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Pathophysiology of Paroxysmal Dyskinesia

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Paroxysmal Movement Disorders

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Abstract

Paroxysmal dyskinesias are a group of hyperkinetic movement disorders characterized by episodes of dystonia, chorea, athetosis, and ballism that appear isolated or in combination without loss of consciousness. We can differentiate various forms of paroxysmal dyskinesia based on genotypic and phenotypic features: Paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, and paroxysmal exercise-induced dyskinesia. However, all disorders display common traits, such as the paroxysmal nature and the presence of triggering factors. The episodic nature of these diseases suggests that they result from neuronal network instability and from a general state of hyperexcitability. This augmented excitability is also responsible for the epileptic phenotype that is often associated with paroxysmal dyskinesia.

In this chapter, we summarize the current knowledge on the main genetic factors responsible for paroxysmal dyskinesia and the underlying physiopathological mechanisms that converge into the final common pathway of neuronal network hyperexcitability.

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Abbreviations

GLUT1:

Glucose transporter type 1

HAGH:

Hydroxyacylglutathione hydrolase

KCNMA1:

Ca2+-activated K+ channel subunit α

KO:

Knockout

NT:

Neurotransmitter

PED:

Paroxysmal exercise-induced dyskinesia

PKD:

Paroxysmal kinesigenic dyskinesia

PNKD:

Paroxysmal non-kinesigenic dyskinesia gene

PNKD:

Paroxysmal non-kinesigenic dyskinesia

PRRT2:

Proline-rich transmembrane protein 2

PxD:

Paroxysmal dyskinesia

SCN8A:

Voltage-gated Na+ channel type 8

SLC2A1:

Solute carrier family 2 member 1 gene

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Author information

Authors and Affiliations

  1. Department of Experimental Medicine, University of Genoa, Center for Synaptic Neuroscience and Technology, Italian Institute of Technology, Genova, Italy

    Anna Margherita Corradi

  2. Department of Experimental Medicine, University of Genova, IRCCS Ospedale Policlinico San Martino, Genova, Italy

    Pierluigi Valente

  3. Center for Synaptic Neuroscience and Technology, Italian Institute of Technology, IRCCS Ospedale Policlinico San Martino, Genova, Italy

    Caterina Michetti

  4. Center for Synaptic Neuroscience and Technology, Italian Institute of Technology, Department of Experimental Medicine, University of Genoa, IRCCS Ospedale Policlinico San Martino, Genova, Italy

    Fabio Benfenati

Authors
  1. Anna Margherita Corradi
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  2. Pierluigi Valente
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  3. Caterina Michetti
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  4. Fabio Benfenati
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Correspondence to Fabio Benfenati .

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Editors and Affiliations

  1. Georgia Regents University, Augusta, GA, USA

    Kapil D. Sethi

  2. Department of Medicine, Surgery and Dentistry “Scuola Medica Salernitana”, University of Salerno, Baronissi, Salerno, Italy

    Roberto Erro

  3. Department of Clinical and Movement Neurosciences, UCL, Queen Square Institute of Neurology, London, UK

    Kailash P. Bhatia

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Corradi, A.M., Valente, P., Michetti, C., Benfenati, F. (2021). Pathophysiology of Paroxysmal Dyskinesia. In: Sethi, K.D., Erro, R., Bhatia, K.P. (eds) Paroxysmal Movement Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-53721-0_7

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  • DOI: https://doi.org/10.1007/978-3-030-53721-0_7

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