Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy.
Franziska HopfnerAnja K TietzViktoria C RufOwen A RossShunsuke KogaDennis DicksonAdriano AguzziJohannes AttemsThomas BeachAllison BellerWilliam P CheshireVivianna van DeerlinPaula DesplatsGuenther DeuschlCharles DuyckaertsDavid EllinghausValentin EvsyukovMargaret Ellen FlanaganAndre FrankeMatthew P FroschMarla GearingEllen GelpíJay A van GerpenBernardino GhettiJonathan D GlassLea T GrinbergGlenda M HallidayIngo HelbigMatthias HöllerhageInge HuitingaDavid John IrwinDirk C KeeneGabor G KovacsEdward B LeeJohannes LevinMaria J MartíIan MackenzieIan McKeithCatriona McleanBrit MollenhauerManuela NeumannKathy L NewellAlexander Y PantelyatManuela PendziwiatAnnette PetersLaura Molina PorcelAlberto RabanoRadoslav MatějAlex RajputAli RajputRegina ReimannWilliam K ScottWilliam SeeleySashika SelvackaduncoTanya SimuniChristine StadelmannPer SvenningssonAlan ThomasClaudia TrenkwalderClaire TroakesJohn Q TrojanowskiRyan J UittiCharles L WhiteZbigniew K WszolekTao XieTeresa XimelisJusto Yebenesnull nullUlrich MüllerGerard D SchellenbergJochen HermsGregor KuhlenbäumerGünter U HöglingerPublished in: Movement disorders : official journal of the Movement Disorder Society (2022)
Since mutations of ZIC1 and ZIC4 and paraneoplastic autoantibodies directed against ZIC4 are associated with severe cerebellar dysfunction, we conducted immunohistochemical analyses in brain tissue of the frontal cortex and the cerebellum from 24 Multiple System Atrophy patients. Strong immunohistochemical expression of ZIC4 was detected in a subset of neurons of the dentate nucleus in all healthy controls and in patients with striatonigral degeneration, whereas ZIC4-immunoreactive neurons were significantly reduced inpatients with olivopontocerebellar atrophy. These findings point to a potential ZIC4-mediated vulnerability of neurons in Multiple System Atrophy. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Keyphrases
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- randomized controlled trial
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- systematic review
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