Genetics in Dystonia: An Update

The past year has been extremely successful with regard to the genetics of dystonia, with the identification of four new dystonia genes ( CIZ1 , ANO3 , GNAL , and TUBB4A ). This progress was primarily achieved because of the application of a new technology, next-generation DNA sequencing, which allo...

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Veröffentlicht in:	Current neurology and neuroscience reports 2013-12, Vol.13 (12), p.410-410, Article 410
Hauptverfasser:	Fuchs, Tania, Ozelius, Laurie J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Dystonia Dystonia - genetics Dystonia - physiopathology Exome - genetics Genes Genetic Predisposition to Disease Genetics Genomes Humans Medicine Medicine & Public Health Movement disorders Movement Disorders (SA Factor Mutation Neurology Neurosciences Phenotype Proteins Section Editor Topical Collection on Movement Disorders
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Beschreibung
Zusammenfassung:	The past year has been extremely successful with regard to the genetics of dystonia, with the identification of four new dystonia genes ( CIZ1 , ANO3 , GNAL , and TUBB4A ). This progress was primarily achieved because of the application of a new technology, next-generation DNA sequencing, which allows rapid and comprehensive assessment of a patient’s genome. In addition, a combination of next-generation and traditional Sanger sequencing has expanded the phenotypic spectrum associated with some of the dystonia plus ( ATP1A3 ) and paroxysmal ( PRRT2 ) loci. This article reviews the newly identified genes and phenotypes and discusses the future applications of next-generation sequencing to dystonia research.
ISSN:	1528-4042 1534-6293
DOI:	10.1007/s11910-013-0410-z