MDS Abstracts

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

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Articles tagged "Chorea-acanthocytosis (see neuroacanthocytosis)"

  • 2023 International Congress

    Feeding dystonia revealing Huntington’s disease, about a case

    CH. Boukadir, S. Ouardi, N. Zemmouchi, N. Kassouri, W. Amer Elkhedoud (Ben Aknoun, Algiers, Algeria)

    Objective: Feeding dystonia is rare disorder represented by Spontaneous tongue protrusion and lip bites, classically present during eating, resulting in throwing out food bolus (1).…
  • 2023 International Congress

    Disorder of bulk lipid transfer? Lipid composition and distribution in cellular models of VPS13A disease

    K. Peikert, A. Spranger, E. Fischer, H. Glaß, B. Falkenburger, G. Miltenberger-Miltenyi, D. Tyteca, C. Klose, D. Grossmann, A. Hermann (Rostock, Germany)

    Objective: To study the overall lipid composition and distribution in red blood cells (RBCs) and neurons derived from VPS13A disease patients, a neurodegenerative disorder associated…
  • 2023 International Congress

    Calcium phenotype in cellular models of VPS13A disease

    E. Fischer, K. Peikert, A. Spranger, H. Glaß, D. Großmann, A. Hermann (Rostock, Germany)

    Objective: Since the Membrane contact sites (MCS) between ER and mitochondria are of particular importance for cellular calcium homeostasis, we hypothesize that MCS dysfunction in…
  • 2022 International Congress

    A rare case of Hyperkinetic Movement disorder

    P. A, T. K, S. S, C. P, P. Peter (SALEM, India)

    Objective: We present a case of hyperkinetic movement disorder in a 47 year old male with 3 year history of behavioural changes, chorea and dystonia…
  • 2022 International Congress

    Bilateral Globus Pallidus interna Deep Brain Stimulation for the treatment of chorea-acanthocytosis: A case report from South Africa

    M. Smith, G. Jonsson, A. Ferreira-Correia, N. Duff, M. Zorio (Johannesburg, South Africa)

    Objective: We report on the efficacy of bilateral Globus pallidus interna deep brain stimulation as a treatment for Chorea-acanthocytosis (ChAc). Background: ChAc is an autosomal…
  • MDS Virtual Congress 2021

    Normal chorein protein signal on Western blot despite VPS13A mutations in VPS13A disease

    G. Miltenberger-Miltenyi, B. Bader, A. Velayos-Baeza, L. Burghaus, P. Goldsmith, A. Abicht, R. Bhidayasiri, N. Balakrishnan, D. Simon, R. Walker, N. Lubarr, A. Danek (Munich, Germany)

    Objective: Follow up on patients with strong clinical evidence on VPS13A disease, despite normal chorein band expression in Western blot. Background: VPS13A disease is a…
  • MDS Virtual Congress 2021

    The Impact of DBS on Chorea- Acanthoctosis: Case Report

    SN. Erdem, H. Omercikoglu, F. Bayraklı, D. Günal (Istanbul, Turkey)

    Objective: Chorea-acanthocytosis (ChAc) is the most common subtype of neuroacanthocytosis syndrome, characterized by the presence of misshaped spiky red blood cells (acanthocytes) and associated neurological…
  • MDS Virtual Congress 2020

    Mcleod syndrome: Systematic review with meta-analysis

    A. Rochel Pérez, O. Cuevas Koh, K. Santos Zaldivar, R. Leal Ortega, R. Janssen-Aguilar, N. Mendez Dominguez (Mérida, Mexico)

    Objective: Analyze, review and describe the pathognomonic or characteristic signs and symptoms of Mcleod syndrome. Background: Mcleod syndrome is caused due to a mutation of…
  • 2019 International Congress

    Chorea-acanthocytosis: Challenges in early diagnosis and excellent treatment response to Deep Brain Stimulation (DBS) – a case report

    J. Walch, F. Brugger, D. Brogle, R. Bauer, S. Haegele-Link, G. Kägi (St. Gallen, Switzerland)

    Objective: To describe diagnostic challenges and the response to DBS in a patient with genetically confirmed Chorea-acanthocytosis (ChAc). Background: At the age of 20 during…
  • 2019 International Congress

    Case report: Chorea-acynthocytosis with two compoud heterozygous VPS13A large deletions

    D. Spieler, A. Mühlbäck, A. Velayos-Baeza, F. Castrop, C. Maegerlein, J. Slotta-Hispenina, B. Bader, B. Haslinger, J. Klempir, A. Danek (Freiburg, Germany)

    Objective: We report a 33 year old male patient without functional protein due to compound heterozygosity for VPS13A deletions and discuss the molecular diagnostic difficulties…
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