MDS Abstracts

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

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  • 2019 International Congress

    Chlorogenic acid attenuates the MPTP induced apoptosis in Parkinson’s disease mouse model through pAkt signaling pathway

    S. Singh, S. Singh (Varanasi, India)

    Objective: This study deals to investigate and explore the anti-apoptotic and molecular mechanisms of CGA in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) induced Parkinsonian mice model. Background: The debilitating…
  • 2019 International Congress

    Defence Mechanism of Ego and Coping Strategy Style of the Patient with Parkinson’s Disease

    M. Kulsum, S. Choudhury, A. Ghosh, P. Ghosh (Kolkata, India)

    Objective: To find out the prevalence of different defence mechanism and coping strategies in the patients with PD.To find out the relationship between using of…
  • 2019 International Congress

    Clinical hypnosis in functional movement disorders: a potential therapeutic strategy

    C. Buiza-Aguado, C. Ordas-Bandera, M. Guillan-Rodriguez, J. Del Val, PJ. Garcia Ruiz-Espiga, JC. Martinez-Castrillo, I. Parees-Moreno, A. Alonso-Canovas (Madrid, Spain)

    Objective: To present a patient with a functional movement disorder who was successfully treated with clinical hypnosis. Background: Functional movement disorders (FMD), specially fixed dystonia,…
  • 2019 International Congress

    The role of stress-related genes and childhood trauma in the clinical phenotype of Functional Movement Disorders

    P. Spagnolo, C. Maurer, G. Norato, C. Hodgkinson, M. Hallett (Bethesda, MD, USA)

    Objective: The aim of this study was to evaluate the relationship between single nucleotide polymorphisms (SNPs) at the level of stress-related genes, childhood trauma, and…
  • 2019 International Congress

    SNCA G51D missense mutation causing juvenile onset Parkinson’s disease

    C. Cooper, J. Goldman, C. Zabetian, I. Mata, J. Leverenz (Chicago, IL, USA)

    Objective: To report the clinical and genetic features in a Parkinson’s patient with the SNCA G51D missense mutation. Background: α-synuclein (SNCA) gene mutations are recognized…
  • 2019 International Congress

    A novel intronic variant in MAPT causes FTLD-parkinsonism: Implications for regulatory mechanism of MAPT pre-mRNA splicing

    P. Gonzalez-Latapi, B. Bustos, D. Larson, L. Kinsley, N. Siddique, T. Siddique, T. Simuni, E. Bigio, S. Lubbe, R. de Silva, D. Krainc, N. Mencacci (Chicago, IL, USA)

    Objective: To report the identification of a novel intronic variant in MAPT in a patient with familial parkinsonism-frontotemporal lobar degeneration (FTLD). Background: MAPT mutations are…
  • 2019 International Congress

    GBA1 biomarkers in longitudinal CSF: GCase, Sphingolipids and alpha-synuclein

    S. Lerche, C. Schulte, G. Machetanz, I. Wurster, B. Röben, M. Zimmermann, C. Deuschle, A. Hauser, I. Liepelt-Scarfone, J. Böhringer, I. Krägeloh-Mann, I. Lachmann, W. Maetzler, T. Gasser, M. Mielke, D. Berg, K. Brockmann (Tuebingen, Germany)

    Objective: To assess the GBA1-pathway-specific biomarker profile in patient-derived CSF. Background: Heterozygous mutations in the GBA1 gene represent the most common genetic risk factor for…
  • 2019 International Congress

    Sequencing of single human nigral dopaminergic neurons for somatic copy number variants

    D. Perez-Rodriguez, M. Kalyva, S. Santucci, K. Mokretar, M. Leija-Salazar, A. Schapira, T. Lashley, J. Holton, C. Proukakis (London, United Kingdom)

    Objective: To detect somatic DNA copy number variants (CNVs) in dopaminergic neurons isolated from human substantia nigra, using shallow whole genome sequencing (WGS). Background: Somatic…
  • 2019 International Congress

    Heterozygous DCC mutations, more than congenital mirror movements

    S. Thams, M. Islam, M. Lindefeldt, A. Nordgren, T. Granberg, D. Nilsson, M. Paucar (Stockholm, Sweden)

    Objective: To perform a comprehensive characterization of 5 patients with variable degree of congenital mirror movements. Background: Congenital mirror movements (CMM) are rare non-progressive syndromes…
  • 2019 International Congress

    A Systems Approach Model for Pantothenate Kinase-Associated Neurodegeneration (PKAN)- Assessment and Treatment

    S. Baser, C. Muniz, F. Middleton, R. Ericson, C. Bass (Pittsburgh, PA, USA)

    Objective: Propose a new systems approach model for PKAN, investigate treatment, and establish biologic and genetic markers. Background: PKAN is a recessive, rare, inborn error…
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