MDS Abstracts

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

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Articles tagged "Dystonia: Genetics"

  • MDS Virtual Congress 2020

    KMT2B-related disorders: Expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

    L. Cif, D. Demailly, J. Lin, K. Barwick, D. Steel, M. Sa, N. Dorison, D. Doummar, L. Lion François, P. Coubes, K. Gorman, M. Kurian (Pierre-Bénite, France)

    Objective: Clarifying clinical phenotype, molecular genetic features and evolution with deep brain stimulation (DBS) of KMT2B related disease. Background: Heterozygous mutations in KMT2B are associated…
  • MDS Virtual Congress 2020

    Botulinum Toxin dose optimization in pediatric DYT1 type Focal Hand Dystonia and tremor

    A. Lin, K. Set (Dayton, OH, USA)

    Objective: We diagnosed a rare pediatric case of genetic focal hand dystonia (FHD) with dystonic tremor and optimized Onabotulinum Toxin A injection treatment dosing. Background:…
  • MDS Virtual Congress 2020

    Novel GNO1 mutation in monozygotic twins responsive to DBS

    B. Bulica (West Bloomfield, MI, USA)

    Objective: GNAO1 is located on chromosome 16q12.2 and encodes Gα0 subunit of the heterotrimeric guanine-binding protein necessary for neuronal signaling. It is thought that loss-of-function GNAO1…
  • MDS Virtual Congress 2020

    Phenotypic analysis of subjects with homozygous and compound heterozygous PANK2 mutations in a single extended pedigree from the Dominican Republic (DR) PKAN cohort

    F. Middleton, C. Muniz, I. Ojukwu, M. Santana Jimenez, P. Stoeter, R. Ericson, A. Espinoza, C. Bass, P. Roa, S. Baser (Santo Domingo, Dominican Republic)

    Objective: Whole exome sequencing and genotypic screening of homozygous and heterozygous PANK2 mutations in the Dominican Republic. Background: PKAN affects 1 in 1,000,000 people worldwide,…
  • MDS Virtual Congress 2020

    Mutation screening and clinical features analysis in patients with early-onset primary dystonia

    X.J Gu, J. Yang, L.Y Zhang, QQ. Wei, H.F Shang (Chengdu, China)

    Objective: In this context, it is important to reveal the mutation frequency of primary dystonia related genes using target dystonia related gene panel among a…
  • MDS Virtual Congress 2020

    Comprehensive Screening of Genetic, Genomic, Mitochondrial, and Microbiome Associations with Phenotypic Measures in the Dominican Republic PKAN Cohort

    C. Muniz, S. Baser, C. Bass, R. Ericson, A. Espinoza, I. Ojukwu, A. Brindle, M. Santana Jimenez, F. Middleton (Santo Domingo, Dominican Republic)

    Objective: Establish novel molecular predictors of phenotypic variation using screening of genomic, transcriptomic, mitochondrial, microbiome, and clinical features. Background: Pantothenate Kinase Associated Neurodegeneration (PKAN), also…
  • MDS Virtual Congress 2020

    Frequency and phenotypic spectrum of ANO3 dystonia: A single-center cohort study

    L.T Jiang, L.X Li, Y. Liu, X.L Zhang, Y.G Pan, L.J Jin (Shanghai, China)

    Objective: To further clarify the spectrum and frequency of ANO3 rare variants in Chinese populations with primary dystonia. Background: Dystonia is a movement disorder with…
  • MDS Virtual Congress 2020

    KMT2B-related dystonia (DYT28) and Klippel-Feil Syndrome: A new association?

    D. Portela, M. Correa, M. Gomes, G. Noleto, C. Costa, J. Lopes, L. de Oliveira (Teresina, Brazil)

    Objective: To report the association of lysine-specific histone-methyltransferase 2B gene (KMT2B)-related dystonia (DYT28) and Klippel-Feil Syndrome (KFS). Background: Dystonia is a hyperkinetic movement disorder characterized…
  • MDS Virtual Congress 2020

    A case of generalized early-onset dystonia with a novel low-penetrant THAP1 missense variant

    I. Keller Sarmiento, A. Fraint, L. Kinsley, S. Lubbe, N. Mencacci, T. Simuni, D. Krainc (Chicago, IL, USA)

    Objective: To present a new case with generalized dystonia carrying a novel heterozygous likely pathogenic THAP1 variant associated with reduced penetrance Background: Dystonia is a…
  • MDS Virtual Congress 2020

    Recessive CWF19L1 mutations in a family with dystonia-ataxia syndrome

    S. Weber, M. Zech, S. Boesch, J. Winkelmann (Kassel, Germany)

    Objective: To enrich the limited clinical and genetic data of an extremely rare recessive ataxia subtype. Background: Advances in NGS techniques led to an increase…
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