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

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Articles tagged "Chorea (also see specific diagnoses, Huntingtons disease, etc): Etiology and Pathogenesis"

  • MDS Virtual Congress 2021

    Epidemiology of Huntington Disease in Tatarstan republic, Russia. One-moment investigation

    Z. Zalyalova, S. Munasipova, D. Khasanova (Kazan, Russian Federation)

    Objective: This study aims to estimate the prevalence of HD and analyze structure of patients in Tatarstan republic based on data of Republican Consultative and…
  • MDS Virtual Congress 2021

    Using Human Neural Tissue Methylation to Decipher Epigenetic Characteristics and Cell Type Pathologies in Huntington’s Disease

    A. Glaser, J. Levy, Z. Zhang, L. Salas (Hanover, USA)

    Objective: This study combines methylation data from the two largest EWAS studies in Huntington's Disease (HD) human brain tissue [1,2]. Combined, this study yields the…
  • MDS Virtual Congress 2021

    Development of the Huntington’s Disease Integrated Staging System (HD-ISS)

    S. Tabrizi, S. Schobel, E. Gantman, A. Mansbach, B. Borowsky, P. Konstantinova, T. Mestre, A. Mullin, J. Panagoulias, K. Romero, C. Ross, S. Sivakumaran, E. Turner, M. Zauderer, J. Long, C. Sampaio (London, United Kingdom)

    Objective: To propose a new HD framework, referred to as the HD-ISS, that comprises an HD biological research definition and evidence-based staging centered on prognostic…
  • MDS Virtual Congress 2020

    Analysis of cases with Huntington’s disease phenotype and negative genetic test for huntingtin mutations in the Center for Movement Disorders (CETRAM) in Chile

    P. Salles, O. Benavides, N. Rojas, E. Solis, F. Canals, C. Kunstmann, L. Hudson, P. Saffie, J.M Fernandez, M. Terán, F. Vial, P. Chaná (Santiago, Chile)

    Objective: To describe cases referred to CETRAM suspected of Huntington's disease (HD) according their phenotype, in whom an alternative diagnosis was proposed after ruling out…
  • MDS Virtual Congress 2020

    Genetic analysis of Huntington’s Disease in a Brazilian Amazonian population

    D. Brito, M. Della Coletta, G. Ferreira, L. Amorim, S. Souza, S. Peixoto, C. Rezende (Manaus, Brazil)

    Objective: Characterize genetically a series of cases of patients with Huntington’s disease and their family members at risk in the city of Manaus, capital of…
  • MDS Virtual Congress 2020

    The roles of Huntingtin Associated Protein 40 in Huntingtin functions and Huntington’s disease pathogenesis

    S. Xu, G. Li, X. Ye, L. Ye, Z. Xu, E. Furr Stimming, S. Zhang (Houston, TX, USA)

    Objective: Huntington’s disease (HD) is caused by an abnormal expansion of a glutamine tract (polyQ) in huntingtin (HTT), a large scaffold protein with numerous reported…
  • MDS Virtual Congress 2020

    Biological and Clinical Manifestations of Huntington’s disease in Gene Carriers Very Far from Predicted Onset: The Young Adult Study

    P. Zeun, R. Scahill, K. Osborne-Crowley, E. Johnson, S. Gregory, C. Parker, J. Lowe, A. Nair, C. O'Callaghan, C. Langley, M. Papoutsi, P. McColgan, C. Estevez-Fraga, K. Fayer, H. Wellington, F. Rodrigues, L. Byrne, A. Heselgrave, H. Hyare, C. Sampaio, H. Zetterberg, H. Zhang, E. Wild, G. Rees, T. Robbins, B. Sahakian, D. Langbehn, S. Tabrizi (London, United Kingdom)

    Objective: To perform a deep phenotyping of a Huntington’s Disease (HD) cohort further from onset than previously studied to establish when disease related markers first…
  • MDS Virtual Congress 2020

    Defining time and anatomical specificity of basal ganglia white matter loss in premanifest Huntington’s disease

    P. Zeun, P. McColgan, T. Dhollander, S. Gregory, E. Johnson, M. Papoutsi, R. Scahill, G. Rees, S. Tabrizi (London, United Kingdom)

    Objective: To identify when white matter connections first begin to degenerate in HD and which connections are most susceptible to early degeneration. Background: Huntington’s disease…
  • MDS Virtual Congress 2020

    SCA48: Ataxia Plus Chorea in a New Spanish Family

    M.I Gastón, G. Soriano, A. Alonso, S. Pasalodos, J. Salgado, M. Mendioroz (Pamplona, Spain)

    Objective: To describe a new family with Spinocerebellar Ataxia 48 (SCA48) characterized by ataxia and mild chorea as the most prominent initial symptoms as well…
  • MDS Virtual Congress 2020

    Klebsiella pneumoniae meningitis presenting with chorea

    C. Lee, J. Yun, B. Jeon (Seoul, Republic of Korea)

    Objective: Klebsiella pneumoniae causes different type of community-acquire and nosocomial infections including pneumonia, sepsis and liver abscess. Klebsiella pneumoniae is considered as the uncommon pathogen…
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