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Paroxysmal dyskinesias.

Kailash P Bhatia¹

¹Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London, United Kingdom. k.bhatia@ion.ucl.ac.uk

Movement Disorders : Official Journal of the Movement Disorder Society

|June 1, 2011

Summary

This summary is machine-generated.

Paroxysmal movement disorders are rare episodic dyskinesia. Advances in genetics reveal links to specific genes, improving diagnosis and treatment for conditions like paroxysmal kinesigenic (PKD) and exercise-induced (PED) disorders.

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Area of Science:

Neurology
Genetics
Molecular Biology

Background:

Paroxysmal movement disorders are a rare, heterogeneous group of episodic dyskinesia.
Key forms include paroxysmal kinesigenic (PKD), nonkinesigenic (PNKD), and exercise-induced (PED) disorders.

Observation:

Significant progress has been made in understanding the pathophysiology and genetics of these disorders.
Genotype-phenotype correlations are refining clinical definitions for familial idiopathic forms.

Findings:

PKD shows genetic heterogeneity with linkage to chromosome 16 in some families.
PNKD is linked to mutations in the MR-1 gene.
PED is also genetically heterogeneous; GLUT-1 gene mutations are implicated in some familial and sporadic cases, with potential response to ketogenic diets. Episodic ataxias (EA1, EA2) and benign torticollis of infancy are associated with potassium and calcium channel mutations.

Implications:

Genetic insights are crucial for accurate diagnosis and classification of paroxysmal movement disorders.
Identifying specific gene mutations allows for targeted therapies, such as dietary interventions for GLUT-1 related PED.
Understanding channelopathies provides a basis for novel therapeutic strategies for episodic ataxias and related conditions.