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

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Articles tagged "Familial neurodegenerative diseases"

  • MDS Virtual Congress 2021

    Metabolic alterations in a Drosophila model of Parkinson’s disease

    C. Solana-Manrique, F J. Sanz, I. Torregrosa, N. Paricio (Burjassot, Spain)

    Objective: Identification of metabolic alterations that could be contributing to Parkinson’s disease (PD) physiopathology and become new biomarkers or therapeutic targets for the disease. Background:…
  • MDS Virtual Congress 2021

    Wearable sensors are able to identify individuals in the prodromal phase of X-linked Dystonia-Parkinsonism

    J. Steinhardt, H. Hanssen, M. Heldmann, A. Sprenger, A. Domingo, A. Domingo, C. Reyes, R. Rosales, C. Klein, T. Muente, A. Westenberger, J. Oropilla, C. Siesta, N. Brueggemann (Luebeck, Germany)

    Objective: To identify subclinical changes of balance and gait in patients with X-linked dystonia-parkinsonism (XDP) and non-manifesting carriers of the XDP-causing mutation. Background: XDP is…
  • MDS Virtual Congress 2020

    Clinical and genetic profile of Familial Parkinson´s disease in Cali – Colombia

    J. Orozco Velez, B. Munoz Ospina, V. Quintana-Peña, J. Valderrama-Chaparro, Y. Castaño-Pino, D. Rincón, A. Navarro, I. Hernandez-Mata (Cleveland, OH, USA)

    Objective: This study aims to describe the genetic and clinical profile of 32 subjects with familial PD using NGS genetic panel and eMotion software system…
  • MDS Virtual Congress 2020

    Profile of non motor symptoms in familial Parkinson’s disease

    A. Patwardhan, P. Pal, R. Yadav, N. Kamble (Bangalore, India)

    Objective: Non motor symptoms have a significant contribution to the quality of life of patients with Parkinson’s disease.The aim of the study was to assess the…
  • MDS Virtual Congress 2020

    Cortical Activation during Dynamic Sway of young Fragile X Premutation Carriers

    C. O'Keeffe, M. Carro Domínguez, E. O'Rourke, T. Lynch, T. Reilly (Dublin, Ireland)

    Objective: To investigate changes in cortical activity of fragile X premutation carriers during self-paced sway to the limit of stability. Background: The fragile X premutation…
  • MDS Virtual Congress 2020

    Predictors of quality of life in Machado-Joseph disease: A longitudinal observational study

    I. Cunha, P. Silva, J. A Ribeiro, M. Santana, L. P Almeida, C. Januário (Coimbra, Portugal)

    Objective: Determine the influence of clinical symptoms on QoL in patients with Machado-Joseph disease (MJD). Background: MJD is a rare inherited neurodegenerative disorder. Its phenotypical expression…
  • MDS Virtual Congress 2020

    Movement disorders in a family carrying ATP7A variant

    G. Buongarzone, B. Minafra, E. Errichiello, S. Gana, A. Asaro, I. Canavero, E. Tartara, M. Paoletti, R. Zangaglia, C. Cereda, C. Pacchetti, E.M Valente (Pavia, Italy)

    Objective: To report an early onset parkinsonism in a family carrying a pathogenic variant in the ATP7A gene. Background: ATP7A variants cause Menkes disease (MD), a…
  • MDS Virtual Congress 2020

    Epidemiology of Huntington’s Disease (HD) in the US Medicaid Population

    A. Exuzides, S. Reddy, E. Chang, C. Paydar, G. Yohrling (South San Francisco, CA, USA)

    Objective: To estimate the current prevalence of Huntington’s disease (HD) among Medicaid beneficiaries in the United States (US). Background: HD is a genetic, progressive, neurodegenerative…
  • MDS Virtual Congress 2020

    Healthcare Utilization and Cost Burden at the End-of-Life Among Medicare Beneficiaries with Huntington’s Disease

    S. Reddy, A. Exuzides, E. Chang, C. Paydar, G. Yohrling (Beverly Hills, CA, USA)

    Objective: To examine healthcare utilization (HCU) and costs occurring at the end of life among deceased Medicare beneficiaries who were diagnosed with Huntington’s disease (HD).…
  • MDS Virtual Congress 2020

    Longitudinal dynamics of mutant huntingtin and neurofilament light in Huntington’s disease: the prospective HD-CSF study

    F. Rodrigues, L. Byrne, R. Tortelli, E. Johnson, P. Wijeratne, M. Arridge, E. De Vita, D. Alexander, S. Tabrizi, S. Schobel, R. Scahill, A. Heslegrave, H. Zetterberg, E. Wild (London, United Kingdom)

    Objective: To present the mutant huntingtin (mHTT) and neurofilament light (NfL) findings from the two-year prospective longitudinal HD-CSF study, in which an 80-participant cohort of…
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