MDS Abstracts

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

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Articles tagged "Ataxia: Etiology and Pathogenesis"

  • 2022 International Congress

    Diagnostic yield for point mutation related SCAs through exome sequencing for undetermined ataxias

    JL. Pedroso, T. Silva, M. França Jr, O. Barsottini (São Paulo, Brazil)

    Objective: To describe the diagnostic yield of whole exome sequencing (WES) to identify autosomal dominant spinocerebellar ataxias (SCAs) caused by point mutations. Background: There are…
  • 2022 International Congress

    A systematic review of Movement Disorders in COVID-19

    K. Pillai, S. Mishra, G. Siripurapu, A. Aliyar, R. Rajan, A. Srivastava, D. Radhakrishnan (Kochi, India)

    Objective: We conducted a systematic review to describe the frequency, clinical profile and outcomes of patients with SARS-CoV-2 associated movement disorders. Background: SARS-CoV-2 is associated…
  • 2022 International Congress

    Whole exome sequencing identifies novel variants underlying Ataxia with Oculomotor Apraxia type 1 in Pakistani consanguineous families

    S. Saadi, E. Cali, S. Efthymiou, S. Khan, A. Khan, J. Alvi, T. Sultan, M. Tariq, N. Malik, M. Breza, H. Houlden, S. Group, S. Baig (Faisalabad, Pakistan)

    Objective: To investigate the underlying pathogenic variants in four consanguineous Pakistani families segregating Ataxia with Oculomotor Apraxia type 1 Background: Ataxia with Oculomotor Apraxia type 1…
  • 2022 International Congress

    Giant symptomatic capillary telangiectasia: uncommon cause of cerebellar ataxia

    A. Fernández Revuelta, V. Gómez Mayordomo, M. Hernández Holgado, M. Fernández García, A. Baltasar Corral, E. López Valdés, R. García-Ramos (Madrid, Spain)

    Objective: We present a case of a patient with adult-onset cerebellar ataxia and palatal tremor secondary to an uncommon vascular cause. Background: Capillary telangiectasias (CT)…
  • 2022 International Congress

    Leading Therapeutic Molecules Target Transcription Factors Binding to Repressor Region in FXN Gene

    V. Swarup, H. Singh, D. Gupta, I. Singh, A. Srivastava (New Delhi, India)

    Objective: To investigate interactions of transcription factors (TFs) binding to repressor region located upstream to FXN gene with leading therapeutic molecules. Background: Low levels of…
  • MDS Virtual Congress 2021

    Myoclonus, Tremor, and Ataxia After COVID-19 Infection

    B. Dorfman, W. Tse (New York, USA)

    Objective: We report a case of myoclonus, tremor, and ataxia after COVID-19 infection with improvement in myoclonus after treatment with levetiracetam. Background: Neurologic manifestations of…
  • MDS Virtual Congress 2021

    Covid-19 associated Opsoclonus-Myoclonus Syndrome with encephalopathy

    A. Tageldin, L. White, M. Ellul, V. Bharambe, B. Michael, M. Bonello, S. Alusi (Southport, United Kingdom)

    Objective: To investigate whether the encephalopathy associated with the opsioclonus myoclonus syndrome in COVID-19 is likely to be parainfections. Background: Adult onset opsoclonus myoclonus syndrome…
  • MDS Virtual Congress 2021

    Progression of nigro-striatal denervation in cerebellar Multiple System Atrophy: a prospective study

    T. Wirth, I. Namer, B. Monga, C. Bund, A. Iosif, O. Gebus, S. Montaut, T. Bogdan, L. Robelin, M. Renaud, S. Kremer, C. Tranchant, M. Anheim (Strasbourg, France)

    Objective: To study the progression of nigro-striatal denervation and evaluate the capacity for [123I]-FP-CIT-SPECT and parkinsonian signs to differentiate MSA-C from idiopathic late-onset cerebellar ataxia…
  • MDS Virtual Congress 2021

    A case of GAD ataxia and stiff leg syndrome

    S. Kalampokini, A. Artemiadis, P. Zis, P. Bargiotas, G. Hadjigeorgiou (Nicosia, Cyprus)

    Objective: Stiff person syndrome and cerebellar ataxia are immunological neurological syndromes associated with the presence of glutamic acid decarboxylase (GAD) antibodies. Background: Patients with GAD…
  • MDS Virtual Congress 2021

    Clinical and imaging features of idiopathic cerebellar ataxia with anti-cerebellar antibodies

    A. Takekoshi, A. Kimura, N. Yoshikura, T. Shimohata (Gifu, Japan)

    Objective: The current study sought to determine whether autoimmunity can account for some cases of IDCA. Background: Idiopathic cerebellar ataxia (IDCA) is the clinical-based term…
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