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

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Articles tagged "Ataxia: Clinical features"

  • 2023 International Congress

    “Speaking aids in neurodegenerative ataxia: how to deal with own disability”

    C. Fernandes, I. Cunha, C. Gouveia, C. Rodrigues, F. Matias (Coimbra, Portugal)

    Objective: To highlight the role of self-initiated coping strategies in symptoms management of patients with neurodegenerative ataxia. Background: Ataxia is a neurological condition that manifests…
  • 2023 International Congress

    Novel CACNA1A splice site variant associated with cerebellar ataxia and mild cognitive impairment; case report of Czech family.

    A. Afifi, M. Nevrly, Z. Musova, P. Hedvicakova, K. Mensikova, P. Kanovsky (Olomouc, Czech Republic)

    Objective: To describe a case of two related individuals with cerebellar ataxia with a novel variant in the calcium voltage-gated channel subunit alpha1-A (CACNA1A) gene.…
  • 2023 International Congress

    Preparing for a clinical trial: a run-in natural history study in POLR3A-associated spastic ataxia with intronic mutations amenable to splice-modulating therapeutic approaches

    E. Jung, K. Manibarathi, I. Harting, S. Wolf, A. Aartsma-Rus, W. van Roon-Mom, M. Synofzik, H. Graessner, R. Schüle (Heidelberg, Germany)

    Objective: The aim of this study is the identification of progression and treatment response outcomes for POLR3A-associated spastic ataxia caused by the recurrent intronic c.1909+22G>A…
  • 2023 International Congress

    An elderly female with subacute cerebellar ataxia: A case report

    N. Pandey, A. Kumar, A. Ranjan (Patna, India)

    Objective: To report the case of a 62year old woman who presented with rapidly progressive ataxia. Background: Paraneoplastic cerebellar syndrome should be suspected in elderly…
  • 2023 International Congress

    Oculomotor findings in paraneoplastic neurological syndromes with cerebellar ataxia

    A. Milovanović, I. Basta, N. Kresojević, O. Tamaš, A. Tomić Pešić, I. Stanković Tutuš, M. Svetel, VS. Kostić, NT. Dragašević Mišković (Belgrade, Serbia)

    Objective: This study aimed to evaluate oculomotor disturbances in paraneoplastic cerebellar syndromes. Background: Paraneoplastic cerebellar syndrome is an immune-mediated disorder triggered by neoplastic lesion in…
  • 2023 International Congress

    Clinical spectrum, imaging characteristics and care giver burden assessment of early onset non-dominant progressive cerebellar ataxias

    R. Devaraj, P. Pal, N. M, RY. Yadav, M. Faruq, J. Saini, S. Hegde (Bangalore, India)

    Objective: To characterise the phenotypic and radiological spectrum of patients with early onset non-dominant progressive cerebellar ataxias and to assess the impact of the disease…
  • 2023 International Congress

    atrophy of cranial nerves v and viii is a hallmark of rfc1-related disorder

    C. Lobo, G. Wertheimer, T. Rezende, PC. Matos, L. Branco, J. Silva, F. Borba, O. Barsottini, JL. Pedroso, W. Marques Jr, M. França Jr (Campinas, Brazil)

    Objective: To assess the usefulness of cranial nerves V (CNV) and VIII (CNVIII) atrophy as a neuroradiological sign to differentiate RFC1-related disorder from spinocerebellar ataxias…
  • 2023 International Congress

    Presence of neuropathy in most frequent hereditary cerebellar ataxia SCA1, SCA2 and FRDA in Serbian population

    V. Marković, A. Milovanović, N. Mazalica, O. Tamaš, M. Ječmenica Lukić, A. Kačar, S. Perić, M. Svetel, VS. Kostić, NT. Dragašević Mišković (Belgrade, Serbia)

    Objective: The aim of our study is to determine the frequency and pattern of neuropathy in patients with the most frequent hereditary ataxias in Serbian…
  • 2023 International Congress

    Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia

    S. Gorcenco, E. Kafantari, J. Wallenius, C. Karremo, E. Alinder, S. Dobloug, M. Landqvist Waldö, E. Englund, H. Ehrencrona, K. Wictorin, K. Karrman, A. Puschmann (Lund, Sweden)

    Objective: In this study, we aimed to examine clinically and genetically a patient series with ataxia from southern Sweden with known or unknown genetic causes.…
  • 2023 International Congress

    COVID-19 associated opsoclonus myoclonus ataxia syndrome

    K. Petrosyan, L. Martirosyan, A. Papoyan, A. Ashughyan, S. Voskanyan (Yerevan, Armenia)

    Objective: To present a rare neurological syndrome as a potential parainfectious complication of SARS-CoV-2 infection. Background: Օpsoclonus myoclonus syndrome (OMS) is rare complication of the…
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