%0 Journal Article
%A Lange, Lara M
%A Fang, Zih-Hua
%A Screven, Laurel
%A Tan, Ai Huey
%A Alcalay, Roy N
%A Amouri, Rim
%A Bovenzi, Roberta
%A Fenn, Matilda
%A Frost, Joshua L I
%A Jankovic, Joseph
%A Jasaityte, Simona
%A Jaunmuktane, Zane
%A Jeon, Beomseok
%A Sarmiento, Ignacio Juan Keller
%A Krüger, Rejko
%A Kuhlenbäumer, Gregor
%A Lin, Chin-Hsien
%A Pavelka, Lukas
%A Periñan, Maria Teresa
%A Sassi, Samia Ben
%A Schirinzi, Tommaso
%A Shin, Jung Hwan
%A Shulman, Joshua M
%A Tay, Yi Wen
%A Uitti, Ryan
%A Warner, Tom
%A Wszolek, Zbigniew K
%A Wu, Lesley
%A Wu, Ruey-Meei
%A Zeuner, Kirsten E
%A Blauwendraat, Cornelis
%A Singleton, Andrew
%A Mencacci, Niccolò E
%A Morris, Huw R
%A Lim, Shen-Yang
%A Lohmann, Katja
%A Klein, Christine
%T Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
%J Movement disorders
%V 41
%N 1
%@ 0885-3185
%C New York, NY
%I Wiley
%M DZNE-2026-00169
%P 247 - 259
%D 2026
%X Dystonia 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
%K Humans
%K Parkinson Disease: genetics
%K Parkinson Disease: complications
%K Male
%K Female
%K Middle Aged
%K Dystonia: genetics
%K Aged
%K GTP Cyclohydrolase: genetics
%K Dystonic Disorders: genetics
%K Adult
%K Vesicular Transport Proteins: genetics
%K GCH1 (Other)
%K Parkinson's disease (Other)
%K VPS16 (Other)
%K dystonia (Other)
%K monogenic (Other)
%K GTP Cyclohydrolase (NLM Chemicals)
%K GCH1 protein, human (NLM Chemicals)
%K Vesicular Transport Proteins (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:41074695
%2 pmc:PMC12882037
%R 10.1002/mds.70073
%U https://pub.dzne.de/record/285045