MDS Abstracts

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

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  • 2019 International Congress

    A novel intronic pentanucleotide TTTGA repeat insertion in SAMD12 causes familial cortical myoclonic tremor with epilepsy type 1

    ZD. Cen, Y. Chen, S. Chen, XH. Chen, B. Wang, F. Xie, OY. Zhiyuan, ZW. Jiang, AS. Fu, B. Hu, HM. Yin, X. Qiu, F. Yu, XP. Du, WC. Has, YX. Liu, HT. Wang, DH. Yang, LB. Wang, CY. Liu, JF. Xiao, BR. Zhang, W. Luo (Hangzhou, China)

    Objective: To identify the genetic cause in a familial cortical myoclonic tremor with epilepsy (FCMTE) pedigree without reported pathogenic(TTTCA)n insertions. Background: FCMTE is an autosomal…
  • 2019 International Congress

    BeaT-PD, An Industry-Academic Collaboration to Understand PD Progression in Ashkenazi Jews

    N. Giladi, A. Orr-Urtreger, M. Gana-Weisz, A. Thaler, O. Goldstein, M. Lalioti, K. Evans, M. Hutchison, O. Mabrouk, A. Dowling, T. Fox, M. Yang, K. Parekh, E. Even Sapir, D. Ben Baast, M. Artzi, H. Lerman, L. Yachimovich, B. Cohen, S. John, A. Mirelman, J. Cederbaum (Tel Aviv, Israel)

    Objective: Establish an Industry-Academic collaboration to identify factors contributing to disease progression in PD. Background: Ashkenazi Jews (AJ) are an excellent ethnic group in which…
  • 2019 International Congress

    Development of a web-based tool for systematic collection of phenotypes of hereditary movement disorders from medical literature

    J. Lee, S. Fujioka, S. Hong, N. Kim, Y. Kim, H. Ma, Y. Tsuboi, Y. Kim (Anyang, Republic of Korea)

    Objective: To develop a web-based tool to collect phenotypes of heterditary movement disorders. Background: Deep phenotyping, the precise and comprehensive analysis of phenotypic abnormalities, is…
  • 2019 International Congress

    Parkinson’s disease patients with both GBA and LRRK2 mutations are phenotypically similar to LRRK2 – a possible protective effect?

    N. Omer, A. Thaler, L. Goldstein, A. Orr-Urtreger, M. Gana Weisz, O. Goldstein, D. Cohen Avinoam, M. Kestenbaum, M. Lioti, S. John, J. Cederbaum, A. Mirelman, N. Giladi (Tel Aviv, Israel)

    Objective: To compare the phenotype of patients with Parkinson's disease (PD) who carry dual mutation in both LRRK2 and GBA genes with patients with PD…
  • 2019 International Congress

    Genetic polymorphism (rs6971) in translocator protein (TSPO) and its clinical relevance in Parkinson’s disease

    P. Surathi, M. Matarazzo, A. Sethi, J. Mckenzie, N. Neilson, R. Ross, M. Schulzer, M. Farrer, S. Booromand, J. Stoessl (Vancouver, BC, Canada)

    Objective: The objective of this study will be to identify specific clinical patterns in Parkinson’s disease patients with respect to TSPO genetic polymorphism (rs69711). Background:…
  • 2019 International Congress

    Characterization of cerebrospinal fluid profile in hereditary spastic paraparesis 10

    M. Andréasson, K. Lagerstedt-Robinson, K. Samuelsson, G. Solders, K. Blennow, M. Paucar, P. Svenningsson (Stockholm, Sweden)

    Objective: Perform a comprehensive clinical characterization and biochemical cerebrospinal fluid (CSF) profile analyses in two Swedish families with hereditary spastic paraparesis 10 (SPG10) caused by…
  • 2019 International Congress

    Prevalence of Oropharyngeal Dysphagia in Hereditary Spastic Paraplegias

    L. Jacinto-Scudeiro, G. Machado, A. Ayres, D. Burguêz, M. Polese-Bonatto, C. González-Salazar, M. Siebert, M. França Jr, M. Olchik, J. SAUTE. (Porto Alegre, Brazil)

    Objective: We aimed to assess the prevalence of swallowing disorder and to characterize the main clinical signs of dysphagia in genetically confirmed HSP patients. Background:…
  • 2019 International Congress

    PEX 16: EXPANDING THE CLINICAL SPECTRUM OF PEROXISOMAL BIOGENESIS DISORDERS

    D. N, J. Agadi (Bangalore, India)

    Objective: IDENTIFICATION OF A NOVEL PEX 16 GENE MUTATION IN A YOUNG PATIENT WITH SLOWLY PROGRESSIVE ATAXIA AND SPASTICITY. Background: PEROXISOMAL BIOGENESIS DISORDERS(PBD)  ARE CHARACTERIZED…
  • 2019 International Congress

    Acquired hepatocerebral degeneration treated with calcium disodium edetate chelation

    Z. Voysey, L. Azzopardi, B. Fiddes, S. Bradberry (Romford, United Kingdom)

    Objective: To evaluate the efficacy of calcium disodium edetate (CaNa2EDTA) chelation as a treatment for acquired hepatocerebral degeneration. Background: Acquired hepatocerebral degeneration is a rare…
  • 2019 International Congress

    Texas Biorepository of Human Induced Pluripotent Stem Cells for Studying Parkinson’s Disease

    S. Wijemanne, H. Hong, G. Choudhury, J. Kim, J. Ramirez-Castaneda, A. Papanastassiou, M. Daadi (San Antonio, TX, USA)

    Objective: To develop a biorepository of human induced pluripotent stem cells for studying Parkinson’s disease(PD). Background: Genetically engineered stem cells called “induced pluripotent stem cells”…
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