MDS Abstracts

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

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Articles tagged "Ataxia: Genetics"

  • 2018 International Congress

    Transcriptional profiling of peripheral blood monocytes from child Friedreich’s ataxia patient: New molecules and patterns of gene expression

    H. Singh, V. Swarup, R. Singh, I. Singh, M. Faruq, S. Vivekanandhan, A. Srivastava (Delhi, India)

    Objective: To explore peripheral biomarkers related to Friedreich's ataxia and identification of pathophysiological insights of complex phenotype Background: Friedreich's ataxia(FRDA) causes nervous system damage and…
  • 2018 International Congress

    Loss of paraplegin drives spasticity rather than ataxia in SPG7: A European cohort analysis of 238 patients

    G. Coarelli, R. Schule, B. vande Warrenburg, P. de Jonghe, C. Ewenczyk, A. Martinuzzi, M. Synofzik, E. Hamer, J. Baets, M. Anheim, L. Schöls, T. Deconinck, B. Fontaine, T. Klockgether, MG. D'Angelo, ML. Monin, P. Charles, MT. Bassi, T. Klopstock, E. Ollagnon-Roman, C. Kamm, M. Papin, CS. Davoine, G. Banneau, S. Tezenasdu Montcel, D. Seilhean, A. Brice, C. Duyckaerts, G. Stevanin, A. Durr (Paris, France)

    Objective: The aim of this work was to delineate the clinical phenotype of SPG7 patients, integrating genetic data and follow-up examinations, taking advantage of a…
  • 2018 International Congress

    Clinical and mutation spectrum of Ataxia with oculomotor apraxia-2: An Indian perspective

    S. Shakya, M. Faruq, A. Srivastava, I. Singh, A. Garg, R. Rajan, V. Goyal (New Delhi, India)

    Objective: To report clinical and mutation spectrum of AOA2 in Indian population Background: The Autosomal Recessive Cerebellar Ataxias (ARCAs) are less explored in Indian population.…
  • 2017 International Congress

    Indian ARSACS (Autosomal Recessive Spastic Ataxia of Charlevoix- Saugenay): Clinical report of the first genetically proven case from India, due to a novel SACS duplication

    P. Agarwal (Mumbai, India)

    Objective:  Objective: To report clinical, imaging and genetic findings in a case of ARSACS from India Background: ARSACS was described initially from Quebec, Canada, and later…
  • 2017 International Congress

    Spinocerebellar Ataxia type 11 in a Hispanic Kindred

    D. Machado, J.A. deMarcaida (Vernon, CT, USA)

    Objective: To present the clinical profiles of two siblings with SCA11 who are of Hispanic origin. Background: Spinocerebellar ataxia type 11 (SCA11) is an autosomal…
  • 2017 International Congress

    Pure ATXN10 repeat expansion causes Parkinson’s disease

    F. Jimenez Gil, K. McFarland, K. Lee, Y.-C. Tsai, C. Byrne, R. Gopi, N. Huang, J. Langston, T. Clark, T. Ashizawa, B. Schuele (Guadalajara, Jalisco, Mexico)

    Objective: Clinical and genetic characterization of a multigenerational family with spinocerebellar ataxia type 10 (SCA10) and parkinsonism. Background: Pentanucleotide repeat expansions of ATTCT in intron…
  • 2017 International Congress

    Characterization of GNB1 mutations as a cause of global developmental delay in combination with dystonia, ataxia, or chorea in children

    H. Baumann, I. Masuho, D. Patil, S. Steinruecke, E. Hebert, V. Dobricic, I. Huening, G. Gillessen-Kaesbach, A. Westenberger, D. Savic-Pavicevic, A. Muenchau, C. Klein, A. Rolfs, K. Martemyanov, K. Lohmann (Luebeck, Germany)

    Objective: To investigate the phenotypic and genotypic spectrum of GNB1 (guanine nucleotide-binding protein, beta 1) mutations and to functionally evaluate their pathogenicity. Background: Global developmental…
  • 2017 International Congress

    CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia

    N. Brüggemann, V. Tadic, C. Klein, A. Münchau, K. Lohmann (Lübeck, Germany)

    Objective: To report a new family with combined spasticity and ataxia harboring mutations in the CAPN1 gene. Background: Hereditary spastic paraplegias (HSPs) are a heterogeneous group…
  • 2017 International Congress

    Clinical and genetic analysis of ataxic patients with CACNA1A mutations in Taiwan

    P.-Y. Fong, S.-C. Lai, T.-H. Yeh, C.-S. Lu (Taoyuan City, Taiwan)

    Objective: To study the clinical presentation of ataxic patients with CACNA1A mutations in a Taiwanese cohort. Background: Mutations of CACNA1A gene is the genetic cause…
  • 2017 International Congress

    Genotype-Phenotype correlations and expansion of the molecular spectrum of AP4M1-related Hereditary Spastic Paraplegia

    S. Efthymiou, C. Bettencourt, V. Salpietro Damiano, H. Houlden (London, United Kingdom)

    Objective: To identify possible novel variants in a HSP family from Greece.  Background: Autosomal recessive hereditary spastic paraplegia (HSP) due to AP4M1 mutations is a…
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