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@ARTICLE{Lange:285045,
      author       = {Lange, Lara M and Fang, Zih-Hua and Screven, Laurel and
                      Tan, Ai Huey and Alcalay, Roy N and Amouri, Rim and Bovenzi,
                      Roberta and Fenn, Matilda and Frost, Joshua L I and
                      Jankovic, Joseph and Jasaityte, Simona and Jaunmuktane, Zane
                      and Jeon, Beomseok and Sarmiento, Ignacio Juan Keller and
                      Krüger, Rejko and Kuhlenbäumer, Gregor and Lin, Chin-Hsien
                      and Pavelka, Lukas and Periñan, Maria Teresa and Sassi,
                      Samia Ben and Schirinzi, Tommaso and Shin, Jung Hwan and
                      Shulman, Joshua M and Tay, Yi Wen and Uitti, Ryan and
                      Warner, Tom and Wszolek, Zbigniew K and Wu, Lesley and Wu,
                      Ruey-Meei and Zeuner, Kirsten E and Blauwendraat, Cornelis
                      and Singleton, Andrew and Mencacci, Niccolò E and Morris,
                      Huw R and Lim, Shen-Yang and Lohmann, Katja and Klein,
                      Christine},
      collaboration = {Program, Global Parkinson's Genetics},
      title        = {{R}are but {R}elevant? {A}ssessing {V}ariants in
                      {D}ystonia-{L}inked {G}enes in {P}arkinson's {D}isease.},
      journal      = {Movement disorders},
      volume       = {41},
      number       = {1},
      issn         = {0885-3185},
      address      = {New York, NY},
      publisher    = {Wiley},
      reportid     = {DZNE-2026-00169},
      pages        = {247 - 259},
      year         = {2026},
      abstract     = {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 $(0.54\%)$ 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.},
      keywords     = {Humans / Parkinson Disease: genetics / Parkinson Disease:
                      complications / Male / Female / Middle Aged / Dystonia:
                      genetics / Aged / GTP Cyclohydrolase: genetics / Dystonic
                      Disorders: genetics / Adult / Vesicular Transport Proteins:
                      genetics / GCH1 (Other) / Parkinson's disease (Other) /
                      VPS16 (Other) / dystonia (Other) / monogenic (Other) / GTP
                      Cyclohydrolase (NLM Chemicals) / GCH1 protein, human (NLM
                      Chemicals) / Vesicular Transport Proteins (NLM Chemicals)},
      cin          = {AG Heutink},
      ddc          = {610},
      cid          = {I:(DE-2719)1210002},
      pnm          = {354 - Disease Prevention and Healthy Aging (POF4-354)},
      pid          = {G:(DE-HGF)POF4-354},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:41074695},
      pmc          = {pmc:PMC12882037},
      doi          = {10.1002/mds.70073},
      url          = {https://pub.dzne.de/record/285045},
}