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

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Articles tagged "Dystonia: Genetics"

  • 2023 International Congress

    Case of neuroferritinopathy with isolated dystonic leg cramps and normal neuroimaging

    F. Mustafa, K. Sai Krishna, A. Das, A. Garg, A K. Srivastava (NEW DELHI, India)

    Objective: To describe a case of genetically proven neuroferritinopathy with isolated dystonic leg cramps and normal neuro-imaging. Background: Neuroferritinopathy(NF) is an autosomal dominant condition characterized…
  • 2023 International Congress

    Metoclopramide-induced acute dystonic reaction caused by CYP2D6 *4/*4 and CYP2D6 *10/*10 genotypes

    I. šarac, H. šarac, F. Borovečki, N. Božina, I. Ivek, L. Bagarić Krakan, Z. Krešić (Zagreb, Croatia)

    Objective: Objective is to demonstrated the role of CYP P450 2D6 polymorphisms in metoclopramide-induced acute dystonic reactions. Background: Metoclopramide can induce acute extrapyramidal reactions by…
  • 2023 International Congress

    Mosaic divergent repeat interruptions in X-linked dystonia-parkinsonism: stability over generations and time

    J. Laß, T. Lüth, K. Schlüter, RL. Rosales, RD. Jamora, G. Saranza, CCE. Diesta, S. Schaake, B. Laabs, N. Brüggemann, I. König, C. Klein, A. Westenberger, J. Trinh (Lübeck, Germany)

    Objective: This study aims to investigate the stability of Mosaic Divergent Repeat Interruptions affecting motif Length and Sequence (mDRILS) frequencies and repeat length across generations…
  • 2023 International Congress

    Dystonia as presenting feature of Witteveen-kolk Syndrome

    F. Mustafa, K. Sai Krishna, D. Vibha, R K. Singh, M. Tripati, A. Elavarsi, S. Gaikwad, B. Mishra (NEW DELHI, India)

    Objective: To describe the clinical heterogeneity and expand the phenotypic spectrum of Witteveen- Kolk syndrome Background: Witteveen-Kolk syndrome (WITKOS) is a neurodevelopmental condition, first described…
  • 2023 International Congress

    Case report of atypical PKAN expressed in late sixth-decade

    S. Park (Daejeon, Republic of Korea)

    Objective: We report a case of atypical PKAN expressed in late adulthood with a typical radiologic finding and genetic confirmation. Background: Pantothenate-kinase-associated neurodegeneration (PKAN) is…
  • 2023 International Congress

    DYT1 gene mutation: an atypical presentation with myoclonic dystonia

    G. Belluscio, F. Valentino, G. Cosentino, S. Gana, R. Zangaglia, C. Pacchetti (Pavia, Italy)

    Objective: In the present work, we describe the case of a 54 years old man who presented a young-age onset (7-8 years old) of unilateral…
  • 2023 International Congress

    Striatal neurodegeneration in female carriers of the TAF1 Mutation Causing X-linked Dystonia-Parkinsonism

    H. Hanssen, J. Dy, J. Tantianpact, M. Heldmann, H. Manalo, C. Klein, A. Westenberger, J. Oropilla, C. Diesta, N. Brüggemann (Lübeck, Germany)

    Objective: To determine whether structural brain changes are present in female carriers (MC) of the TAF1 pathogenic change causing X-linked dystonia-parkinsonism (XDP). Background: XDP is an X-linked…
  • 2023 International Congress

    Exome-wide and Mitogenome Sequencing of Indian Dystonia Patients

    I. Singh, A. Saini, R. Rajan, A. Srivastava (DELHI, India)

    Objective: To identify whole exome and mitochondrial genome mutation spectrum of dystonia in India and to establish clinical significance of mutations by phenotype-genotype correlation. Background:…
  • 2023 International Congress

    Paroxysmal Kinesigenic Dyskinesia caused by a novel missense variant in NBEA

    M. Hull, J. Fatih, H. Du, D. Pehlivan, J. Posey, J. Lupski, D. Calame (Houston, USA)

    Objective: We describe a patient who presented to our movement disorder center for unilateral dystonic spells which last seconds and triggered by sudden movements. Genetic…
  • 2023 International Congress

    Childhood-onset writer’s cramp evolving to generalised dystonia –a new mutation in KMT2B gene

    M. Sequeira, M. Soares, J. Rosa (Lisboa, Portugal)

    Objective: To present a case of childhood-onset dystonia with a new mutation in KMT2B gene. Background: KMT2B-related dystonia (DYT-KMT2B) is an increasingly recognized cause of…
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