Abstract
Paroxysmal movement disorders include paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, paroxysmal exercise-induced dyskinesia, and episodic ataxias. In recent years, there has been renewed interest and recognition of these disorders and their intersection with epilepsy, at the molecular and pathophysiological levels. In this review, we discuss how these distinct phenotypes were constructed from a historical perspective and discuss how they are currently coalescing into established genetic etiologies with extensive pleiotropy, emphasizing clinical phenotyping important for diagnosis and for interpreting results from genetic testing. We discuss insights on the pathophysiology of select disorders and describe shared mechanisms that overlap treatment principles in some of these disorders. In the near future, it is likely that a growing number of genes will be described associating movement disorders and epilepsy, in parallel with improved understanding of disease mechanisms leading to more effective treatments.
Highlights
The concept of neurological diseases with episodic manifestations is not foreign to clinical practice
Notwithstanding nebulous pathophysiology, transient motoric phenomena attributed to abnormal basal ganglia and/or cerebellar activity are labeled paroxysmal movement disorders
The first description of paroxysmal dyskinesia is attributed to Kure, who made use of photography in the nineteenth century to document what was likely paroxysmal kinesigenic dyskinesia (PKD) [2, 3]
Summary
Claudio M. de Gusmão 1,2*, Lucas Garcia 3, Mohamad A. Reviewed by: Giacomo Garone, Bambino Gesù Children Hospital (IRCCS), Italy Agathe Roubertie, Institut National de la Santé et de la Recherche Médicale (INSERM), France. We discuss how these distinct phenotypes were constructed from a historical perspective and discuss how they are currently coalescing into established genetic etiologies with extensive pleiotropy, emphasizing clinical phenotyping important for diagnosis and for interpreting results from genetic testing. We discuss insights on the pathophysiology of select disorders and describe shared mechanisms that overlap treatment principles in some of these disorders. It is likely that a growing number of genes will be described associating movement disorders and epilepsy, in parallel with improved understanding of disease mechanisms leading to more effective treatments
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