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000165139 1001_ $$00000-0001-6524-0281$$aHopfner, Franziska$$b0
000165139 245__ $$aCommon Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy.
000165139 260__ $$aNew York, NY$$bWiley$$c2022
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000165139 520__ $$aMultiple 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.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.We studied common genetic variations in Multiple System Atrophy cases (N = 731) and controls (N = 2898).The most strongly disease-associated markers were rs16859966 on chromosome 3, rs7013955 on chromosome 8, and rs116607983 on chromosome 4 with P-values below 5 × 10-6 , all of which were supported by at least one additional genotyped and several imputed single nucleotide polymorphisms. The genes closest to the chromosome 3 locus are ZIC1 and ZIC4 encoding the zinc finger proteins of cerebellum 1 and 4 (ZIC1 and ZIC4).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.
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000165139 650_7 $$2Other$$aZIC1
000165139 650_7 $$2Other$$aZIC4
000165139 650_7 $$2Other$$aautopsy-confirmed
000165139 650_7 $$2Other$$agenome-wide association study
000165139 650_7 $$2Other$$amultiple system atrophy
000165139 650_2 $$2MeSH$$aAutoantibodies
000165139 650_2 $$2MeSH$$aAutopsy
000165139 650_2 $$2MeSH$$aGenome-Wide Association Study
000165139 650_2 $$2MeSH$$aHumans
000165139 650_2 $$2MeSH$$aMultiple System Atrophy: genetics
000165139 650_2 $$2MeSH$$aMultiple System Atrophy: pathology
000165139 650_2 $$2MeSH$$aNerve Tissue Proteins: genetics
000165139 650_2 $$2MeSH$$aOlivopontocerebellar Atrophies
000165139 650_2 $$2MeSH$$aStriatonigral Degeneration
000165139 650_2 $$2MeSH$$aTranscription Factors: genetics
000165139 650_2 $$2MeSH$$aTranscription Factors: metabolism
000165139 650_2 $$2MeSH$$aalpha-Synuclein: metabolism
000165139 7001_ $$aTietz, Anja K$$b1
000165139 7001_ $$aRuf, Viktoria C$$b2
000165139 7001_ $$00000-0003-4813-756X$$aRoss, Owen A$$b3
000165139 7001_ $$00000-0001-8868-9700$$aKoga, Shunsuke$$b4
000165139 7001_ $$aDickson, Dennis$$b5
000165139 7001_ $$aAguzzi, Adriano$$b6
000165139 7001_ $$aAttems, Johannes$$b7
000165139 7001_ $$aBeach, Thomas$$b8
000165139 7001_ $$aBeller, Allison$$b9
000165139 7001_ $$aCheshire, William P$$b10
000165139 7001_ $$avan Deerlin, Vivianna$$b11
000165139 7001_ $$aDesplats, Paula$$b12
000165139 7001_ $$0P:(DE-2719)9000934$$aDeuschl, Günther$$b13$$udzne
000165139 7001_ $$aDuyckaerts, Charles$$b14
000165139 7001_ $$aEllinghaus, David$$b15
000165139 7001_ $$0P:(DE-2719)9001126$$aEvsyukov, Valentin$$b16$$udzne
000165139 7001_ $$aFlanagan, Margaret Ellen$$b17
000165139 7001_ $$0P:(DE-2719)9001139$$aFranke, Andre$$b18$$udzne
000165139 7001_ $$aFrosch, Matthew P$$b19
000165139 7001_ $$aGearing, Marla$$b20
000165139 7001_ $$00000-0003-2948-4187$$aGelpi, Ellen$$b21
000165139 7001_ $$avan Gerpen, Jay A$$b22
000165139 7001_ $$aGhetti, Bernardino$$b23
000165139 7001_ $$aGlass, Jonathan D$$b24
000165139 7001_ $$aGrinberg, Lea T$$b25
000165139 7001_ $$00000-0003-0422-8398$$aHalliday, Glenda$$b26
000165139 7001_ $$aHelbig, Ingo$$b27
000165139 7001_ $$0P:(DE-2719)2813308$$aHöllerhage, Matthias$$b28$$udzne
000165139 7001_ $$aHuitinga, Inge$$b29
000165139 7001_ $$00000-0002-5599-5098$$aIrwin, David John$$b30
000165139 7001_ $$aKeene, Dirk C$$b31
000165139 7001_ $$aKovacs, Gabor G$$b32
000165139 7001_ $$aLee, Edward B$$b33
000165139 7001_ $$0P:(DE-2719)2811659$$aLevin, Johannes$$b34$$udzne
000165139 7001_ $$aMartí, Maria J$$b35
000165139 7001_ $$0P:(DE-2719)9000939$$aMackenzie, Ian R.A.$$b36$$udzne
000165139 7001_ $$aMcKeith, Ian$$b37
000165139 7001_ $$aMclean, Catriona$$b38
000165139 7001_ $$0P:(DE-2719)9001340$$aMollenhauer, Brit$$b39$$udzne
000165139 7001_ $$0P:(DE-2719)2810592$$aNeumann, Manuela$$b40$$udzne
000165139 7001_ $$aNewell, Kathy L$$b41
000165139 7001_ $$00000-0002-6427-7485$$aPantelyat, Alex$$b42
000165139 7001_ $$aPendziwiat, Manuela$$b43
000165139 7001_ $$aPeters, Annette$$b44
000165139 7001_ $$aMolina Porcel, Laura$$b45
000165139 7001_ $$aRabano, Alberto$$b46
000165139 7001_ $$aMatěj, Radoslav$$b47
000165139 7001_ $$aRajput, Alex$$b48
000165139 7001_ $$aRajput, Ali$$b49
000165139 7001_ $$aReimann, Regina$$b50
000165139 7001_ $$aScott, William K$$b51
000165139 7001_ $$aSeeley, William$$b52
000165139 7001_ $$aSelvackadunco, Sashika$$b53
000165139 7001_ $$aSimuni, Tanya$$b54
000165139 7001_ $$0P:(DE-2719)9000922$$aStadelmann, Christine$$b55$$udzne
000165139 7001_ $$00000-0001-6727-3802$$aSvenningsson, Per$$b56
000165139 7001_ $$aThomas, Alan$$b57
000165139 7001_ $$aTrenkwalder, Claudia$$b58
000165139 7001_ $$aTroakes, Claire$$b59
000165139 7001_ $$0P:(DE-2719)9000946$$aTrojanowski, John Q$$b60$$udzne
000165139 7001_ $$aUitti, Ryan J$$b61
000165139 7001_ $$aWhite, Charles L$$b62
000165139 7001_ $$aWszolek, Zbigniew K$$b63
000165139 7001_ $$aXie, Tao$$b64
000165139 7001_ $$aXimelis, Teresa$$b65
000165139 7001_ $$aYebenes, Justo$$b66
000165139 7001_ $$aConsortium, Alzheimer's Disease Genetics$$b67$$eCollaboration Author
000165139 7001_ $$aMüller, Ulrich$$b68
000165139 7001_ $$aSchellenberg, Gerard D$$b69
000165139 7001_ $$0P:(DE-2719)2810441$$aHerms, Jochen$$b70$$udzne
000165139 7001_ $$aKuhlenbäumer, Gregor$$b71
000165139 7001_ $$0P:(DE-2719)2811373$$aHöglinger, Günter$$b72$$eLast author$$udzne
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