MDS Abstracts

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

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  • 2024 International Congress

    The Fazekas scale score and the occurrence of adverse events after MRgFUS thalamotomy, is there a relationship?

    C. Ribacoba Díaz, A. Fernández Revuelta, M. Yus Fuertes, C. Pérez García, A. Trondin, E. López Valdés, R. García-Ramos García (Madrid, Spain)

    Objective: To analyse whether the score on the Fazekas scale (FS) correlates with an increased risk of adverse effects (AEs) after unilateral magnetic resonance-guided focused…
  • 2024 International Congress

    Characteristics and Treatment Patterns of Patients Newly Diagnosed With Essential Tremor: A Retrospective Claims Database Analysis in the US

    J. Williams, R. Pahwa, L. Barbato, J. Lin, F. Tefos, A. Sillah, S. Thomas, F. Geng, Y. Pan, J. Friderici, S. Shah (Bakersfield, USA)

    Objective: To understand patient characteristics and real-world medication patterns of patients with essential tremor (ET) being initiated on treatment in the US. Background: ET is…
  • 2024 International Congress

    Tremor and dizziness in a psychiatric patient

    O. Toth-Basa, A. Centea, M. Bonea, L. Perju-Dumbrava (Cluj-Napoca, Romania)

    Objective: We want to report a case of a patient with anxiety whose neurological symptoms were due to a basal ganglia cavernous malformation. Background: Tremor…
  • 2024 International Congress

    Genetic Heterogeneity in Chorea-Acanthocytosis Revealed by Varying VPS13A Mutations Within a Consanguineous Family

    S. Alatrash, F. Farook, D. Nicholl (Newcastle-Under-Lyme, United Kingdom)

    Objective: To present a case of a chorea-Acanthocytosis patient genetically confirmed within a recognized consanguineous family, yet displaying a distinct mutation within the VPS13A gene.…
  • 2024 International Congress

    Validation of Inertial Measurement Units and an application compared with the reference system to assess the gait in hereditary spastic paraplegia

    D. Cubillos-Arcila, A. Ivaniski-Mello, E. de Borba, L. Peyré-Tartaruga, J. Morales Saute (Porto Alegre, Brazil)

    Objective: To assess the reliability of spatiotemporal parameter measurements in HSP patients obtained from an inertial system and an application compared with the conventional motion…
  • 2024 International Congress

    MDSGene Update and Expansion: Clinical and Genetic Spectrum of LRRK2 Variants in Parkinson´s Disease

    C. Krüger, S-Y. Lim, A. Buhrmann, FL. Fahrig, C. Gabbert, N. Bahr, H. Madoev, C. Marras, C. Klein, K. Lohmann (Luebeck, Germany)

    Objective: To provide a comprehensive and systematic overview of published data on carriers of pathogenic variants in the LRRK2 gene, including demographic, clinical, and genetic…
  • 2024 International Congress

    Distinct patterns of Gene Expression in Skin-biopsy Derived Fibroblasts of Patients with Parkinson’s disease

    T. Ntetsika, I. Markaki, A. Damdimopoulos, M. Zeitelhofer, P. Tsitsi, M. Zeitelhofer Adzemovic, P. Svenningsson (Stockholm, Sweden)

    Objective: In this study, we aimed to investigate global gene expression alterations in cultured skin fibroblasts from individuals with idiopathic Parkinson’s disease (PD) compared to…
  • 2024 International Congress

    Studying monogenic Parkinson’s disease by building a global cohort of mutation carriers

    L. Lange, J. Junker, E-J. Vollstedt, K. Roopnarain, M. Doquenia, A. Ahmad-Annuar, M. Avenali, S. Bardien, N. Bahr, M. Ellis, C. Galandra, T. Gasser, P. Heutink, A. Illarionova, Y. Kanana, I. Keller Sarmiento, K. Kumar, S-Y. Lim, H. Madoev, I. Mata, N. Mencacci, M. Nalls, S. Padmanabhan, C. Shambetova, J. Solle, A-H. Tan, J. Trinh, E M. Valente, A. Singleton, C. Blauwendraat, K. Lohmann, Z-H. Fang, C. Klein (Luebeck, Germany)

    Objective: ObjectiveTo build a multi-ancestry cohort of individuals with pathogenic variants in genes known to cause Parkinson’s disease (PD) to study monogenic PD at a…
  • 2024 International Congress

    RAB32 variant p.Ser71Arg in the ROstock PArkinson’s Disease Study (ROPAD)

    C. Beetz, M. Radefeldt, K. Tripolszki, P. Bauer (Rostock, Germany)

    Objective: To identify and characterize PD patients with RAB32 variant p.Ser71Arg in the ROstock PArkinson’s Disease Study (ROPAD; ClinicalTrials.gov NCT03866603). Background: A recent preprint provided…
  • 2024 International Congress

    Screening for newly PD-associated RAB32 p.S71R variant in Latin America

    M. Rivera Paz, E. Waldo, T. Leal, P. Reyes-Pérez, M. Inca-Martinez, S. Alcauter, I. Amorín, M. Cornejo-Olivas, E. Dieguez, I. Estrada-Bellmann, A. Hernández-Medrano, M. Jimenez-Del-Rio, A. Lescano, B. Muñoz Ospina, K. Nuytemans, J. Orozco, V. Raggio, M. Rentería, J. Rios-Pinto, M. Rodriguez-Violante, K. Salinas Barboza, A. Schuh, C. Velez-Pardo, I. Mata (Cleveland, USA)

    Objective: Our aim was to identify whether a novel putative pathogenic variant in RAB32, a gene recently associated with familial forms of Parkinson’s Disease (PD),…
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