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

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Articles tagged "Spinocerebellar ataxias(SCA)"

  • MDS Virtual Congress 2021

    Spinocerebellar ataxia (SCA) type 2 and type 8: a tale of two repeat expansions in a single patient

    J. Frey, T. Tholanikunnel, L. Kugelmann, M. Burns, S. Subramony (Gainesville, USA)

    Objective: To describe the rare occurrence of coexisting SCA Types 2 and 8 in a pediatric patient. Background: SCAs are a group of autosomal dominant…
  • MDS Virtual Congress 2021

    Extracerebellar Signs and Symptoms in 117 Korean Patients with Early-Stage Spinocerebellar Ataxia

    M. Kim, JH. Ahn, JK. Mun, EH. Choi, JS. Kim, J. Youn, JW. Cho (Jinju, Republic of Korea)

    Objective: In this study, extracerebellar signs and symptoms in Korean patients with early-stage spinocerebellar ataxia were investigated. Background: Spinocerebellar ataxias (SCAs) are the most common…
  • MDS Virtual Congress 2021

    Hot cross bun sign in progressive ataxia with ELVOL4 mutation

    M. Moreno-Escobar, R. Tripathi (Morgantown, USA)

    Objective: To describe a case of progressive gait abnormalities and bulbar dysfunction which was associated with genetic mutation and neuroimaging findings representative of spinocerebellar ataxia…
  • MDS Virtual Congress 2021

    CEREBELLAR COGNITIVE AFFECTIVE SYNDROME IN SPINOCEREBELLAR ATAXIA TYPE 3

    KH. Yap, S. Azmin, SH. Mat Desa, HN. Achok, N. Mohamed Ibrahim (Cheras, Malaysia)

    Objective: This preliminary study aims to examine whether motor and cognitive features in spinocerebellar ataxia type 3 (SCA3) are manifestations of a shared and parallel,…
  • MDS Virtual Congress 2020

    The Phenotypical Presentation of SCA8 in Taiwan

    Y.C Liaw, H.L Chiang (Taipei City, Taiwan)

    Objective: ​​​​​We described the clinical features and phenotypic presentation of 40 patients who was diagnosed with spinocerebellar ataxia type 8 (SCA8) in a single tertiary…
  • MDS Virtual Congress 2020

    ROI based Machine Learning Classification Model for Spinocerebellar Ataxia type 12

    S. Agrawal, M. Narang, P. Pankaj, A. Srivastava, S. Kumaran, R. Agrawal (New Delhi, India)

    Objective: To find specific Region of Interests (ROI) with atrophy in Spinocerebellar ataxia type 12 (SCA12) patients using a machine learning classification model with respect…
  • MDS Virtual Congress 2020

    Effect of repetitive transcranial magnetic stimulation with intensive physical therapy in cerebellar ataxia: A pilot study

    J.H. Ahn, J. Song, M. Kim, J.K. Mun, J.S. Kim, J.W. Cho, W.H. Chang, J. Youn (Seoul, Republic of Korea)

    Objective: The present study investigated the efficacy and safety of combination treatment of repetitive transcranial magnetic stimulation (rTMS) and physical therapy (PT) in patients with…
  • MDS Virtual Congress 2020

    Concurrent SCA3 and SCA10 in a young man with ataxia and prominent dystonia

    A. Badiei, R. Saunders-Pullman, I. Bledsoe (San Francisco, CA, USA)

    Objective: To describe a case of a man with pathogenic repeat expansions in both ATXN3 and ATXN10. Background: SCA3 is caused by abnormal polyglutamine repeat…
  • MDS Virtual Congress 2020

    Upward Gaze Palsy in SCA3: a valuable semiological sign

    G. Franklin, F. Nascimento, A. Meira, C. Camargo, H. Teive (Curitiba, Brazil)

    Objective: Evaluate the prevalence of upward gaze palsy (UGP) and investigate its useful in assisting the clinical differentiation of SCAs. Background: Spinocerebellar ataxias (SCAs) represent…
  • MDS Virtual Congress 2020

    Plasma biomarker quantification in SCA3 using the Neurology 4-PLEX A kit and the Simoa technology

    H. Garcia-Moreno, G. Thomas-Black, A. Heslegrave, H. Zetterberg, P. Giunti (London, United Kingdom)

    Objective: We present the results of plasma biomarker quantification in a cohort of spinocerebellar ataxia type-3 (SCA3) carriers using a Simoa assay. Background: Development of…
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