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)"

  • 2022 International Congress

    Qualification of Digital Endpoints of Function in Healthy Volunteers for Use in a Decentralized Natural History Study in Genetic Parkinson’s Disease (PD)

    S. Sankaranarayanan, C. Tomkins-Lane, D. Singamsetty, G. Yahalom, N. France, M. Maurer, C. Barlow (South San Francisco, USA)

    Objective: Our goal was to qualify digital and wearable devices to assess the Timed Up and Go (TUG) test and gait related parameters in healthy…
  • 2022 International Congress

    Profiling the biochemical lysosomal activities in blood of patients with LRRK2 G2019S associated Parkinson’s disease

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

    Objective: To replicate the previous study of Alcalay and coauthors on estimation of lysosomal enzymes activities [1] with additional estimation of corresponding substrates in patients…
  • 2022 International Congress

    Genetic contribution to domain specific cognitive decline

    V. Livneh, N. Omer, N. Giladi, T. Gurevich, A. Bar-Shira, M. Gana-Weisz, O. Goldstein, J. Shirvan, J. Cedarbaum, A. Orr-Urtreger, R. Alcalay, A. Mirelman, A. Thaler (Tel Aviv, Israel)

    Objective: To assess differences in cognitive domains  between patients with Parkinson’s disease with the LRRK2 and GBA risk mutations Background: Most patients with PD show…
  • 2022 International Congress

    Association of a new pathogenic variant of LRRK2 with modifying lysosomal genes in a family with Parkinson’s disease

    L. Vela-Desojo, M. Osuna-Lopez, C. Guerrero, A. Pascual, F. Palau, J. Hoenicka (Alcorcón, Spain)

    Objective: To characterize a Parkinson’s disease (PD) family with high recurrence of the disease. Background: Parkinson’s disease (PD) is a complex neurodegenerative disorder in which…
  • MDS Virtual Congress 2021

    Overcoming clinical research challenges during a pandemic: selection and implementation of digital phenotyping solutions in a natural history study of G2019S LRRK2 Parkinson’s disease.

    N. France, C. Tomkins-Lane, M. Maurer, C. Barlow, E. Davies, C. Matthews, A. Palozoglu, L. Farid (South San Francisco, USA)

    Objective: To identify candidate wearable devices or digital solutions suitable for conducting the Timed Up and Go (TUG) test and evaluate real-world performance remotely during…
  • MDS Virtual Congress 2021

    LRRK2 Inhibition by BIIB122 / DNL151: Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics in Ph 1 Healthy Volunteer and Ph 1B Parkinson’s Disease Trials

    D. Jennings, J. Wetering Derooij, M. Vissers, J. Heuberger, G. Groeneveld, R. Macuica, A. Kay, M. Borin, B. Wong, V. Daryani, S. Huntwork-Rodriguez, P. Chin, C. Ho, M. Troyer (South San Francisco, USA)

    Objective: To evaluate safety, tolerability, pharmacokinetics (PK), and pharmacodynamics of the LRRK2 inhibitor, DNL151 (BIIB122), in healthy volunteers (HVs) and Parkinson’s disease (PD) patients. Background:…
  • MDS Virtual Congress 2021

    Defining LRRK2-PD subsets based on olfactory function in the PPMI

    K. Marek, A. Siderowf, C. Tanner, T. Simuni, L. Chahine, M. Brumm, C. Coffey (New Haven, USA)

    Objective: A major goal of the Parkinson Progression Marker Initiative (PPMI) is to identify clinical and biomarker defined disease subsets that may demonstrate differing disease…
  • MDS Virtual Congress 2021

    Increased stroke risk in Parkinson’s disease patients with LRRK2 mutations

    D. Macias-Garcia, MT. Periñán, L. Muñoz-Delgado, S. Jesús, MV. Jimenez-Jaraba, D. Buiza-Rueda, M. Bonilla-Toribio, A. Adarmes-Gomez, F. Carrillo, P. Gómez-Garré, P. Mir (Seville, Spain)

    Objective: To determine whether genetic forms of Parkinson’s Disease (PD), such as LRRK2-mutated PD (LRRK2-PD) and GBA­-mutated PD (GBA­-PD), have a different vascular risk compared…
  • MDS Virtual Congress 2021

    Familial Parkinson’s disease (PD) with anticipation phenomenon. Undescribed variant in the LRRK2 gene (c.4001G> A (p.Arg1334Gln))

    M. Mata, C. Jimeno (Madrid, Spain)

    Objective: We describe a family with 4 members affected by PD, carrying a new variant of the LRRK2 gen, with anticipation phenomenon in succeding generation.…
  • MDS Virtual Congress 2021

    Glucocerebrosidase activity does not predict Parkinson’s Disease risk or severity

    N. Omer, N. Giladi, T. Gurevich, A. Bar-Shira, M. Gana-Weisz, T. Glinka, O. Goldstein, M. Kestenbaum, J. Cedarbaum, O. Mabrouk, K. Fraser, J. Shrivan, A. Orr-Urtreger, A. Mirelman, A. Thaler (Tel-Aviv, Israel)

    Objective: To explore the association between GCase activity, PD phenotype and probability for prodromal PD among PD and non-manifesting carriers (NMC) of mutations in the…
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