MDS Abstracts

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

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Articles tagged "Motoneuron disease"

  • 2023 International Congress

    A 78-year-old man with progressive ataxia, palatal tremor, parkinsonism and motor neuron disease.

    P. Hoang, JR. Zuzuarregui (San Francisco, USA)

    Objective: To report a unique case of palatal tremor associated with parkinsonism, ataxia and motor neuron disease. Background: Progressive ataxia with palatal tremor (PAPT) is…
  • 2022 International Congress

    Parkinson disease with LRRK2 mutation associated with upper motor neuron dysfunction

    A. Rodriguez-Sanz, S. Serrano (MADRID, Spain)

    Objective: We report a patient with genetic Parkinson disease associated with upper motor neuron dysfunction. Background: Leucine-rich repeat kinase 2 (LRRK2) mutations have been extensively…
  • MDS Virtual Congress 2020

    Spinocerebellar Ataxia Type 3 Presenting with Motor Neuron Disease

    C. Jaques, J. Pedroso, A. Rocha, W. Pinto, A. Oliveira, O. Barsottini (São Paulo, Brazil)

    Objective: Spinocerebellar ataxia type 3 (SCA3) is associated with a wide spectrum of clinical manifestations, including peripheral neuropathy and amyotrophy, in addition to other motor…
  • 2019 International Congress

    A novel p.Trp42Arg REEP1 mutation associated with autosomal recessive Distal spinal muscular atrophy with vocal cord and diaphragmatic paralysis

    R. Kaiyrzhanov, R. Maroofian, M. Behnam, M. Salehi, V. Salpietro, H. Houlden (London, United Kingdom)

    Objective: To present a patient with homozygous mutation in Receptor Expression-Enhancing Protein 1 (REEP1) gene manifesting a severe congenital Distal spinal muscular atrophy (SMA) with…
  • 2017 International Congress

    Implanted Brain-Computer Interface for communication in people with motor impairment

    E. Pels, E. Aarnoutse, M. Vansteensel, S. Leinders, Z. Freudenburg, M. Branco, M. Vanden Boom, T. Denison, N. Ramsey (Utrecht, Netherlands)

    Objective: In people with movement disorder communication can be challenging and depends heavily on their caregiver. Here we describe an ALS-patient utilizing the first fully…
  • 2017 International Congress

    Tremor in motorneuron disease: central or peripheral origin?

    A. Latorre, M. Stamelou, L. Rocchi, M. Ciocca, K. Sidle, J. Rothwell, K. Bhatia (London, United Kingdom)

    Objective: To investigate whether postural/action tremor in motorneuron disease (MND) has a central origin.  Background: MND refers to the whole spectrum of progressive degenerative diseases…
  • 2016 International Congress

    Eye tracking-based measurement of cognitive functions in patients with neurodegenerative diseases

    H. Schmitz-Peiffer, K. Linse, W. Rüger, M. Joos, M. Löhle, A. Storch, A. Hermann (Dresden, Germany)

    Objective: To develop and evaluate motor-free procedures via eye tracking for determining cognitive functions in patients with idiopathic Parkinson's disease (PD) and motor neuron disease…
  • 2016 International Congress

    ECG-based cardiopulmonary coupling for sleep stability assessment in patients with amyotrophic lateral sclerosis

    S. Mariani, P. Congiu, G. Milioli, G. Gioi, G. Borghero, F. Marrosu, R.J. Thomas, A.L. Goldberger, M. Puligheddu (Boston, MA, USA)

    Objective: The goal of this preliminary study is to introduce the technique of CardioPulmonary Coupling (CPC) to visualize and quantify the sleep spectrograms of Amyotrophic…
  • 2016 International Congress

    A rapid chemical-genetic screen utilising impaired movement phenotypes in caenorhabditis elegans

    K. Schmeisser, Y.F. Ghassemi, C. Maios, A. Parker (Montreal, QC, Canada)

    Objective: Development of a fast and unbiased screening method to identify C. elegans mutants with movement disabilities and drugs to improve impaired locomotion. Background: Identifying…
  • 2016 International Congress

    Familial SPG17/distal hereditary motor neuropathy type V– Complicated hereditary spastic paraplegia with many faces

    T. Musacchio, A.K. Zaum, N. Üceyler, C. Sommer, N. Pfeifroth, K. Reiners, E. Kunstmann, J. Volkmann, S. Rost, S. Klebe (Würzburg, Germany)

    Objective: We present the clinical and genetic results of a SPG17 family with a vast intrafamilial phenotype from subclinical signs to a severe and rapidly…
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