-title":"Arch Neurol"},{"key":"2026050508321264800_awaf379-B35","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1016\/j.parkreldis.2019.01.030","article-title":"The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru","volume":"63","author":"Velez-Pardo","year":"2019","journal-title":"Parkinsonism Relat Disord"},{"key":"2026050508321264800_awaf379-B36","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1212\/WNL.0b013e318207b01e","article-title":"Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in north Africa","volume":"76","author":"Lesage","year":"2011","journal-title":"Neurology"},{"key":"2026050508321264800_awaf379-B37","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1002\/mds.29314","article-title":"Classification of GBA1 variants in Parkinson\u2019s disease: The GBA1-PD browser","volume":"38","author":"Parlar","year":"2023","journal-title":"Mov Disord"},{"key":"2026050508321264800_awaf379-B38","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1016\/j.parkreldis.2010.09.003","article-title":"LRRK2 g2019S mutation in Parkinson\u2019s disease: A neuropsychological and neuropsychiatric study in a large Algerian cohort","volume":"16","author":"Belarbi","year":"2010","journal-title":"Parkinsonism Relat Disord"},{"key":"2026050508321264800_awaf379-B39","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1212\/WNL.0b013e3181f39a2e","article-title":"Low disease risk in relatives of north African lrrk2 Parkinson disease patients","volume":"75","author":"Troiano","year":"2010","journal-title":"Neurology"},{"key":"2026050508321264800_awaf379-B40","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1089\/gtmb.2011.0016","article-title":"G2019s mutation of the leucine-rich repeat kinase 2 gene in a cohort of Egyptian patients with Parkinson\u2019s disease","volume":"15","author":"Hashad","year":"2011","journal-title":"Genet Test Mol Biomarkers"},{"key":"2026050508321264800_awaf379-B41","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.parkreldis.2007.02.001","article-title":"A founding LRRK2 haplotype shared by Tunisian, US, European and middle eastern families with Parkinson\u2019s disease","volume":"14","author":"Warren","year":"2008","journal-title":"Parkinsonism Relat Disord"},{"key":"2026050508321264800_awaf379-B42","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1002\/mds.21180","article-title":"Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American caucasian Parkinson\u2019s disease families","volume":"22","author":"Ishihara","year":"2007","journal-title":"Mov Disord"},{"key":"2026050508321264800_awaf379-B43","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1016\/S1474-4422(08)70116-9","article-title":"LRRK2 Gly2019Ser penetrance in arab-berber patients from Tunisia: A case-control genetic study","volume":"7","author":"Hulihan","year":"2008","journal-title":"Lancet Neurol"},{"key":"2026050508321264800_awaf379-B44","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1136\/jnnp.2009.185231","article-title":"A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson\u2019s disease","volume":"81","author":"Nishioka","year":"2010","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2026050508321264800_awaf379-B45","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1007\/s10048-019-00588-z","article-title":"Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson\u2019s disease","volume":"20","author":"du Toit","year":"2019","journal-title":"Neurogenetics"},{"key":"2026050508321264800_awaf379-B46","doi-asserted-by":"crossref","first-page":"594927","DOI":"10.3389\/fneur.2020.594927","article-title":"Early-onset Parkinson disease screening in patients from Nigeria","volume":"11","author":"Milanowski","year":"2020","journal-title":"Front Neurol"},{"key":"2026050508321264800_awaf379-B47","doi-asserted-by":"crossref","first-page":"623","DOI":"10.7196\/SAMJ.2016.v106i6.10340","article-title":"Clinical findings and genetic screening for copy number variation mutations in a cohort of South African patients with Parkinson\u2019s disease","volume":"106","author":"Mahne","year":"2016","journal-title":"S Afr Med J"},{"key":"2026050508321264800_awaf379-B48","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1016\/j.parkreldis.2012.02.018","article-title":"Analysis of LRRK2, SNCA, parkin, PINK1, and DJ-1 in Zambian patients with Parkinson\u2019s disease","volume":"18","author":"Yonova-Doing","year":"2012","journal-title":"Parkinsonism Relat Disord"},{"key":"2026050508321264800_awaf379-B49","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1002\/ana.22400","article-title":"Acid \u03b2-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter \u03b1-synuclein processing","volume":"69","author":"Cullen","year":"2011","journal-title":"Ann Neurol"},{"key":"2026050508321264800_awaf379-B50","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.cell.2011.06.001","article-title":"Gaucher disease glucocerebrosidase and \u03b1-synuclein form a bidirectional pathogenic loop in synucleinopathies","volume":"146","author":"Mazzulli","year":"2011","journal-title":"Cell"},{"key":"2026050508321264800_awaf379-B51","doi-asserted-by":"crossref","first-page":"4055","DOI":"10.1073\/pnas.1323285111","article-title":"Parkinson disease-associated mutation R1441H in LRRK2 prolongs the \u201cactive state\u201d of its GTPase domain","volume":"111","author":"Liao","year":"2014","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2026050508321264800_awaf379-B52","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1007\/s10048-009-0229-6","article-title":"Analysis of exon dosage using MLPA in South African Parkinson\u2019s disease patients","volume":"11","author":"Keyser","year":"2010","journal-title":"Neurogenetics"},{"key":"2026050508321264800_awaf379-B53","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1007\/s00702-011-0591-z","article-title":"Identification of Parkinson\u2019s disease candidate genes using CAESAR and screening of MAPT and SNCAIP in South African Parkinson\u2019s disease patients","volume":"118","author":"Keyser","year":"2011","journal-title":"J Neural Transm (Vienna)"},{"key":"2026050508321264800_awaf379-B54","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.parkreldis.2008.04.005","article-title":"Molecular analysis of the parkin gene in South African patients diagnosed with Parkinson\u2019s disease","volume":"15","author":"Bardien","year":"2009","journal-title":"Parkinsonism Relat Disord"},{"key":"2026050508321264800_awaf379-B55","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.parkreldis.2011.09.022","article-title":"Mutations in the parkin gene are a minor cause of Parkinson\u2019s disease in the South African population","volume":"18","author":"Haylett","year":"2012","journal-title":"Parkinsonism Relat Disord"},{"key":"2026050508321264800_awaf379-B56","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.bbrc.2010.06.049","article-title":"Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson\u2019s disease","volume":"398","author":"Keyser","year":"2010","journal-title":"Biochem Biophys Res Commun"},{"key":"2026050508321264800_awaf379-B57","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.parkreldis.2020.02.014","article-title":"PRKN-related familial Parkinson\u2019s disease: First molecular confirmation from east Africa","volume":"73","author":"Dekker","year":"2020","journal-title":"Parkinsonism Relat Disord"},{"key":"2026050508321264800_awaf379-B58","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1002\/mds.26524","article-title":"Double homozygous mutations (R275W and M432\u2005V) in the ParkinGene associated with late-onset Parkinson\u2019s disease","volume":"31","author":"Carr","year":"2016","journal-title":"Mov Disord"},{"key":"2026050508321264800_awaf379-B59","doi-asserted-by":"crossref","first-page":"567","DOI":"10.3389\/fneur.2017.00567","article-title":"Mutation analysis of consanguineous Moroccan patients with Parkinson\u2019s disease combining microarray and gene panel","volume":"8","author":"Bouhouche","year":"2017","journal-title":"Front Neurol"},{"key":"2026050508321264800_awaf379-B60","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/S1353-8020(03)00016-6","article-title":"Autosomal recessive parkinsonism linked to parkin gene in a Tunisian family. Clinical, genetic and pathological study","volume":"9","author":"Gouider-Khouja","year":"2003","journal-title":"Parkinsonism Relat Disord"},{"key":"2026050508321264800_awaf379-B61","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1093\/brain\/awl005","article-title":"Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and north Africa","volume":"129","author":"Ib\u00e1\u00f1ez","year":"2006","journal-title":"Brain"},{"key":"2026050508321264800_awaf379-B62","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1212\/01.wnl.0000323812.40708.1f","article-title":"PINK1 mutations and parkinsonism","volume":"71","author":"Ishihara-Paul","year":"2008","journal-title":"Neurology"},{"key":"2026050508321264800_awaf379-B63","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1016\/S0140-6736(05)60746-5","article-title":"Homozygous deletions in parkin gene in European and north African families with autosomal recessive juvenile parkinsonism. The European consortium on genetic susceptibility in Parkinson\u2019s disease and the French Parkinson\u2019s disease genetics study group","volume":"352","author":"L\u00fccking","year":"1998","journal-title":"Lancet"},{"key":"2026050508321264800_awaf379-B64","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1186\/s12883-017-0933-z","article-title":"Early onset Parkinson\u2019s disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: A case report","volume":"17","author":"Norman","year":"2017","journal-title":"BMC Neurol"},{"key":"2026050508321264800_awaf379-B65","doi-asserted-by":"crossref","first-page":"2077","DOI":"10.1093\/brain\/awab456","article-title":"Heterozygous PRKN mutations are common but do not increase the risk of Parkinson\u2019s disease","volume":"145","author":"Zhu","year":"2022","journal-title":"Brain"},{"key":"2026050508321264800_awaf379-B66","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1136\/jmg.2007.051854","article-title":"Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls","volume":"45","author":"Lesage","year":"2008","journal-title":"J Med Genet"},{"key":"2026050508321264800_awaf379-B67","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1002\/mds.28299","article-title":"Analysis of heterozygous PRKN variants and copy-number variations in Parkinson\u2019s disease","volume":"36","author":"Yu","year":"2021","journal-title":"Mov Disord"},{"key":"2026050508321264800_awaf379-B68","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1126\/science.1172257","article-title":"The genetic structure and history of Africans and African Americans","volume":"324","author":"Tishkoff","year":"2009","journal-title":"Science"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/brain\/advance-article-pdf\/doi\/10.1093\/brain\/awaf379\/64544330\/awaf379.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/149\/5\/1537\/64544330\/awaf379.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/149\/5\/1537\/64544330\/awaf379.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T12:32:30Z","timestamp":1777984350000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/149\/5\/1537\/8277363"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,8]]},"references-count":68,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2025,10,8]]},"published-print":{"date-parts":[[2026,5,5]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awaf379","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,5]]},"published":{"date-parts":[[2025,10,8]]}}}