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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

    Identification and clinical characterization of GBA variants in the Luxembourg Parkinson’s Study

    S. Pachchek, Z. Landoulsi, D. Reddy Bobbili, L. Pavelka, O. Terwindt, J. Torre, A K. Hauser, C. Schulte, E. Buena-Atienza, C. Gross, N. Casadei, R. Krüger, P. May (Belvaux, Luxembourg)

    Objective: Assess the entire set of variants in the glucocerebrosidase (GBA) gene by long-read sequencing in the Luxembourg Parkinson’s study (LuxPARK) and characterize genotype-phenotype correlations…
  • 2022 International Congress

    Alteration of lysosomal enzymatic activities in blood of patients with schizophrenia

    A. Bezrukova, K. Basharova, M. Nikolaev, E. Palchikova, I. Miliukhina, G. Baydakova, N. Zalutskaya, E. Zakharova, S. Pchelina, T. Usenko (Gatchina, Russian Federation)

    Objective: To estimate whether alteration of lysosomal activities contributes to schizophrenia (SCZ) pathogenesis, age at onset and risk of developing the disease. Background: SCZ is…
  • 2022 International Congress

    Cholinergic Innervation and Cognitive Functioning in De Novo Parkinson’s Patients with GBA Variations

    S. Slingerland, S. Vander Zee, JM. Boertien, AC. Slomp, T. van Laar (Groningen, Netherlands)

    Objective: To explore the regional cholinergic innervation and clinical characteristics of de novo Parkinson’s disease (PD) patients carrying GBA variants. Background: The most common genetic…
  • 2022 International Congress

    Increased alpha-synuclein level in primary macrophages derived from patients with Parkinson’s disease

    A. Kopytova, M. Nikolaev, G. Baydakova, A. Izymchenko, D. Bogdanova, I. Miliukhina, A. Emelyanov, E. Zakharova, S. Pchelina (Gatchina, Russian Federation)

    Objective: To assess glucocerebrosidase and alpha-synuclein level in primary macrophages derived from patients with Parkinson’s disease with and without GBA1 mutation. Background: Parkinson’s disease (PD)…
  • 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

    A large-scale full GBA1 gene screening in Parkinson’s disease in the Netherlands: 18 novel and 1 ‘Dutch’ variant

    J. den Heijer, V. Cullen, M. Quadri, A. Schmitz, D. Hilt, P. Lansbury, H. Berendse, W. de Berg, R. de Bie, J. Boertien, A. Boon, M. Contarino, J. van Hilten, J. Hoff, T. van Mierlo, A. Munts, A. der Plas, M. Ponsen, F. Baas, D. Majoor-Krakauer, V. Bonifati, T. van Laar, G.J Groeneveld (Leiden, Netherlands)

    Objective: Assess the entire GBA1 gene in Parkinson’s disease from a single large population. Background: The commonest genetic risk factor for Parkinson’s disease known to…
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