帕金森病
医学
协议(科学)
神经科学
疾病
物理医学与康复
老年学
心理学
病理
替代医学
作者
Volha Skrahina,Hanaa Gaber,Eva‐Juliane Vollstedt,Toni M. Förster,Tatiana Usnich,Filipa Curado,Norbert Brüggemann,Jefri J Paul,Xenia Bogdanovic,Selen Zülbahar,Maria Olmedillas,Snezana Skobalj,Najim Ameziane,Peter Bauer,Ilona Csóti,Natalia Koleva‐Alazeh,Ulrike Grittner,Ana Westenberger,Meike Kasten,Christian Beetz
摘要
ABSTRACT Background Genetic stratification of Parkinson's disease (PD) patients facilitates gene‐tailored research studies and clinical trials. The objective of this study was to describe the design of and the initial data from the Rostock International Parkinson's Disease (ROPAD) study, an epidemiological observational study aiming to genetically characterize ~10,000 participants. Methods Recruitment criteria included (1) clinical diagnosis of PD, (2) relative of participant with a reportable LRRK2 variant, or (3) North African Berber or Ashkenazi Jew. DNA analysis involved up to 3 successive steps: (1) variant ( LRRK2 ) and gene ( GBA ) screening, (2) panel sequencing of 68 PD‐linked genes, and (3) genome sequencing. Results Initial data based on the first 1360 participants indicated that the ROPAD enrollment strategy revealed a genetic diagnostic yield of ~14% among a PD cohort from tertiary referral centers. Conclusions The ROPAD screening protocol is feasible for high‐throughput genetic characterization of PD participants and subsequent prioritization for gene‐focused research efforts and clinical trials. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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