TY  - JOUR
AU  - Lange, Lara M
AU  - Fang, Zih-Hua
AU  - Screven, Laurel
AU  - Tan, Ai Huey
AU  - Alcalay, Roy N
AU  - Amouri, Rim
AU  - Bovenzi, Roberta
AU  - Fenn, Matilda
AU  - Frost, Joshua L I
AU  - Jankovic, Joseph
AU  - Jasaityte, Simona
AU  - Jaunmuktane, Zane
AU  - Jeon, Beomseok
AU  - Sarmiento, Ignacio Juan Keller
AU  - Krüger, Rejko
AU  - Kuhlenbäumer, Gregor
AU  - Lin, Chin-Hsien
AU  - Pavelka, Lukas
AU  - Periñan, Maria Teresa
AU  - Sassi, Samia Ben
AU  - Schirinzi, Tommaso
AU  - Shin, Jung Hwan
AU  - Shulman, Joshua M
AU  - Tay, Yi Wen
AU  - Uitti, Ryan
AU  - Warner, Tom
AU  - Wszolek, Zbigniew K
AU  - Wu, Lesley
AU  - Wu, Ruey-Meei
AU  - Zeuner, Kirsten E
AU  - Blauwendraat, Cornelis
AU  - Singleton, Andrew
AU  - Mencacci, Niccolò E
AU  - Morris, Huw R
AU  - Lim, Shen-Yang
AU  - Lohmann, Katja
AU  - Klein, Christine
TI  - Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
JO  - Movement disorders
VL  - 41
IS  - 1
SN  - 0885-3185
CY  - New York, NY
PB  - Wiley
M1  - DZNE-2026-00169
SP  - 247 - 259
PY  - 2026
AB  - 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
KW  - Humans
KW  - Parkinson Disease: genetics
KW  - Parkinson Disease: complications
KW  - Male
KW  - Female
KW  - Middle Aged
KW  - Dystonia: genetics
KW  - Aged
KW  - GTP Cyclohydrolase: genetics
KW  - Dystonic Disorders: genetics
KW  - Adult
KW  - Vesicular Transport Proteins: genetics
KW  - GCH1 (Other)
KW  - Parkinson's disease (Other)
KW  - VPS16 (Other)
KW  - dystonia (Other)
KW  - monogenic (Other)
KW  - GTP Cyclohydrolase (NLM Chemicals)
KW  - GCH1 protein, human (NLM Chemicals)
KW  - Vesicular Transport Proteins (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:41074695
C2  - pmc:PMC12882037
DO  - DOI:10.1002/mds.70073
UR  - https://pub.dzne.de/record/285045
ER  -