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

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Articles tagged "Spinocerebellar ataxias(SCA)"

  • 2024 International Congress

    Spinocerebellar Ataxia Type 49 presenting with Early onset Dystonia-Ataxia in an Indian Female

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

    Objective: To report the first Indian patient with SCA 49 who presented in the second decade and to expand the clinical phenotype to include dystonic…
  • 2024 International Congress

    Value of DaTSPECT in rare movement disorders: neurodegenerative diseases

    E. Ardila Jurado, L. Zünd-Hofer, F. Brugger, G. Kägi (St Gallen, Switzerland)

    Objective: To explore the expanding indications of dopamine transporter imaging (DaT Spect) beyond the established indications. Background: DaTSPECT is a well-established method to rule out…
  • 2024 International Congress

    Nonmotor symptoms in Spinocerebellar ataxia type 12 (SCA 12)

    S. Choudhury, P. Basu, S. Mondal, R. Banerjee, J. Ganguly, M. Tiwari, H. Kumar (Kolkata, India)

    Objective: To find the frequency and extent of depression, autonomic disturbances, and cognitive impairment in patients with SCA12 and exploring its association with motor symptoms…
  • 2023 International Congress

    Non classified SCA-like presentation of GEMIN5 + GYG-1 mutation. Case report

    A. Escalante Mercado, G. Calderon Paiva, J. Medina Suárez, P. Gonzales Romero, W. Trillo Alvarez, J. Calderon Paiva, P. Bermejo Rosado, A. Aquino Toledo, L. Chavez Torreblanca (Arequipa, Peru)

    Objective: To report the first case of a patient with GEMIN5 and GYG-1 genes mutations who presented with features of both SCA and myopathy. Background:…
  • 2023 International Congress

    Extended phenotypes of autosomal recessive cerebellar ataxia type 1: learn from a novel mutation of SYNE1 gene

    TL. Lee, CY. Chien, YT. Sun (Tainan, Taiwan)

    Objective: Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene have been reported to cause ARCA type 1 with a remarkable heterogeneity in clinical…
  • 2023 International Congress

    SpeechATAX: A rater blinded randomized controlled trial of intensive home-based biofeedback therapy for dysarthria in progressive ataxia

    A. Vogel, L. Graf, H. Reece, M. Magee, V. Soo, S. Braat, E. Petit, S. Borel, A. Durr, R. Roxburgh, M. Synofzik (Melbourne, Australia)

    Objective: To investigate the effectiveness of a digitized intensive home-based speech rehabilitation, SpeechATAX, in people with progressive hereditary ataxia. Background: The loss of the ability…
  • 2023 International Congress

    Genetic diagnosis of parkinsonian phenotype of Machado Joseph Diseasep (SCA-3) presenting with dopa induced dyskinesia

    D. Chaudhari, A. Mishra, P. Renjen, K. Ahmad, N. Sahu (New Delhi, India)

    Objective: We report a rare type IV parkinsonian phenotype of MJD having a rare genetic mutation. SCA type 3 (SCA3), also known as Machado-Joseph disease…
  • 2023 International Congress

    Reticulospinal tract integrity in patients with SCA12 having impairment of Corticospinal tract- a clinical and electrophysiological study

    SC. Choudhury, ABB. Bayen, SM. Majumdar, PB. Basu, MRB. Baker, SNB. Baker, HK. Kumar (Kolkata, India)

    Objective: Estimate the Reticulospinal tract (RST) activity using StartReact paradigm in patients of SCA12 with clinical and electrophysiological evidence of compromised corticospinal tract (CST) integrity. Background: Spinocerebellar…
  • 2023 International Congress

    Reaching kinematics in patients with Spinocerebellar Ataxia Type 12 using a markerless motion tracking system

    ABB. Bayen, SC. Choudhury, SM. Majumdar, PB. Basu, MRB. Baker, SNB. Baker, H. Kumar (KOLKATA, India)

    Objective: In the current study, we compared the kinematics of planar reaching movements between patients with Spinocerebellar Ataxia Type 12 (SCA12) and healthy control using…
  • 2023 International Congress

    Motor control of finger individuation and strength in patients with Parkinson’s disease and Spinocerebellar Ataxia type 12

    S. Majumdar, A. Bayen, S. Choudhury, P. Basu, M. Baker, S. Baker, H. Kumar (Kolkata, India)

    Objective: Compare finger individuation (FI) and maximum finger strength in healthy control, patients with Parkinson’s Disease (PD) and Spinocerebellar ataxia type12 (SCA12). We also examined…
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