MDS Abstracts

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

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Articles tagged "Ataxia: Pathophysiology"

  • 2017 International Congress

    Ataxia-Teleangiectasia-Mutated-Knock-Out mouse cerebellum shows significant reduction of calcium homeostasis factors

    J. Canet-Pons, R. Schubert, U. Warnken, M. Schnoelzer, S. Zielen, G. Auburger (Frankfurt am Main, Germany)

    Objective: We aimed to identify sensitive and specific molecular markers of the cerebellar Purkinje neuron loss in Ataxia Teleangiectasia. Background: Ataxia teleangiectasia is an autosomal…
  • 2017 International Congress

    TANDEM REPEATS BEYOND THE CLINICAL DIAGNOSIS IN ADCAs

    A. Srivastava, M. Faruq, S. Shakya, I. Singh, V. Swarup (New Delhi, India)

    Objective: To present observations on abnormal expansion in both allele in ADCAs. Background: Use of expansion in tandem repeats is restricted to only disease diagnosis…
  • 2017 International Congress

    Spinocerebellar Ataxia type 11 in a Hispanic Kindred

    D. Machado, J.A. deMarcaida (Vernon, CT, USA)

    Objective: To present the clinical profiles of two siblings with SCA11 who are of Hispanic origin. Background: Spinocerebellar ataxia type 11 (SCA11) is an autosomal…
  • 2016 International Congress

    Ataxic gait in subjects with essential tremor and thalamic neurostimulation is caused by posteromedial current spread in the (sub)thalamic area

    M.M. Reich, J. Brumberg, N. Pozzi, M. Åström, R. Nijlunsing, T. Musacchio, F. Steigerwald, G. Marotta, A. Buck, J. Volkmann, I.U. Isaias (Wuerzburg, Germany)

    Objective: We aimed to disentangle a putative role of bilateral thalamic DBS in developing gait-ataxia in subjects with ET. Background: In ET patients with DBS,…
  • 2016 International Congress

    Modelling spinocerebellar ataxia 15 with iPS cell derived neurons

    S. Wiethoff, C. Arber, S. Wray, Y. Zhi, R. Patani, H. Henry (London, United Kingdom)

    Objective: Here we set out to study the cellular pathology of ITPR1-deletions underlying SCA15 in a human model of iPSC-derived cortical neurons. Background: Spinocerebellar Ataxia…
  • 2016 International Congress

    Impaired eye voice coordination in spinocerebellar degeneration while reading aloud

    Y. Terao, S. Tokushige, S. Terada, T. Sasaki, M. Hamada, S. Tsuji, Y. Ugawa (Tokyo, Japan)

    Objective: In order to elucidate the cause of the impaired reading performance. Background: Deficit in reading performance in patients with spinocerebellar degeneration (SCD) has been…
  • 2016 International Congress

    Peripheral insulin sensitivity and body composition alterations in early stage Machado Joseph disease

    J.A. Saute, S.N. Gabriele, C.B. Haas, V.R. Torrez, A.W. Brochier, G.V. Furtado, T.C. Gheno, A.D. Russo, T.L. Monte, A. Schumacher-Schuh, R. D´Avila, K.C. Donius, R.M. Castilhos, D.O. Souza, M.L. Saraiva-Pereira, V.L. Torman, S.A. Camey, C.R.M. Rieder, L.V.C. Portela, L.B. Jardim (Porto Alegre, Brazil)

    Objective: To describe body composition and peripheral sensitivity to insulin (PSI) in early stage and presymptomatic spinocerebellar ataxia type 3/Machado Joseph disease (SCA3/MJD) individuals and…
  • 2016 International Congress

    STUB1/CHIP mutations cause Gordon Holmes syndrome as part of widespread multisystemic neurodegeneration: Evidence from novel mutations

    S.N. Hayer, K. Smets, B. Bender, T. Deconinck, S. Züchner, L. Schöls, R. Schüle, P. De Jonghe, J. Baets, M. Synofzik (Tübingen, Germany)

    Objective: (1) To provide phenotypic and imaging evidence for a widespread neurodegenerative process caused by mutations in CHIP, thus demonstrating a close clinical correspondence to…
  • 2016 International Congress

    The nucleocytoplasmic transport of ataxin-3 as pathogenic mechanism in spinocerebellar ataxia type 3

    T. Schmidt, A. Sowa, I.M. Martins, M. Abedi, Z. Wang, J. Schmidt, H. Tricoire, O. Riess (Tübingen, Germany)

    Objective: Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is a neurodegenerative disorder caused by a CAG expansion in the MJD1 gene leading to…
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