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000285045 037__ $$aDZNE-2026-00169
000285045 041__ $$aEnglish
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000285045 1001_ $$aLange, Lara M$$b0
000285045 245__ $$aRare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
000285045 260__ $$aNew York, NY$$bWiley$$c2026
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000285045 520__ $$aDystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear.The aim was to assess the frequency of dystonia-linked pathogenic variants in PD.We screened sequencing data from 15,684 individuals (8272 PD, 3200 atypical parkinsonism, and 4212 unaffected) from the Global Parkinson's Genetics Program (GP2) and Accelerating Medicines Partnership-Parkinson's Disease (AMP-PD) for variants in genes linked to isolated dystonia, dystonia-parkinsonism, and myoclonus-dystonia.Pathogenic variants were identified only in PD patients. Forty-five PD individuals (0.54%) carried 26 distinct (likely) pathogenic variants in nine dystonia-linked genes, most frequently in GCH1, followed by VPS16.Though rare, pathogenic variants in dystonia-linked genes are present in clinically and pathologically diagnosed PD. Our results reinforce GCH1 as a PD-relevant gene with clinical implications, whereas variants identified in other genes are rare and of uncertain relation to the PD phenotype. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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000285045 650_7 $$2Other$$aGCH1
000285045 650_7 $$2Other$$aParkinson's disease
000285045 650_7 $$2Other$$aVPS16
000285045 650_7 $$2Other$$adystonia
000285045 650_7 $$2Other$$amonogenic
000285045 650_7 $$0EC 3.5.4.16$$2NLM Chemicals$$aGTP Cyclohydrolase
000285045 650_7 $$0EC 3.5.4.16$$2NLM Chemicals$$aGCH1 protein, human
000285045 650_7 $$2NLM Chemicals$$aVesicular Transport Proteins
000285045 650_2 $$2MeSH$$aHumans
000285045 650_2 $$2MeSH$$aParkinson Disease: genetics
000285045 650_2 $$2MeSH$$aParkinson Disease: complications
000285045 650_2 $$2MeSH$$aMale
000285045 650_2 $$2MeSH$$aFemale
000285045 650_2 $$2MeSH$$aMiddle Aged
000285045 650_2 $$2MeSH$$aDystonia: genetics
000285045 650_2 $$2MeSH$$aAged
000285045 650_2 $$2MeSH$$aGTP Cyclohydrolase: genetics
000285045 650_2 $$2MeSH$$aDystonic Disorders: genetics
000285045 650_2 $$2MeSH$$aAdult
000285045 650_2 $$2MeSH$$aVesicular Transport Proteins: genetics
000285045 7001_ $$0P:(DE-2719)9001362$$aFang, Zih-Hua$$b1$$udzne
000285045 7001_ $$aScreven, Laurel$$b2
000285045 7001_ $$00000-0002-2979-3839$$aTan, Ai Huey$$b3
000285045 7001_ $$aAlcalay, Roy N$$b4
000285045 7001_ $$aAmouri, Rim$$b5
000285045 7001_ $$aBovenzi, Roberta$$b6
000285045 7001_ $$aFenn, Matilda$$b7
000285045 7001_ $$aFrost, Joshua L I$$b8
000285045 7001_ $$aJankovic, Joseph$$b9
000285045 7001_ $$aJasaityte, Simona$$b10
000285045 7001_ $$aJaunmuktane, Zane$$b11
000285045 7001_ $$00000-0003-2491-3544$$aJeon, Beomseok$$b12
000285045 7001_ $$aSarmiento, Ignacio Juan Keller$$b13
000285045 7001_ $$aKrüger, Rejko$$b14
000285045 7001_ $$aKuhlenbäumer, Gregor$$b15
000285045 7001_ $$00000-0001-8566-7573$$aLin, Chin-Hsien$$b16
000285045 7001_ $$aPavelka, Lukas$$b17
000285045 7001_ $$aPeriñan, Maria Teresa$$b18
000285045 7001_ $$aSassi, Samia Ben$$b19
000285045 7001_ $$00000-0002-2517-6278$$aSchirinzi, Tommaso$$b20
000285045 7001_ $$00000-0003-4182-3612$$aShin, Jung Hwan$$b21
000285045 7001_ $$aShulman, Joshua M$$b22
000285045 7001_ $$00000-0002-9319-0768$$aTay, Yi Wen$$b23
000285045 7001_ $$aUitti, Ryan$$b24
000285045 7001_ $$00000-0001-6195-6995$$aWarner, Tom$$b25
000285045 7001_ $$00000-0001-5487-1053$$aWszolek, Zbigniew K$$b26
000285045 7001_ $$aWu, Lesley$$b27
000285045 7001_ $$00000-0002-4947-5467$$aWu, Ruey-Meei$$b28
000285045 7001_ $$aZeuner, Kirsten E$$b29
000285045 7001_ $$0P:(DE-2719)2810837$$aBlauwendraat, Cornelis$$b30
000285045 7001_ $$aSingleton, Andrew$$b31
000285045 7001_ $$aMencacci, Niccolò E$$b32
000285045 7001_ $$00000-0002-5473-3774$$aMorris, Huw R$$b33
000285045 7001_ $$aLim, Shen-Yang$$b34
000285045 7001_ $$0P:(DE-2719)9000191$$aLohmann, Katja$$b35
000285045 7001_ $$aKlein, Christine$$b36
000285045 7001_ $$aProgram, Global Parkinson's Genetics$$b37$$eCollaboration Author
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