Jonathan W Mink1. 1. Department of Neurology, University of Rochester, Rochester, New York 14642, USA. jonathan_mink@urmc.rochester.edu
Abstract
PURPOSE OF REVIEW: Substantial progress has been made recently in understanding characteristic features of the paroxysmal dyskinesias and underlying genetic causes. This review summarizes the most important findings and discusses their implications. RECENT FINDINGS: The classification of paroxysmal dyskinesias has been confusing until recently when descriptive schemes were advocated over historical terminology. The descriptive classification scheme has aided phenotypic characterization in genetic studies. Recent genetic studies have revealed causes for some of the more important forms of paroxysmal dyskinesias. In particular, the major form of paroxysmal nonkinesigenic dyskinesia has been shown not to be a channelopathy. Furthermore, substantial phenotypic homogeneity has been demonstrated with each type of paroxysmal dyskinesia. SUMMARY: The recent phenotype characterization and genetic studies have provided important information that simplified the diagnosis and treatment of the paroxysmal dyskinesias. These advances enhance our understanding of mechanisms underlying paroxysmal nonepileptic as well as some epileptic disorders.
PURPOSE OF REVIEW: Substantial progress has been made recently in understanding characteristic features of the paroxysmal dyskinesias and underlying genetic causes. This review summarizes the most important findings and discusses their implications. RECENT FINDINGS: The classification of paroxysmal dyskinesias has been confusing until recently when descriptive schemes were advocated over historical terminology. The descriptive classification scheme has aided phenotypic characterization in genetic studies. Recent genetic studies have revealed causes for some of the more important forms of paroxysmal dyskinesias. In particular, the major form of paroxysmal nonkinesigenic dyskinesia has been shown not to be a channelopathy. Furthermore, substantial phenotypic homogeneity has been demonstrated with each type of paroxysmal dyskinesia. SUMMARY: The recent phenotype characterization and genetic studies have provided important information that simplified the diagnosis and treatment of the paroxysmal dyskinesias. These advances enhance our understanding of mechanisms underlying paroxysmal nonepileptic as well as some epileptic disorders.
Authors: Alexander J A Groffen; Thom Klapwijk; Anne-Fleur van Rootselaar; Justus L Groen; Marina A J Tijssen Journal: J Neurol Date: 2012-06-30 Impact factor: 4.849