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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

    Deep Brain Stimulation of bilateral ventral intermediate nucleus in a patient with spinocerebellar ataxia type 12

    YM. Sun, LQ. Lang, B. Shen, J. Hu, JJ. Wu (Shanghai, China)

    Objective: To treat the medication-resistant tremor of SCA12 by Deep brain stimulation (DBS) Background: Action tremor might be the most prominent feature of SCA12 patient…
  • 2024 International Congress

    Expanding the Phenotype of a Novel Mutation in ELOVL4 and the Differential Diagnosis of the Hot Cross Bun Sign

    G. Olmedo Saura, C. Pont Sunyer, I. Navalpotro Gomez, S. Bernal Noguera, B. Rodriguez Santiago, D. Guisado-Alonso, J. Pagonabarraga, C. García Sánchez, J. Kulisevsky, J. Perez Perez (Barcelona, Spain)

    Objective: To describe the clinical and radiological characteristics of three independent families affected by SCA 34 due to a recently identified mutation in ELOVL4. Background:…
  • 2024 International Congress

    iPSC-Based Modeling of SCA12 for Targeted Therapeutic Screening

    B. Reddy, A. Gerutshang, R. Roy, R. Banerjee, S. Chowdhury, H. Kumar, S. Chattarji (Kolkata, India)

    Objective: 1. To identify a cohort of genetically confirmed SCA12 patients of Indian origin, derive iPSCs, progenitor cells and neurons from peripheral blood samples2. To…
  • 2024 International Congress

    Atypical spinocerebellar ataxia (SCA) type 16 as initial presenting migraine and mild ataxia with cerebellar atrophy

    W. Yoon (Seoul, Republic of Korea)

    Objective: Our aim is to report an atypical case of initial manifestation of spinocerebellar ataxia type 16, which showed migraine and mild ataxia with cerebellar…
  • 2024 International Congress

    Spinocerebellar Ataxia 34: ELOVL4 Recurrent Mutation in a Different Family

    K. Makhoul, R. Ramdhani (Little Neck, USA)

    Objective: We present a rare case of Spinocerebellar Ataxia 34 (SCA 34) in a Vietnamese patient. Background: SCA 34 is a subtype of Spinocerebellar Ataxia…
  • 2024 International Congress

    Transcranial Direct Current Stimulation and Neurofunctional Physical Therapy Improves Motor and Cognitive Symptoms in a Patient with Type 1 Spinocerebellar Ataxia – A Case Report

    C. Bedeschi, P. Junior (Barueri, Brazil)

    Objective: The aim of this research was to develop and verify the effects of a Non-Invasive Neuromodulation protocol associated with Neurofunctional Physiotherapy on motor functions,…
  • 2024 International Congress

    White Matter Tractography in Spinocerebellar Ataxia type 1 and 2 in comparison with Healthy Controls

    P. Pankaj, A. Srivastava, M. Kumar, S. Kumaran, A. Garg, R. Agarwal, A. Nehra (New Delhi, India)

    Objective: To assess and quantify microstructural white matter atrophy in brain of spinocerebellar ataxia (SCA) types SCA1 and SCA2 patients in comparison with healthy subjects.…
  • 2024 International Congress

    Non Classified Spinocerebellar Ataxia-like Syndrome due to GYG-1 gene mutation with TPM3, GEMIN5 and DES mutations in a Peruvian family

    W. Trillo Alvarez, A. Escalante Mercado, D. Hito Cano, L. Delgado Villanueva, K. Choque Pereyra, E. Carrillo Monteagudo, P. Gonzales Romero (Arequipa, Peru)

    Objective: To report a GYG1 mutation in a Peruvian family presenting as a non classified Spinocerebellar Ataxia (SCA) with added GEMIN5, DES and TPM3 mutations.…
  • 2024 International Congress

    Case Report of Spinocerebellar Ataxia 13 Presenting with Pure Cerebellar Ataxia

    S. Park (Daejeon, Republic of Korea)

    Objective: We report the spinocerebellar ataxia 13 (SCA13) patient who demonstrated childhood-onset pure cerebellar ataxia. Background: SCA13 is a rare cause of autosomal-dominant cerebellar ataxia,…
  • 2024 International Congress

    Tremulous Machado-Joseph Disease

    V. Procaci, L. de Farias, S. da Costa, O. Barsottini, J. Pedroso (Sao Paulo, Brazil)

    Objective: To describe a case of spinocerebellar ataxia type 3 (SCA3) presenting with tremor. Background: Tremor is not a frequent manifestation in SCA3, especially as…
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