biostudies-literatureHopfner FNIA NIH HHSDeutsche Gesellschaft für Parkinson und BewegungsstörungenMedical Research CouncilNINDS NIH HHSElse Kröner-Fresenius-Stiftung2110-2121https://www.ebi.ac.uk/biostudies/studies/S-EPMC10052809biostudies-literatureUnknown37(10)<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</hMovement disorders : official journal of the Movement Disorder SocietyCommon Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy.PMC10052809U54 NS110435U24 NS120854P30 AG010124P50 AG005136U01 AG016976P30 AG066509U24 AG021886U19 AG062418P30 AG072977U01 AG032984K08 AG065463P01 AG066597U24 AG041689P50 NS053488P30 AG072979MR/L016451/1Molina Porcel LHalliday GPeters ARuf VCTrojanowski JQStadelmann CMuller UNeumann MAlzheimer's Disease Genetics ConsortiumSchellenberg GDBeach THollerhage MNewell KLMatej RHelbig IWszolek ZKIrwin DJDesplats PHoglinger GAguzzi APendziwiat MXie TMcKeith IHopfner FEvsyukov VGhetti BWhite CLFlanagan MESelvackadunco SCheshire WPUitti RJMollenhauer BTrenkwalder CMarti MJDickson DLee EBKovacs GGSvenningsson PMackenzie IReimann RThomas AHuitinga IKuhlenbaumer GFranke ARajput Avan Deerlin VTietz AKGearing MRabano AKoga SGelpi ESeeley WHerms JScott WKSimuni TGlass JDFrosch MPKeene DCXimelis TGrinberg LTRoss OAAttems JEllinghaus DTroakes CYebenes JLevin JDeuschl GDuyckaerts CMclean Cvan Gerpen JAPantelyat ABeller AfalseCommon Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy.<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</h2022-01-01T00:00:00Z2022 Oct2026-05-29T01:57:56.953Z2025-04-04T03:00:49.567ZS-EPMC100528093599713110.1002/mds.29164