MDS Abstracts

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

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Articles tagged "Lysosomal disorders"

  • 2019 International Congress

    Dysphagia in Adults with Niemann-Pick Disease Type C

    C. Lewis, M. Walterfang, A. Vogel (Melbourne, Australia)

    Objective: We aimed to (1) characterise baseline swallow function in people with NPC and (2) evaluate the impact of Miglustat treatment on the swallowing process.…
  • 2019 International Congress

    Looking “cherry red spot myoclonus” in the eyes

    GM. Riboldi, J. Martone, JR. Rizzo, T. Hudson, S. Frucht, J. Rucker (New York, NY, USA)

    Objective: To describe eye movements in a cohort of patients affected with Sialidosis type 1. Background: Sialidosis, or Mucolipidosis type 1, is a rare autosomal…
  • 2018 International Congress

    Diagnostic tips from a case series of patients with Late Onset Tay Sachs disease

    G.M. Riboldi, K. Anstett, H. Lau (New York, NY, USA)

    Objective: To describe a population of eight patients with Late Onset Tay Sachs (LOTS) disease and offer tips to aid in diagnosing this rare condition.…
  • 2018 International Congress

    An early-onset parkinsonism revealing a Gaucher disease with a heterozygous mutation in GBA gene: A case report

    R. Zouari, S. Ben Romdhan, N. Farhat, S. Sakka, H. Haj Kacem, O. Hdiji, M. Dammak, C. Mhiri (Sfax, Tunisia)

    Objective: To report a case of a late-onset Gaucher disease (GD) revealed by an atypical Parkinson disease. Background: GD is an autosomal recessive lysosomal disorder,…
  • 2018 International Congress

    FDG-PET and metabolomics in PD-associated GBA variants

    A. Greuel, JP. Trezzi, E. Glaab, C. Jäger, Z. Hodak, K. Lohmann, C. Klein, L. Timmermann, A. Drzezga, M. Tittgemeyer, Y. Ma, N. Diederich, C. Eggers (Marburg, Germany)

    Objective: To assess the clinical, cognitive, metabolic, and imaging phenotypes of PD patients carrying the variants p.E365K and p.T408M in the GBA gene (NM_000157.3). Background:…
  • 2018 International Congress

    The Polymorphism of SREBF1 Gene rs11868035 G/A Is Associated with susceptibility to Parkinson’s disease in a Chinese Population

    F. Lou, M. Li, XG. Luo, Y. Ren (Shenyang, China)

    Objective: The potential association between the single-nucleotide polymorphism of two functional genes (SREBF1gene rs11868035 and USP25 gene rs2823357) and susceptibility to Parkinson’s disease (PD) in…
  • 2018 International Congress

    Acid sphingomyelinase deficiency rescues mitochondrial dysfunction in gba-/- zebrafish (Danio rerio)

    M. Keatinge, L. Trollope, H. Mortiboys, O. Bandmann (Sheffield, United Kingdom)

    Objective: To determine the interaction between glucocerebrosidase deficiency and acid sphingomyelinase deficiency in a tractable vertebrate model system of Parkinson's disease. Background: Heterozygous glucocerebrosidase (GBA)…
  • 2018 International Congress

    Gaucher’s disease (GD) and Parkinsonism: An analysis from patients to relatives

    I. Trezzi, E. Monfrini, E. Cassinerio, I. Motta, F. Nascimbeni, F. Carubbi, N. Bresolin, G. Comi, M. Cappelllini, A. Di Fonzo (Milan, Italy)

    Objective: To identify parkinsonian features in a cohort of GD patients and their relatives. Background: GD is a lysosomal storage disorder caused by GBA1 mutations…
  • 2018 International Congress

    Lysosphingolipids accumulation in macrophage model of Gaucher disease

    M. Nikolaev, A. Kopytova, K. Senkevich, A. Emelyanov, G. Baydakova, E. Zakharova, G. Salogub, S. Pchelina (Gatchina, Russian Federation)

    Objective: The aim of this study was to investigate if GCase deficiency in macrophage model of GD lead to lysosphingolipids accumulation. Background: Mutations in the…
  • 2018 International Congress

    Pharmacological modulation of lysosomal glucocerebrosidase activity in the Thy1-aSYN mouse model of Parkinson’s disease

    K. Belarbi, E. Cuvelier, H. Carrie, M.A. Bonte, W. Sibran, C. Leghay, J. Von Gerichten, V. Nordström, R. Sandhoff, T. Comptdaer, N. Jouy, E. Mutez, A. Destee, C. Pincon, B. Gressier, M.C. Chartier-Harlin (Lille, France)

    Objective: To study the pharmacological modulation of glucocerebrosidase activity in the Thy1-aSYN mouse model of Parkinson's disease (PD). Background: PD is a complex neurodegenerative disorder…
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