MDS Abstracts

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

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Articles tagged "Dystonia: Genetics"

  • 2018 International Congress

    Globus pallidus deep brain stimulation (GPi-DBS) in one patient with complex early-onset dystonia and KMT2B mutation: A case report

    O. Morsi, G. Valero, J. Jimenez, J. Lopez, AE. Baidez, B. Cuartero, M. Felipe, R. Sanchez, J. Zamarro (Murcia, Spain)

    Objective: To assess long term results of GPi-DBS in one patient with generalized dystonia with KMT2B mutation. Background: Mutations in heterozygosis of the KMT2B gene,…
  • 2018 International Congress

    Genome-wide association study identifies common genetic variants associated with cervical dystonia

    Y. Sun, C. L, Q. Hui, J. Perlmutter, S. Ruehl, C. Klein, J. Jankovic, R. Barbano, S. Reich, J. Bremner, V. Vaccarino, A. Quyyumi, H. Jinnah (Atlanta, GA, USA)

    Objective: We aim to identify genetic variants of cervical dystonia (CD) in a large cohort of patients using a genome-wide association study (GWAS) approach. Background:…
  • 2018 International Congress

    Encephalopathy in a Japanese patient with Rapid-Onset Dystonia-Parkinsonism carrying a Novel ATP1A3 mutation

    K. Hoshino, T. Kawarai, M. Hayashi, K. Kimura, Y. Nagao, M. Fukumizu, R. Miyamoto, R. Kaji (Tokyo, Japan)

    Objective: To investigate underlying pathomechanisms of DYT/PARK-ATP1A3 in Japanese patient with rapid-onset dystonia-parkinsonism (RDP). Background: Mutations in ATP1A3 would lead to development of various neurological…
  • 2018 International Congress

    Screening study of COL6A3 in sporadic isolated dystonia

    L.Y. Ma, T. Feng (Beijing, China)

    Objective: To verify the role of COL6A3 in isolated dystonia. Background: COL6A3 has recently been suggested to cause a form of autosomal recessive isolated dystonia.…
  • 2018 International Congress

    Siblings with a PRKRA (DYT16) Mutation and Startle Myoclonus

    L. Wiblin, M. Baker, M. Lai, R. Horvath, N. Warren (Newcastle upon Tyne, United Kingdom)

    Objective: To characterize and expand the phenotype of a family from North-East England with DYT16. Background: DYT16 is an autosomal recessive disease associated with mutations…
  • 2018 International Congress

    Paroxysmal multifocal dystonia with hemiplegic migraine possibly related to novel CACNA1A mutation

    A. Hannoun, K. Smith (Worcester, MA, USA)

    Objective: To report a case of a unique clinical presentation of hemiplegic migraine associated with paroxysmal multifocal dystonia possibly related to a novel CACNA1A mutation.…
  • 2017 International Congress

    Association analysis of single nucleotide polymorphisms near the DYT3 locus to dystonic symptoms in X-linked dystonia-parkinsonism

    G. Saranza, D. Sumalapao, A. Domingo, P. Pasco, R.D. Jamora, L. Lee, A. Westenberger, C. Klein (Manila, Philippines)

    Objective: We aimed to elucidatewhether single nucleotide polymorphisms within the XDP locus affect the phenotypic expression of XDP.  Background: X-linked Dystonia-Parkinsonism (XDP, DYT3, Lubag Disease,…
  • 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

    Variations in ANO3 gene in patients with cervical dystonia

    V. Han, V. Habalova, L. Klimcakova, J. Zidzik, M. Skorvanek, Z. Gdovinova (Kosice, Slovakia)

    Objective: The aim of our study was to establish prevalence of variants in the gene for anoctamin 3 (ANO3) in a population of patients with…
  • 2017 International Congress

    Haploinsufficiency of KMT2B causes myoclonus-dystonia with impaired psychomotor ability

    T. Kawarai, R. Miyamoto, H. Mure, R. Morigaki, R. Oki, A. Orlacchio, R. Koichihara, E. Nakagawa, T. Sakamoto, Y. Izumi, S. Goto, R. Kaji (Tokushima, Japan)

    Objective: To investigate the genetic defect in patients with early-onset dystonia and myoclonus accompanying various neurological features. Background: Unlike other Mendelian disorders, dystonia genetics has…
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