MDS Abstracts

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

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Articles tagged "Dystonia: Genetics"

  • MDS Virtual Congress 2021

    MOVEMENT DISORDERS IN CHILDREN WITH ATP1A3 GENE MUTATIONS. A SERIES OF CHILEAN PATIENTS

    M. Troncoso, D. Munoz, V. Naranjo, M. Matamala, J. Tello, S. Witting, A. Barrios, M. Hidalgo, I. Ruiz (Santiago, Chile)

    Objective: Describe the most frequent abnormal movements, their association with other symptoms, and the response to treatment in 4 children with ATP1A3 gene mutations. Background:…
  • MDS Virtual Congress 2021

    A novel variant [c.2974G>A; (p.Asp992Asp)] of DYT/PARK-ATP1A3

    R. Baviera-Muñoz, M. Campins-Romeu, I. Sastre-Bataller, M. Losada-López, J. Pérez García, E. Novella-Maestre, I. Martinez-Torres (Valencia, Spain)

    Objective: To describe the clinical presentation of a novel likely pathogenic variant in ATP1A3. Background: Rapid onset dystonia-parkinsonism is related to mutations in ATP1A3 gene.…
  • MDS Virtual Congress 2021

    Childhood-Onset Hemidystonia: A Transportophaty related to SLC6A3 missense mutation

    G. Prado-Miranda, K. Salinas-Barboza, JM. Altamirano, AA. Alvarado-Bolaños (Mexico City, Mexico)

    Objective: To present the case of a childhood-onset hemidystonia carrying a homozygous SLC6A3 missense mutation. Background: Dystonia is a movement disorder characterized by sustained or…
  • MDS Virtual Congress 2020

    A New Complex dystonic presentation of a rare gene – CACNA1B and its response to Levodopa

    S. Medarametla, B. Nataraju, S. Kodapala, S. Raju (Bangalore, India)

    Objective: We report a case of complex dystonia with the rare gene- CACNA1B. Background: CACNA1B gene has previously been reported as the cause of myoclonus-…
  • MDS Virtual Congress 2020

    Late-Onset Dopa-Responsive Dystonia: A Case Report

    O. Oztop Cakmak, S. Ertan, S. Tekgul, N. Basak (Istanbul, Turkey)

    Objective: To present a rare cause of treatable dystonia with onset during adulthood. Background: L-Dopa-responsive dystonia is an inherited disorder characterized by early-onset dystonia affecting…
  • MDS Virtual Congress 2020

    De-novo ß-actin mutation as a cause of seemingly sporadic dystonia-deafness syndrome responsive to deep-brain stimulation

    N. Schell, J.K Krauss, A. Saryyeva, C. Klein, N. Brüggemann (Luebeck, Germany)

    Objective: To elucidate the cause of dystonia and deafness in a 37-year-old woman and to evaluate the response to deep brain stimulation (DBS). Background: Dystonia-deafness…
  • MDS Virtual Congress 2020

    Movement Disorders in the Plain People

    Z. Ammous (Topeka, IN, USA)

    Objective: Genomic discovery often occurs in large institutions, but the contribution of small, rural genetics clinics must not be overlooked. While rare, these rural genetics…
  • MDS Virtual Congress 2020

    Movement disorders associated with expansions and intermediate repeats in the C9orf72 gene

    C. Estevez-Fraga, F. Magrinelli, A. Latorre, S. Tabrizi, H. Houlden, K. Bhatia (London, United Kingdom)

    Objective: This work sought to investigate the frequency and characteristics of movement disorders (MD) associated with repeat expansions or intermediate repeats in the C9orf72 gene.…
  • MDS Virtual Congress 2020

    First Scientific Description of the Hepato-Lenticular Degeneration

    D. Labunskiy, S. Kiryukhina, N. Kolmykova (Saransk, Russian Federation)

    Objective: Hepato-Lenticular Degeneration (HLD) first described by German pathologist Friedrich Theodor von Frerichs in 1854, but in the West it called Wilson's Disease. In Russia…
  • MDS Virtual Congress 2020

    Concurrent SCA3 and SCA10 in a young man with ataxia and prominent dystonia

    A. Badiei, R. Saunders-Pullman, I. Bledsoe (San Francisco, CA, USA)

    Objective: To describe a case of a man with pathogenic repeat expansions in both ATXN3 and ATXN10. Background: SCA3 is caused by abnormal polyglutamine repeat…
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