title: Paroxysmal dyskinesias.
abstract: Paroxysmal movement disorders are a relatively rare and heterogenous group of conditions manifesting as episodic dyskinesia lasting a brief duration. Three forms are clearly recognized, namely, paroxysmal kinesigenic (PKD), nonkinisegenic (PNKD), and exercise induced (PED). There have been major advances in the understanding of the pathophysiological mechanisms and the genetics of these disorders, leading to better clinical definitions based on genotype-phenotype correlations in the familial idiopathic forms. PKD is genetically heterogenous, but there is linkage to chromosome 16 in a number of families. PNKD is due to mutations of the MR-1 gene. PED is genetically heterogenous, but a number of familial and sporadic cases may be due to GLUT-1 gene mutations. The GLUT1 gene-related form of PED may respond to a ketogenic diet. Potassium and calcium channel mutations underlie the 2 main forms of episodic ataxia (EA1 and EA2), whereas benign torticollis of infancy may also be a calcium channel disorder.
authors.affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London, United Kingdom. k.bhatia@ion.ucl.ac.uk
authors.forename: Kailash P
authors.initials: KP
authors.lastname: Bhatia
mesh_terms: D002819:Chorea / Q000235:genetics / Q000266:history / Q000503:physiopathology / Q000628:therapy; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans