TY - JOUR
T1 - The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings
AU - ROPAD Study Group
AU - Skrahina, Volha
AU - Gaber, Hanaa
AU - Vollstedt, Eva Juliane
AU - Förster, Toni M.
AU - Usnich, Tatiana
AU - Curado, Filipa
AU - Brüggemann, Norbert
AU - Paul, Jefri
AU - Bogdanovic, Xenia
AU - Zülbahar, Selen
AU - Olmedillas, Maria
AU - Skobalj, Snezana
AU - Ameziane, Najim
AU - Bauer, Peter
AU - Csoti, Ilona
AU - Koleva-Alazeh, Natalia
AU - Grittner, Ulrike
AU - Westenberger, Ana
AU - Kasten, Meike
AU - Beetz, Christian
AU - Klein, Christine
AU - Rolfs, Arndt
N1 - Publisher Copyright:
© 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
PY - 2021/4/1
Y1 - 2021/4/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85104275746&partnerID=8YFLogxK
UR - https://www.mendeley.com/catalogue/f26e899a-1b96-3c6e-b04d-b70edbadf713/
U2 - 10.1002/mds.28416
DO - 10.1002/mds.28416
M3 - Journal articles
C2 - 33314351
AN - SCOPUS:85104275746
SN - 0885-3185
VL - 36
SP - 1005
EP - 1010
JO - Movement disorders : official journal of the Movement Disorder Society
JF - Movement disorders : official journal of the Movement Disorder Society
IS - 4
ER -
