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Abstracts from the International Congress of Parkinson’s and Movement Disorders.

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Articles tagged "Parkin"

  • MDS Virtual Congress 2020

    Evaluation of Cortical Excitability in Huntington’s Disease and Parkinson’s Disease

    N. Togashi, M. Hamada, Y. Shirota, T. Toda, K. Nishiyama, K. Hasegwa (Sagamihara, Japan)

    Objective: To evaluate the cortical excitability difference in Huntington's disease (HD) and Parkinson's disease (PD) using paired-pulse transcranial magnetic stimulation (TMS). Background: TMS is useful…
  • MDS Virtual Congress 2020

    Repetitive transcranial magnetic stimulation (rTMS) fails to improve cognition in patients with Parkinson’s disease: a meta-analysis of randomized controlled trials

    P. He, L. Wang, J. Chen, Y. Zhang, Y. Gao, Q. Xu, Y. Qiu, H. Cai, Y. Li, Z. Huang, S. Feng, J. Zhao, G. Ma, K. Nie, L. Wang (Guangzhou, China)

    Objective: This study aimed to evaluate the effects of rTMS for improving cognition of PD patients. Background: Up to 20%–50% of patients with Parkinson’s disease…
  • MDS Virtual Congress 2020

    Moderately frequent and private variants in PRKN are associated with late-onset Parkinson’s disease

    F. Hopfner, S.M Müller, SS. Szymczak, O. Junge, L. Tittmann, S. May, K. Lohmann, G. Grallert, B. Schormair, J. Winkelmann, B. Mollenhauer, C. Trenkwalder, W. Maetzler, D. Berg, M. Kasten, C. Klein, G. Hoeglinger, T. Gasser, G. Deuschl, A. Franke, M. Krawczak, A. Dempfle, G. Kuhlenbäumer (Hannover, Germany)

    Objective: We hypothesized that heterozygosity for rare coding variants in PRKN, PINK1 or PARK7 might also represent a risk factor for sporadic late-onset PD.[4] Background:…
  • MDS Virtual Congress 2020

    Whole-exome sequencing in early-onset Parkinson’s disease among ethnic Chinese

    N. Li, L. Wang, J. Zhang, E. Tan, J. Li, J. Peng, L. Duan, C. Chen, D. Zhou, L. He, R. Peng (Chengdu, China)

    Objective: The objectives of this study were to assess the genetic and clinical features of early-onset Parkinson’s disease (EOPD) among ethnic Chinese from mainland China.…
  • MDS Virtual Congress 2020

    PARK2 p.Ala82Glu variant is not associated with Parkinson’s disease

    L. Milanowski, B. Broadway, F. Fiesel, D. Hoffman-Zacharska, D. Koziorowski, A. Friedman, J. Slawek, O. Ross, W. Springer, Z. Wszolek (Jacksonville, FL, USA)

    Objective: The aim of the study was to analyze potential pathogenicity of the PARK2 p.Ala82Glu mutation, by functional studies of Parkin in the mitophagy paradigm…
  • MDS Virtual Congress 2020

    Interest of multiplex ligation-dependent probe amplification assay to identify pathogenic mutations in Parkinson’s disease patients

    E. Mutez, M. Swiderski, L. Defebvre, M.C Chartier-Harlin, V. Huin (Lille, France)

    Objective: To evaluate the interest of the MLPA (Multiplex Ligation-dependent Probe Amplification) commercially available kit in the genetic testing in Parkinson’s disease (PD). Background: PD…
  • MDS Virtual Congress 2020

    The First-Ever CNV Analysis in Latin American Parkinson’s Disease Patients

    E.I Sarihan, E. Pérez-Palma, L.M Niestroj, D. Loesch, M. Seyfi, M. Inca-Martinez, A. Horimoto, M. Cornejo-Olivas, L. Torres, P. Mazzetti, C. Cosentino, E. Dieguez, V. Raggio, A. Lescano, V. Tumas, V. Borges, H.B Ferraz, C. Rieder, A. Schumacher-Schuh, B.L Santos-Lobato, C. Velez-Pardo, M. Jimenez-Del-Rio, F. Lopera, P. Chana-Cuevas, W. Fernandez, G. Arboleda, H. Arboleda, C.E Arboleda-Bustos, D. Yearout, C.P Zabetian, T. Thornton, T.D O’Connor, D. Lal, I.F Mata (Cleveland, OH, USA)

    Objective: To assess the CNV burden in a cohort of Latin American Parkinson’s disease (PD) patients and controls. Background: Despite the fact that PD prevalence…
  • MDS Virtual Congress 2020

    Is early-onset of levodopa-induced dyskinesia a predictor of GBA mutation? A next-generation sequencing study of young-onset Parkinson’s disease patients in Thailand

    S. Thanprasertsuk, P. Phowthongkum, T. Hopetrungraung, C. Poorirerngpoom, T. Satirapatya, P. Wichit, O. Phokaewvarangkul, K. Vongpaisarnsin, S. Bongsebandhu-phubhakdi, R. Bhidayasiri (Bangkok, Thailand)

    Objective: To examine the prevalence of genetic causes in young-onset Parkinson’s disease (YOPD) patients with levodopa-induced dyskinesia (LID) in Thailand using a next-generation sequencing (NGS)…
  • 2019 International Congress

    Identifying healthy Parkin mutation carriers based on sensor-based posturography and gait analysis

    J. Prasuhn, M. Borsche, A. Hicks, M. Gögele, C. Egger, C. Kritzinger, L. Langlott, M. Kasten, C. Klein, P. Pramstaller, N. Brüggemann (Lübeck, Germany)

    Objective: To discriminate healthy Parkin mutation carriers from healthy non-mutation carriers using sensor-based motion analysis. Background: Identifying endophenotypes for PD is crucial for testing potential…
  • 2019 International Congress

    Deep mitochondrial sequencing in Parkinson’s disease reveals possible genetic modifiers of reduced penetrance in Parkin/PINK1 mutation carriers

    J. Trinh, A. Hicks, K. Wasner, M. Farrer, F. Hentati, P. Bauer, S. Imhoff, K. Kandaswamy, N. Ouzren, M. Werber, A. Rolfs, V. Kostic, A. Lang, P. Pramstaller, P. Seibler, K. Lohmann, A. Gruenewald, C. Klein (Luebeck, Germany)

    Objective: To discover potential penetrance biomarkers in mitochondrial DNA (mtDNA) for Parkin and PINK1 mutation carriers. Background: Biallelic mutations in Parkin and PINK1 are fully…
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