MDS Abstracts

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

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Articles tagged "Leucine-rich repeat kinase 2(LRRK2)"

  • 2024 International Congress

    Frequency of LRRK2 p.L1795F variant in Parkinson’s Disease patients from Central Europe within the CEGEMOD consortium

    M. Ostrozovicova, G. Tamas, K. Soos, P. Dusek, M. Grofik, V. Han, P. Holly, R. Jech, P. Klivenyi, N. Kovacs, K. Kulcsarova, E. Kurca, A. Lackova, J. Necpal, D. Pinter, E. Ruzicka, T. Serranova, K. Smilowska, I. Straka, T. Svorenova, P. Valkovic, K. Zarubova, H. Houlden, M. Rizig, M. Skorvanek (Kosice, Slovakia)

    Objective: The aim of this study was to investigate the presence of LRRK2 p.L1795F variant in PD patients from Central Europe. Background: Pathogenic variants in…
  • 2024 International Congress

    The role of LRRK2 in regulating microglial activity in Parkinson’s disease

    S. Brooker, A. Thomas, D. Krainc (Chicago, USA)

    Objective: To investigate the effects of pathogenic LRRK2 mutations on lysosomal function and phagocytic activity of microglia. Background: The LRRK2 G2019S mutation is one of…
  • 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

    Rationale for LRRK2 inhibition in sporadic Parkinson’s disease and the LUMA trial

    R. Hauser, A. Lang, L. Kalia, JT. Greenamyre, R. Llorens-Arenas, D. Jennings, B. Hersh, K. Fraser, S. Huntwork-Rodriguez, A. Henry, J. Kluss, C. Paisán-Ruiz, Z. Berger (Tampa, USA)

    Objective: To summarize the rationale for LRRK2 inhibition in sporadic PD patients without LRRK2 mutations, and to describe the current design of the LUMA study,…
  • 2024 International Congress

    LRRK2 Gene Mutation in Parkinson’s Disease

    A. Abbes, M. Mhiri, R. Ben Dhia, N. Gouta, M. Frih Ayed (Monastir, Tunisia)

    Objective: We aim to describe the clinical characteristics of PD linked to an LRRK2 mutation. Background: One of the most common monogenic forms of Parkinson's…
  • 2023 International Congress

    Asian LRRK2 variants do not increase Likelihood Ratios derived from MDS prodromal Parkinson’s Disease criteria in a community population

    R. Chen, C. Chai, N. Chia, S. Ng, E. Ng, E. Tan, Z. Xu, L. Tan (Singapore, Singapore)

    Objective: To determine if the presence of the Asian LRRK2 risk variants (G238R, S1647T, R1628P) confers an increased risk in developing PD in a Singaporean…
  • 2023 International Congress

    Inhibition of LRRK2 kinase activity promotes glucocerebrosidase transport to the lysosomes in primary monocyte-derived macrophages from patients with GBA-associated Parkinson’s disease

    K. Basharova, A. Bezrukova, A. Izyumchenko, G. Baydakova, I. Miliukhina, E. Zakharova, S. Pchelina, T. Usenko (Gatchina, Russian Federation)

    Objective: The aim was to evaluate the effectiveness of leucine-rich repeat kinase 2 (LRRK2) kinase activity inhibition in restoring transport of the enzyme glucocerebrosidase (GCase),…
  • 2023 International Congress

    Longitudinal change in clinical characteristics of LRRK2 carriers in a remote cohort

    S. Lettenberger, P. Auinger, R. Wilson, E. Hartman, M. Pawlik, M. Khokhar, E. Dorsey, B. Valdovinos, S. Sharma, R. Holloway, C. Tanner, R. Alcalay, R. Schneider (Rochester, USA)

    Objective: To examine change in clinical characteristics in LRRK2 G2019S carriers with Parkinson’s disease (PD) and without PD (non-manifest carriers) enrolled in Virtual Assessment of…
  • 2023 International Congress

    LRRK2 PROTAC® degrader molecules induce robust biomarker responses in preclinical in vivo pharmacology studies following acute and chronic oral dosing

    J. Meredith Jr, K. Kelly, V. Guss, A. Desantis, L. Kimmel, S. Soletsky, J. Pizzano, G. Cadelina, J. Chavez, S. Sparks, A. Cacace (New Haven, USA)

    Objective: Report on the non-clinical in vivo pharmacokinetic and pharmacodynamic biomarker response to PROteolysis TArgeting Chimera (PROTAC®) molecules designed to induce degradation of leucine rich…
  • 2023 International Congress

    The natural history of Parkinson’s disease in LRRK2 G2019S carriers

    M. Kmiecik, D. Coker, K. Heilbron, S. Aslibekyan, J. Shelton, P. Cannon, L. Norcliffe-Kaufmann (Sunnyvale, USA)

    Objective: To document differences between the evolution of self-reported symptoms and prodromal markers in LRRK2 G2019S carriers and non-carriers with and without Parkinson’s Disease (PD).…
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