MDS Abstracts

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

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Articles tagged "Ataxia: Clinical features"

  • 2024 International Congress

    Increased Risk of Suicidal Ideation in Patients with Spinocerebellar Ataxias

    C. Lin, L. Peppel, R. Lai, C. Rummey, P. Opal, J. Schmahmann, C. Gomez, H. Paulson, T. Zesiewicz, S. Perlman, G. Wilmot, S. Ying, C. Onyike, K. Bushara, M. Geschwind, K. Figueroa, S. Pulst, S. Subramony, A. Duquette, T. Ashizawa, A. Hamedani, M. Davis, S. Srinivasan, M. Burns, L. Moore, V. Shakkottai, L. Rosenthal, S. Kuo (Houston, USA)

    Objective: We aimed to investigate if individuals with spinocerebellar ataxias (SCAs) experience increased suicidal ideation and to identify associated factors. Background: Suicidality has been extensively…
  • 2024 International Congress

    Friedreich’s ataxia: A descriptive study of a Tunisian cohort

    L. Hlioui, R. Zouari, MZ. Saied, D. Ben Mohamed, A. Rachdi, R. Amouri, S. Ben Sassi (Tunis, Tunisia)

    Objective: we aim to describe the clinical, radiological and electrophysiological features of Friedreich's ataxia (FA) in our population. Background: FA is the most common autosomal…
  • 2024 International Congress

    Phenotypic spectrum and natural history of POLR3A-associated spastic ataxia

    E. Jung, J. Infante, S. Satolli, F. Santorelli, M. Minnerop, S. Klebe, B. Warrenburg, J. Muñoz, A. Fellner, J. de Winter, A. O'Connor, J. Baets, S. Murphy, M. Ruiz Sales, A. Pujol Onofre, L. Ruggiero, G. Coarelli, A. Dürr, X. Kobeleva, C. Stendel, T. Klopstock, F. Nicita, E. Bertini, Q. Thomas, Y. Goldberg, E. Kogan, L. Basel-Salmon, A. Lossos, Z. Argov, A. de Munain, L. Schöls, R. Schüle (Heidelberg, Germany)

    Objective: To foster trial-readiness, we delineate the full phenotypic spectrum and provide piloting longitudinal natural progression data of POLR3A-associated spastic ataxia in a large international cohort.…
  • 2024 International Congress

    Syndrome of Progressive Ataxia with Palatal Tremors (PAPT) with Hypertrophied Bilateral Inferior Olives in a young Indian Female

    P. Saroja Bylappa, D. Garg, A. Agarwal, A. Garg, A. Srivastava (New Delhi, India)

    Objective: To report and extend the clinical and radiological features of Progressive Ataxia and Palatal Tremors (PAPT) syndrome. Background: Hypertrophic degeneration of olivary nucleus is…
  • 2023 International Congress

    Clinical Phenotypes and Imaging Localization of Movement Disorders after Acute Stroke

    E. Samra, T. Roushdy, A. Saeed, A. Mansour, A. Elbassiouny, A. Shalash (Kafr Elsheikh, Egypt)

    Objective: Objective: The aim of this study was to identify MD in a sample of acute stroke patients and to determine their frequency, clinical characteristics,…
  • 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…
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