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Genetics of Paroxysmal Dyskinesia

  • Chapter
Movement Disorder Genetics

Abstract

Paroxysmal dyskinesias (PxDs) constitute a clinically and genetically heterogeneous group of rare conditions characterized by recurrent brief episodes of abnormal involuntary movements. PxDs may present with episodic choreic, ballistic, athetoid features or any mixture of dystonic symptoms. Current classification of PxDs based on different precipitating factors recognizes three subtypes including paroxysmal kinesigenic (PKD), nonkinesigenic (PNKD), and exercise-induced (PED) dyskinesia. Neurological examination between the attacks is usually normal in these subtypes. However, PxDs occur as a distinct feature of complex chronic neurological disorders, comprising Glut1 deficiency syndrome, MCT8 deficiency (Allen-Herndon-Dudley syndrome), and ATP1A3-related conditions (alternating hemiplegia of childhood; rapid-onset dystonia-parkinsonism). Alliance of meticulous phenotyping with state-of-the-art methods of molecular genetics resulted in new insights concerning the genetic causes of PxDs.

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Authors and Affiliations

  1. Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center, Georg August University Göttingen, Göttingen, 37075, Germany

    Knut Brockmann MD

  2. Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Georg August University, Göttingen, 37099, Germany

    Hendrik Rosewich MD

  3. Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Georg August University, Göttingen, Germany

    Hendrik Rosewich MD

Authors
  1. Knut Brockmann MD
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  2. Hendrik Rosewich MD
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Correspondence to Knut Brockmann MD .

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Editors and Affiliations

  1. Department of Neurology, University Hospital Kiel, Kiel, Germany

    Susanne A. Schneider

  2. Department of Molecular Neuroscience, University College London, Institute of Neurology, London, United Kingdom

    José M. Tomás Brás

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Brockmann, K., Rosewich, H. (2015). Genetics of Paroxysmal Dyskinesia. In: Schneider, S., Brás, J. (eds) Movement Disorder Genetics. Springer, Cham. https://doi.org/10.1007/978-3-319-17223-1_10

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  • DOI: https://doi.org/10.1007/978-3-319-17223-1_10

  • Publisher Name: Springer, Cham

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