MDS Abstracts

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

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  • 2024 International Congress

    Functional neurological disorders might be a frequent cause of slow orthostatic tremor: insights from a case series.

    A. Querejeta-Coma, L. Yupanqui-Guerra, A. Gómez-Domínguez, C. Ordas-Bandera (Móstoles, Spain)

    Objective: To study the clinical and electrophysiological characteristics of series of patients with slow orthostatic tremor (sOt) Background: sOT is characterized by tremor <13Hz affecting…
  • 2024 International Congress

    Evaluating the Effect of Myofascial Release on Parkinson’s Related Tremor

    S. Phelps (Cardiff, United Kingdom)

    Objective: Parkinson’s disease (PD) is the second-fastest neurological disorders in the world. Although there is no cure, medicines, surgical treatment, and other therapies can treat…
  • 2024 International Congress

    Improving Work Up amongst Patients with Rare Movement Disorders according to Diagnostic Yield Findings– Update from Single Center Neurogenetic Clinic

    D. Penn, Y. Amir, G. Ben David, J. Zitser Koren, G. Gurevich, H. Baris Feldman, R. Alcalay, Y. Yaron, P. Ponger (Tel Aviv, Israel)

    Objective: We present the genetic testing diagnostic yield in a tertiary center Neurogenetic Clinic, focusing on rare movement disorders. Background: The diagnostic yield of genetic…
  • 2024 International Congress

    Phenotypic Variability of PRNP and Related Movement Disorders

    M. Tuesta Bernaola, J. Ganguly, M. Jog (London, Canada)

    Objective: Delineation of clinical and genetic features of PRNP-related movement disorders in two families. Background: Genetic prion disease can have a variable and overlapping phenotypic presentation…
  • 2024 International Congress

    Rare Variant Burden is Increased in Sporadic Late-onset Chinese Parkinson’s Disease Patients

    RWH. Ho, ZW. Xiong, RCN. Lo, HF. Liu, PWL. Ho, SL. Ho, SYY. Pang (Hong Kong, Hong Kong)

    Objective: We aim to study the rare variant burden in a panel of 29 Parkinson’s disease (PD) candidate genes (Table 1) in a cohort of…
  • 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),…
  • 2024 International Congress

    DPPX Autoimmune Encephalitis Associated with Severe Multifocal Dystonia.

    E. Roddy, E. Gentry, P. Hedera, V. Holiday, D. Robertson (LOUISVILLE, USA)

    Objective: To describe a novel motor phenomenology in an individual diagnosed with anti-DPPX encephalitis at our institution and to compare it with previously known phenotypic…
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