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

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Articles tagged "Spinocerebellar ataxia"

  • 2024 International Congress

    Case Report Functional Neurological Disorder as a Harbinger of Spinocerebellar Ataxia 8

    S. Jimsheleishvili, D. Crandon, J. Margolesky (Miami, USA)

    Objective: - Background: Functional neurologic disorder (FND) can be a precursor to neurodegeneration. FND is reported as a risk for developing Parkinson’s disease (PD) [1,3].…
  • 2023 International Congress

    Argentine Translation and Adaptation of the Scale for the Assessment and Classification of Ataxia (SARA)

    J. Fernández Boccazzi, N. Gonzalez Rojas, M. Cesarini, G. da Prat, J. Etcheverry, E. Gatto (Buenos Aires, Argentina)

    Objective: Translate and cross-culturally adapt this instrument into Spanish and to carry out a pilot test for its subsequent validation in this language. Background: Ataxias…
  • 2023 International Congress

    Association of Early and late age of onset with Mitochondrial DNA haplogroup in Indian Spinocerebellar Ataxia type- 2 patients.

    A. Sonakar, M. Srivastava, M. Faruq, A. Srivastava (NEW DELHI, India)

    Objective: To explore the role of mtHaplogroups in early and late onset SCA2 patients. Background: An unstable expansion of a CAG tract in the ATXN2…
  • 2023 International Congress

    Cerebellar volumetry in SCA1, SCA3, SCA6, MSA-C, and SAOA

    M. Ferreira, T. Schaprian, T. Klockgether, J. Faber (Bonn, Germany)

    Objective: We aim to identify volume differences in the cerebellum between spinocerebellar ataxia type 1 (SCA1), SCA3, SCA6, multiple-system atrophy, cerebellar type (MSA-C), and sporadic…
  • 2023 International Congress

    Spinocerebellar Ataxia Autosomal Recessive Type 10 Misdiagnosed as a Multiple System Atrophy Type C: a Case Report.

    S. Gallo, M. Fabbri, F. Ory-Magne, O. Rascol (Toulouse, France)

    Objective: Spinocerebellar ataxia autosomal recessive type 10 (SCAR 10) is a very rare cause of slowly progressive cerebellar ataxia caused by mutations of ANO10 gene…
  • 2023 International Congress

    Expanding the clinical phenotype of ataxia associated with PMPCA mutations

    E. Sanesteban Beceiro, A. Fernández Revuelta, R. García-Ramos, E. López Valdés, M. Fenollar Cortés, F. Alonso Frech (Madrid, Spain)

    Objective: To describe two probable cases of autosomal recessive ataxia associated with mutations in the PMPCA gene (ATX-PMPCA) secondary to novel compound heterozygous variants. Background:…
  • 2023 International Congress

    Disease progression of spinocerebellar ataxia types 1, 2, 3, and 6 before and after ataxia onset: a joint analysis of two longitudinal cohort studies

    H. Jacobi, T. Schaprian, M. Schmid, T. Klockgether (Heidelberg, Germany)

    Objective: The aim was to model the evolution of ataxia and neurological symptoms in SCA1, SCA2, SCA3, and SCA6 over the entire disease span and…
  • 2023 International Congress

    Studies on mitochondrial dysfunction in the peripheral blood mononuclear cells in an ethnic Indian population of SCA 12 patients

    S. Ansari, J. Rungta, R. Pal, S. Choudhury, R. Banerjee, S. Dey, H. Kumar (Kolkata, India)

    Objective: We chose important mitochondrial genes such as ndufs5, tim22, fis1, dnm1l to understand the alterations in mitochondrial function in the peripheral blood mononuclear cells…
  • 2023 International Congress

    Frequency of SCA 2, 3 and 7 in Slovak patients with spinocerebellar ataxia – first report of SCA2 patient from Slovakia

    M. Ostrozovicova, V. Turchetti, M. Rizig, J. Necpal, V. Han, Z. Gdovinova, H. Houlden, M. Skorvanek (Kosice, Slovakia)

    Objective: The aim of this study is to investigate the frequency of spinocerebellar ataxia (SCA) 2, 3 and 7 among Slovak patients with cerebellar ataxia…
  • 2023 International Congress

    Diffusion Tensor Imaging of Spinocerebellar ataxia type 12 patients in comparison of Healthy control

    AK. Srivastava, P. Pankaj, S. Kumaran, A. Garg, R. Agarwal, A. Nehra, F. Mohammad (New Delhi, India)

    Objective: To assess changes in brain tissue microstructures using diffusion tensor imaging parameters, fractional anisotropy (FA), increased radial (RD) and axial diffusivities (AD) in SCA…
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