Literature DB >> 24136457

Genetics in dystonia: an update.

Tania Fuchs1, Laurie J Ozelius.   

Abstract

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.

Entities:  

Mesh：

Year:  2013        PMID： 24136457      PMCID： PMC3877920          DOI： 10.1007/s11910-013-0410-z

Source DB:  PubMed          Journal:  Curr Neurol Neurosci Rep        ISSN： 1528-4042            Impact factor:   5.081


  65 in total

1.  Adenosine A(2A) receptors are colocalized with and activate g(olf) in rat striatum.

Authors:  B Kull; P Svenningsson; B B Fredholm
Journal:  Mol Pharmacol       Date:  2000-10       Impact factor: 4.436

2.  Human G(olf) gene polymorphisms and vulnerability to bipolar disorder.

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Journal:  Psychiatr Genet       Date:  1998       Impact factor: 2.458

Review 3.  Milestones in dystonia.

Authors:  Laurie J Ozelius; Naomi Lubarr; Susan B Bressman
Journal:  Mov Disord       Date:  2011-05       Impact factor: 10.338

4.  The multiple faces of the ATP1A3-related dystonic movement disorder.

Authors:  Anne Roubergue; Emmanuel Roze; Sandrine Vuillaumier-Barrot; Marie-Joséphine Fontenille; Aurélie Méneret; Marie Vidailhet; Bertrand Fontaine; Diane Doummar; Bertrand Philibert; Florence Riant; Sophie Nicole
Journal:  Mov Disord       Date:  2013-03-08       Impact factor: 10.338

Review 5.  Genetics of dystonia.

Authors:  Tania Fuchs; Laurie J Ozelius
Journal:  Semin Neurol       Date:  2012-01-21       Impact factor: 3.420

6.  Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.

Authors:  Wan-Jin Chen; Yu Lin; Zhi-Qi Xiong; Wei Wei; Wang Ni; Guo-He Tan; Shun-Ling Guo; Jin He; Ya-Fang Chen; Qi-Jie Zhang; Hong-Fu Li; Yi Lin; Shen-Xing Murong; Jianfeng Xu; Ning Wang; Zhi-Ying Wu
Journal:  Nat Genet       Date:  2011-11-20       Impact factor: 38.330

7.  The prevalence of primary dystonia in the general community.

Authors:  J Müller; S Kiechl; G K Wenning; K Seppi; J Willeit; A Gasperi; J Wissel; T Gasser; W Poewe
Journal:  Neurology       Date:  2002-09-24       Impact factor: 9.910

8.  A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.

Authors:  Cas Simons; Nicole I Wolf; Nathan McNeil; Ljubica Caldovic; Joseph M Devaney; Asako Takanohashi; Joanna Crawford; Kelin Ru; Sean M Grimmond; David Miller; Davide Tonduti; Johanna L Schmidt; Robert S Chudnow; Rudy van Coster; Lieven Lagae; Jill Kisler; Jürgen Sperner; Marjo S van der Knaap; Raphael Schiffmann; Ryan J Taft; Adeline Vanderver
Journal:  Am J Hum Genet       Date:  2013-04-11       Impact factor: 11.025

Review 9.  ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

Authors:  Allison Brashear; Jonathan W Mink; Deborah F Hill; Niki Boggs; W Vaughn McCall; Mark A Stacy; Beverly Snively; Laney S Light; Kathleen J Sweadner; Laurie J Ozelius; Leslie Morrison
Journal:  Dev Med Child Neurol       Date:  2012-08-28       Impact factor: 5.449

10.  De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

Authors:  Erin L Heinzen; Kathryn J Swoboda; Yuki Hitomi; Fiorella Gurrieri; Sophie Nicole; Boukje de Vries; F Danilo Tiziano; Bertrand Fontaine; Nicole M Walley; Sinéad Heavin; Eleni Panagiotakaki; Stefania Fiori; Emanuela Abiusi; Lorena Di Pietro; Matthew T Sweney; Tara M Newcomb; Louis Viollet; Chad Huff; Lynn B Jorde; Sandra P Reyna; Kelley J Murphy; Kevin V Shianna; Curtis E Gumbs; Latasha Little; Kenneth Silver; Louis J Ptáček; Joost Haan; Michel D Ferrari; Ann M Bye; Geoffrey K Herkes; Charlotte M Whitelaw; David Webb; Bryan J Lynch; Peter Uldall; Mary D King; Ingrid E Scheffer; Giovanni Neri; Alexis Arzimanoglou; Arn M J M van den Maagdenberg; Sanjay M Sisodiya; Mohamad A Mikati; David B Goldstein
Journal:  Nat Genet       Date:  2012-07-29       Impact factor: 38.330
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  2 in total

Review 1.  Roles of the M4 acetylcholine receptor in the basal ganglia and the treatment of movement disorders.

Authors:  Mark S Moehle; P Jeffrey Conn
Journal:  Mov Disord       Date:  2019-06-18       Impact factor: 10.338

2.  Polygenic Risk of Spasmodic Dysphonia is Associated With Vulnerable Sensorimotor Connectivity.

Authors:  Gregory Garbès Putzel; Giovanni Battistella; Anna F Rumbach; Laurie J Ozelius; Mert R Sabuncu; Kristina Simonyan
Journal:  Cereb Cortex       Date:  2018-01-01       Impact factor: 5.357
  2 in total

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