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

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Articles tagged "Dystonia: Etiology and Pathogenesis"

  • 2016 International Congress

    Symptoms of dystonia in a mouse with mutation in Lamb1

    K.J. Sweadner, Y.B. Liu, A. Tewari, J. Salameh, A. Brashear, L.J. Ozelius, K. Khodakhah (Boston, MA, USA)

    Objective: A mouse model that exhibits symptoms appropriate to dystonia will allow investigation underlying circuit abnormalities. Here we tested two hypotheses with the lamb1t mouse:…
  • 2016 International Congress

    Sensorimotor gray matter changes in professional brass players with and without Embouchure dystonia

    T.A. Mantel, C. Dresel, E. Altenmüller, A. Jochim, G. Gora-Stahlberg, C. Zimmer, B. Haslinger (Munich, Germany)

    Objective: To investigate patterns of gray matter alterations in professional brass musicians with embouchure dystonia (ED) in relation to healthy professional brass musicians and to…
  • 2016 International Congress

    Mind the gap: Temporal discrimination and cervical dystonia

    A. Sadnicka, C. Daum, C. Cordivari, K.P. Bhatia, J.C. Rothwell, S. Manohar, M.J. Edwards (London, United Kingdom)

    Objective: To deconstruct the temporal discrimination threshold (TDT) into its constituent parts. Background: The TDT, the shortest detectable interval between two stimuli, has repeatedly been…
  • 2016 International Congress

    Movement disorders after stroke in the third Moroccan level hospital, Marrakech

    A. Chahidi, M. Chraa, N. Kissani (Beni Mellal, Morocco)

    Objective: The goal of this study is to describe the clinical, paraclinical and evolutive features of patients having suffered from a movement disorder in the…
  • 2016 International Congress

    Functional characterization of the upstream start codon in the GCH1 gene

    L.C. Jones, E. Davila, L.K. Goode, P.G. Bhide, I. Armata (Tallahassee, FL, USA)

    Objective: To examine (1) the -22C > T point mutation which introduces a premature start codon upstream of the normal open reading frame (ORF) of…
  • 2016 International Congress

    Mutational analysis of GNAL gene in isolated dystonia patients from Spain

    P. Gómez-Garre, I. Huertas-Fernández, M.T. Cáceres-Redondo, A. Alonso-Canovas, I. Bernal-Bernal, A. Blanco-Ollero, M. Bonilla-Toribio, J.A. Burguera, M. Carballo, F. Carrillo, M.J. Catalán-Alonso, F. Escamilla-Sevilla, R. Espinosa-Rosso, M.C. Fernández-Moreno, J. García-Caldentey, J.M. García-Moreno, S. Giacometti-Silveira, J. Gutiérrez-García, S. Jesús-Maestre, E. López-Valdés, J.C. Martínez-Castrillo, M.P. Medialdea-Natera, C. Méndez-Lucena, A. Mínguez-Castellanos, M. Moya, J.J. Ochoa-Sepúlveda, T. Ojea, N. Rodríguez, I. Rubio-Agusti, M. Sillero-Sánchez, J. del Val, L. Vargas-González, P. Mir (Seville, Spain)

    Objective: To study the frequency and spectrum of GNAL genetic variations in a large population of isolated dystonia (DT) patients from Spain. Background: GNAL encodes…
  • 2016 International Congress

    Motor variability and learning indices in DYT1 dystonia

    A. Sadnicka, A. Stevenson, J.C. Rothwell, K.P. Bhatia, J. Galea, M.J. Edwards (London, United Kingdom)

    Objective: To examine motor variability in DYT1 dystonia and its interaction with subtypes of motor learning. Background: In healthy subjects it is now known that…
  • 2016 International Congress

    Same cerebellar atrophy pattern in hyper- and hypokinetic movement disorders due to mitochondrial cytopathy

    S.R. Schreglmann, F. Riederer, C. Ganos, G. Kägi, D. Waldvogel, U. Hidding, E. Krasemann, C.R. Baumann, K.P. Bhatia, H.H. Jung, L. Michels (London, United Kingdom)

    Objective: To describe the prevalence and phenotype of movement disorders (MDs) in patients with mitochondrial cytopathy (MC) and corresponding pattern of cerebral atrophy. Background: MCs…
  • 2016 International Congress

    Probable REM sleep behaviour disorder and detrusor overactivity in primary cervical dystonia- A case report

    S.L. Bhadran, M.G.J. Jacob, S. Kripal (Thrissur, India)

    Objective: To report two atypical associations of pRBD and DO we came across with a case of primary cervical dystonia. Background: RBD (REM sleep Behaviour…
  • 2016 International Congress

    Altered glutamate response and calcium dynamics in iPSC derived striatal neurons from XDP-patients

    P. Capetian, N. Stanslowsky, E.M. Bernhardi, M. Naujock, K. Grütz, A. Domingo, P. Seibler, F. Wegner, C. Klein (Lübeck, Germany)

    Objective: Our objective was to generate an in vitro model of XDP based on striatal neurons differentiated from induced pluripotent stem cells (iPSC), followed by…
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