MDS Abstracts

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

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Articles tagged "Spinocerebellar ataxias(SCA)"

  • 2019 International Congress

    Research on the modifier gene of Hereditary spinocerebellar ataxia type 2

    JLW. Wang, ZL. Liu (Changsha, China)

    Objective: To investigate the influence of CAG trinucleotides repeat of some (CAG)n-containing gene and some gene polymorphisms in AO of SCA2, and analyse the difference…
  • 2019 International Congress

    The PLA2G6 Gene Mutation Causes Parkinson’s Disease: A Case Report

    L. Kou, T. Wang, L. Liu, GX. Zhang (Wuhan, China)

    Objective: To investigate the clinical features of Parkinson's disease caused by PLA2G6 gene mutation. Background: Early-onset Parkinsonism is a group of syndromes characterized by Parkinson's disease…
  • 2019 International Congress

    Differential Value of Brain Magnetic Resonance Imaging in MSA-C and SCAs

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

    Objective: Diagnostic value of brain magnetic resonance imaging (MRI) in differentiating multiple system atrophy cerebellar (MSA-C) phenotype and spinocerebellar ataxias (SCAs) was assessed according to…
  • 2019 International Congress

    Reconstructing the history of Machado-Joseph disease

    A. Meira, J. Pedroso, F. Germiniani, O. Barsottini, H. Teive (São Paulo, Brazil)

    Objective: The authors debate if previous descriptions of cerebellar ataxias with autossomal dominant pattern of inheritance, resembling MJD phenotipically, should gain the merit of first…
  • 2019 International Congress

    Two novel ANO10 mutations causing adult-onset autosomal recessive spinocerebellar ataxia

    B. Bergmans, S. Donatello, M. Pandolfo, C. Depondt (Brugge, Belgium)

    Objective: Clinical and genetic characterization of a patient Background: In recent years mutations more than 100 different genes have been shown to underlie spinocerebellar ataxias.…
  • 2019 International Congress

    Polysomnographic features of Spinocerebellar Ataxia type 3 – a case report

    DRC. Carneiro, IL. Luzeiro, ASM. Morgadinho (Coimbra, Portugal)

    Objective: To describe, through a case report, the range of abnormal sleep patterns of Spinocerebellar Ataxia type 3 (SCA3). Background: SCA3 is a progressive neurodegenerative…
  • 2019 International Congress

    Evolution of ataxia in risk persons for spinocerebellar ataxia (SCA)

    H. Jacobi, S. Tezenas Dumontcel, T. Klockgether, O. The-Risca-Investigators (Bonn, Germany)

    Objective: To study the premanifest stage of the most common SCAs. Specifically, we wanted to determine the conversion rate to ataxia in risk persons and…
  • 2019 International Congress

    Ocular Motor Findings in Spinocerebellar Ataxia Type 17

    SU. Lee, JY. Choi, JM. Kim, JS. Kim (Seoul, Republic of Korea)

    Objective: To delineate the ocular motor findings in spinocerebellar ataxia type  17 (SCA17). Background: Even though the ocular motor findings largely overlap among spinocerebellar ataxia (SCA),…
  • 2018 International Congress

    Urodynamic findings in a cohort of patients with SCA7 reporting lower urinary tract symptoms

    T. Uchiyama, J. Ribeiro, P. Giunti, P. Georgopoulos, M. Pakzad, R. Sakakibara, S. Kuwabara, K. Hirata, J. Panicker (Chiba, Japan)

    Objective: To evaluate the urodynamic findings in a cohort of patients with Spinocerebellar Ataxia Type 7 (SCA7) reporting lower urinary tract symptoms. Background: SCA7 is…
  • 2018 International Congress

    Changes in balance and gait after a single session of combined cerebellum and primary motor cortex transcranial direct current stimulation (tDCS) in a person with SCA1

    M. León, P. Chaná (Santiago, Chile)

    Objective: To examine whether a single session of cerebellum and motor cortex (tDCS) stimulation associated with specific training of balance skills could change balance and…
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