{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Hopfner F"],"funding":["NIA NIH HHS","Deutsche Gesellschaft für Parkinson und Bewegungsstörungen","Medical Research Council","NINDS NIH HHS","Else Kröner-Fresenius-Stiftung"],"pagination":["2110-2121"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10052809"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["37(10)"],"pubmed_abstract":["<h4>Background</h4>Multiple System Atrophy is a rare neurodegenerative disease with alpha-synuclein aggregation in glial cytoplasmic inclusions and either predominant olivopontocerebellar atrophy or striatonigral degeneration, leading to dysautonomia, parkinsonism, and cerebellar ataxia. One prior genome-wide association study in mainly clinically diagnosed patients with Multiple System Atrophy failed to identify genetic variants predisposing for the disease.<h4>Objective</h4>Since the clinical diagnosis of Multiple System Atrophy yields a high rate of misdiagnosis when compared to the neuropathological gold standard, we studied only autopsy-confirmed cases.<h4>Methods</h4>We studied common genetic variations in Multiple System Atrophy cases (N = 731) and controls (N = 2898).<h4>Results</h"],"journal":["Movement disorders : official journal of the Movement Disorder Society"],"pubmed_title":["Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy."],"pmcid":["PMC10052809"],"funding_grant_id":["U54 NS110435","U24 NS120854","P30 AG010124","P50 AG005136","U01 AG016976","P30 AG066509","U24 AG021886","U19 AG062418","P30 AG072977","U01 AG032984","K08 AG065463","P01 AG066597","U24 AG041689","P50 NS053488","P30 AG072979","MR/L016451/1"],"pubmed_authors":["Molina Porcel L","Halliday G","Peters A","Ruf VC","Trojanowski JQ","Stadelmann C","Muller U","Neumann M","Alzheimer's Disease Genetics Consortium","Schellenberg GD","Beach T","Hollerhage M","Newell KL","Matej R","Helbig I","Wszolek ZK","Irwin DJ","Desplats P","Hoglinger G","Aguzzi A","Pendziwiat M","Xie T","McKeith I","Hopfner F","Evsyukov V","Ghetti B","White CL","Flanagan ME","Selvackadunco S","Cheshire WP","Uitti RJ","Mollenhauer B","Trenkwalder C","Marti MJ","Dickson D","Lee EB","Kovacs GG","Svenningsson P","Mackenzie I","Reimann R","Thomas A","Huitinga I","Kuhlenbaumer G","Franke A","Rajput A","van Deerlin V","Tietz AK","Gearing M","Rabano A","Koga S","Gelpi E","Seeley W","Herms J","Scott WK","Simuni T","Glass JD","Frosch MP","Keene DC","Ximelis T","Grinberg LT","Ross OA","Attems J","Ellinghaus D","Troakes C","Yebenes J","Levin J","Deuschl G","Duyckaerts C","Mclean C","van Gerpen JA","Pantelyat A","Beller A"],"additional_accession":[]},"is_claimable":false,"name":"Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy.","description":"<h4>Background</h4>Multiple System Atrophy is a rare neurodegenerative disease with alpha-synuclein aggregation in glial cytoplasmic inclusions and either predominant olivopontocerebellar atrophy or striatonigral degeneration, leading to dysautonomia, parkinsonism, and cerebellar ataxia. One prior genome-wide association study in mainly clinically diagnosed patients with Multiple System Atrophy failed to identify genetic variants predisposing for the disease.<h4>Objective</h4>Since the clinical diagnosis of Multiple System Atrophy yields a high rate of misdiagnosis when compared to the neuropathological gold standard, we studied only autopsy-confirmed cases.<h4>Methods</h4>We studied common genetic variations in Multiple System Atrophy cases (N = 731) and controls (N = 2898).<h4>Results</h","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Oct","modification":"2026-05-29T01:57:56.953Z","creation":"2025-04-04T03:00:49.567Z"},"accession":"S-EPMC10052809","cross_references":{"pubmed":["35997131"],"doi":["10.1002/mds.29164"]}}