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

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Articles tagged "Lysosomal disorders"

  • 2022 International Congress

    Neuroimaging in Glucocerebrosidase-associated parkinsonism: a systematic review

    R. Balestrino, F. Agosta, S. Basaia, M. Filippi (Milano, Italy)

    Objective: To critically review studies applying neuroimaging to Glucocerebrosidase (GBA)-associated parkinsonism. Background: Mutations in the GBA gene cause Gaucher disease (GD) and constitute the most…
  • 2022 International Congress

    The development of a screening tool to identify movement disorders in patients with inborn errors of metabolism

    L. Koens, M. Klamer, D. Sival, B. Balint, K. Bhatia, M. Contarino, M. van Egmond, R. Erro, J. Friedman, V. Fung, C. Ganos, M. Kurian, A. Lang, E. Mcgovern, E. Roze, T. de Koning, M. Tijssen (Groningen, Netherlands)

    Objective: To develop a user-friendly rapid screening tool for non-movement disorder specialists to detect movement disorders in patients with inborn errors of metabolism. Background: Movement…
  • 2022 International Congress

    Prevalence of GBA parkinsonism in Slovak Parkinson’s disease population

    A. Lacková, V. Han, P. Pavelekova, Z. Gdovinova, M. Skorvanek, K. Kulcsarova, M. Ostrozovicova, T. Lorincova, P. Bauer, CH. Beetz, S. Oppermann, E. Tusay, B. Kovacova, B. Stasko, E. Petro, S. Bohacova (Košice, Slovakia)

    Objective: Our study aimed to determine the prevalence of GBA parkinsonism in the Slovak population with Parkinson's disease (PD). Background: In recent years, there has…
  • 2022 International Congress

    The frequency of glucocerebrosidase mutations in a subgroup of early-onset Parkinson’s disease patients in the Korean population

    J. Lee, J. Hwangbo (Yangsan, Republic of Korea)

    Objective: We investigated the frequency of GBA mutations in the Korean patients with early-onset Parkinson’s disease (PD). Background: Glucocerebrosidase (GBA) mutations are associated with increased…
  • MDS Virtual Congress 2021

    The potential of GBA1 knock-out medaka as a model animal in the search for therapeutic compounds for GBA1-related α-synucleinopathy

    E. Nakanishi, M. Sawamura, Y. Taruno, N. Uemura, H. Yamakado, R. Takahashi (Kyoto, Japan)

    Objective: This study was performed to search for therapeutic agents for GBA1-related α-synucleinopathy. Background: The GBA1 gene is the causative gene of Gaucher’s disease (GD).…
  • MDS Virtual Congress 2021

    Rare Neurodegenerative Phenotypes in Patients Carrying Homozygous GBA1 Mutations

    G. Lopez, N. Tayebi, M. Hallett, A. Zimran, P. Kishnani, E. Sidransky (Bethesda, USA)

    Objective: To describe patients with Type 1 Gaucher disease who developed a rare neurodegenerative disease other than synucleinopathies. Background: Lysosomal dysfunction as a contributor to…
  • MDS Virtual Congress 2021

    Lysosomal storage disorder genes variants in Parkinson’s disease: a large cohort study in Chinese mainland population

    Y. Zhao, H. Pan, Y. Wang, Z. Liu, Q. Zeng, Z. Fang, K. Xu, Z. Wang, X. Zhou, R. He, B. Li, G. Zhao, Q. Xu, Q. Sun, X. Yan, J. Tan, J. Li, J. Guo, B. Tang (Changsha, China)

    Objective: In this study, we investigated the association between rare variants in lysosomal storage disorders (LSDs) genes and Parkinson’s disease in large Chinese mainland cohorts.…
  • MDS Virtual Congress 2021

    Lipid metabolism alterations in the lysosomal membrane promotes chaperone-mediated autophagy dysfunction and alpha-synuclein pathology in Parkinson’s disease associated to GBA

    A. Navarro-Romero, I. Fernandez-Gonzalez, M. Montpeyo, J. Riera, E. Pradas, JA. Arranz, C. Carnicer-Caceres, M. Martinez-Vicente (Barcelona, Spain)

    Objective: The objective of this study was to generate and characterize a new in vitro neuronal model of Parkinson's diseases associated to GBA (PD-GBA) that…
  • MDS Virtual Congress 2021

    Genotype-Phenotype Correlations in Niemann-Pick Disease Type C

    N. Kresojević, M. Ječmenica Lukić, A. Tomić, I. Petrović, N. Dragašević, M. Svetel, V. Dobričić, M. Janković, I. Novaković, V. Kostić (Belgrade, Serbia)

    Objective: To evaluate genetic and phenotypic variability and correlations in adult Niemann Pick disease type C (NPC) patients. Background: NPC is an autosomal recessive inherited…
  • MDS Virtual Congress 2020

    GPNMB protein levels in CNS are modulated by PD risk variant rs199347

    Y. Seo, M. Diaz Ortiz, D. Weintraub, V. Van Deerlin, J. Trojanowski, A. Chen-Plotkin (Philadelphia, PA, USA)

    Objective: This study evaluates protein quantitative trait loci (pQTL) effect of single nucleotide polymorphism (SNP) rs199347 in modulating glycoprotein non-metastatic melanoma protein B (GPNMB) expression…
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