Literature DB >> 19202559

The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm.

Giovanni Defazio1, Mar Matarin, Elizabeth L Peckham, Davide Martino, Enza M Valente, Andrew Singleton, Anthony Crawley, Maria Stella Aniello, Francesco Brancati, Giovanni Abbruzzese, Paolo Girlanda, Paolo Livrea, Mark Hallett, Alfredo Berardelli.   

Abstract

We studied the influence of the rs1182 polymorphism of the TOR1A gene on the risk of dystonia spread in two representative cohorts of patients presenting with primary blepharospasm (BSP), one from Italy and the other from the United States of America. The relationship between rs1182 polymorphism and spread was estimated by Kaplan-Meier survival curves and Cox proportional hazard regression models adjusted by age and sex, age of BSP onset. In both series, patients carrying the T allele (G/T or T/T) in the rs1182 polymorphism were more likely to have dystonia spread as compared with the homozygous carriers of the common G allele. The comparable findings obtained in two independent cohorts support a genetic contribution to BSP spread.

Entities:  

Mesh：

Substances：

Year:  2009        PMID： 19202559      PMCID： PMC4167593          DOI： 10.1002/mds.22471

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


  13 in total

1.  Diagnostic criteria for dystonia in DYT1 families.

Authors:  S B Bressman; D Raymond; K Wendt; R Saunders-Pullman; D De Leon; S Fahn; L Ozelius; N Risch
Journal:  Neurology       Date:  2002-12-10       Impact factor: 9.910

Review 2.  Epidemiology of primary dystonia.

Authors:  Giovanni Defazio; Giovanni Abbruzzese; Paolo Livrea; Alfredo Berardelli
Journal:  Lancet Neurol       Date:  2004-11       Impact factor: 44.182

3.  Lack of association with TorsinA haplotype in German patients with sporadic dystonia.

Authors:  S Hague; S Klaffke; J Clarimon; B Hemmer; A Singleton; A Kupsch; O Bandmann
Journal:  Neurology       Date:  2006-03-28       Impact factor: 9.910

4.  The measurement of observer agreement for categorical data.

Authors:  J R Landis; G G Koch
Journal:  Biometrics       Date:  1977-03       Impact factor: 2.571

5.  Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.

Authors:  Jordi Clarimon; Francesco Brancati; Elizabeth Peckham; Enza Maria Valente; Bruno Dallapiccola; Giovanni Abruzzese; Paolo Girlanda; Giovanni Defazio; Alfredo Berardelli; Mark Hallett; Andrew B Singleton
Journal:  Mov Disord       Date:  2007-01-15       Impact factor: 10.338

6.  Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia.

Authors:  C Kamm; F Asmus; J Mueller; P Mayer; M Sharma; U J Muller; S Beckert; R Ehling; T Illig; H E Wichmann; W Poewe; J C Mueller; T Gasser
Journal:  Neurology       Date:  2006-11-28       Impact factor: 9.910

7.  Torsin A haplotype predisposes to idiopathic dystonia.

Authors:  Jordi Clarimon; Hilmir Asgeirsson; Andrew Singleton; Finnbogi Jakobsson; Haukur Hjaltason; John Hardy; Sigurlaug Sveinbjornsdottir
Journal:  Ann Neurol       Date:  2005-05       Impact factor: 10.422

8.  Risk factors for spread of primary adult onset blepharospasm: a multicentre investigation of the Italian movement disorders study group.

Authors:  G Defazio; A Berardelli; G Abbruzzese; V Coviello; F Carella; M T De Berardinis; G Galardi; P Girlanda; S Maurri; M Mucchiut; A Albanese; M Basciani; L Bertolasi; R Liguori; N Tambasco; L Santoro; G Assennato; P Livrea
Journal:  J Neurol Neurosurg Psychiatry       Date:  1999-11       Impact factor: 10.154

9.  The course of cervical dystonia and patient satisfaction with long-term botulinum toxin A treatment.

Authors:  I M Skogseid; E Kerty
Journal:  Eur J Neurol       Date:  2005-03       Impact factor: 6.089

10.  Long-term assessment of the risk of spread in primary late-onset focal dystonia.

Authors:  G Abbruzzese; A Berardelli; P Girlanda; R Marchese; D Martino; F Morgante; L Avanzino; C Colosimo; G Defazio
Journal:  J Neurol Neurosurg Psychiatry       Date:  2007-07-17       Impact factor: 10.154
View more
  19 in total

1.  BDNF rs6265 (Val66Met) Polymorphism as a Risk Factor for Blepharospasm.

Authors:  Vasileios Siokas; Dimitrios Kardaras; Athina-Maria Aloizou; Ioannis Asproudis; Konstadinos G Boboridis; Eleni Papageorgiou; Georgios M Hadjigeorgiou; Evangelia E Tsironi; Efthimios Dardiotis
Journal:  Neuromolecular Med       Date:  2018-12-05       Impact factor: 3.843

Review 2.  Genetic and clinical features of primary torsion dystonia.

Authors:  Laurie J Ozelius; Susan B Bressman
Journal:  Neurobiol Dis       Date:  2010-12-17       Impact factor: 5.996

Review 3.  Blepharospasm 40 years later.

Authors:  Giovanni Defazio; Mark Hallett; Hyder A Jinnah; Antonella Conte; Alfredo Berardelli
Journal:  Mov Disord       Date:  2017-02-10       Impact factor: 10.338

4.  Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India.

Authors:  Subhajit Giri; Arunibha Ghosh; Shubhrajit Roy; Charulata Savant Sankhla; Shyamal Kumar Das; Kunal Ray; Jharna Ray
Journal:  J Mol Neurosci       Date:  2020-07-13       Impact factor: 3.444

5.  The Italian Dystonia Registry: rationale, design and preliminary findings.

Authors:  Giovanni Defazio; M Esposito; G Abbruzzese; C L Scaglione; G Fabbrini; G Ferrazzano; S Peluso; R Pellicciari; A F Gigante; G Cossu; R Arca; L Avanzino; F Bono; M R Mazza; L Bertolasi; R Bacchin; R Eleopra; C Lettieri; F Morgante; M C Altavista; L Polidori; R Liguori; S Misceo; G Squintani; M Tinazzi; R Ceravolo; E Unti; L Magistrelli; M Coletti Moja; N Modugno; M Petracca; N Tambasco; M S Cotelli; M Aguggia; A Pisani; M Romano; M Zibetti; A R Bentivoglio; A Albanese; P Girlanda; A Berardelli
Journal:  Neurol Sci       Date:  2017-02-18       Impact factor: 3.307

Review 6.  Genetics of primary torsion dystonia.

Authors:  Norbert Brüggemann; Christine Klein
Journal:  Curr Neurol Neurosci Rep       Date:  2010-05       Impact factor: 5.081

7.  Lack of Association of the rs11655081 ARSG Gene with Blepharospasm.

Authors:  Vasileios Siokas; Dimitrios Kardaras; Athina-Maria Aloizou; Ioannis Asproudis; Konstadinos G Boboridis; Eleni Papageorgiou; Demetrios A Spandidos; Aristidis Tsatsakis; Evangelia E Tsironi; Efthimios Dardiotis
Journal:  J Mol Neurosci       Date:  2019-01-18       Impact factor: 3.444

8.  Blepharospasm: A genetic screening study in 132 patients.

Authors:  Monia Hammer; Alexandra Abravanel; Elizabeth Peckham; Ava Mahloogi; Elisa Majounie; Mark Hallett; Andrew Singleton
Journal:  Parkinsonism Relat Disord       Date:  2019-04-02       Impact factor: 4.891

9.  Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.

Authors:  Nutan Sharma; Ramon A Franco; John K Kuster; Adele A Mitchell; Tania Fuchs; Rachel Saunders-Pullman; Deborah Raymond; Mitchell F Brin; Andrew Blitzer; Susan B Bressman; Laurie J Ozelius
Journal:  Mov Disord       Date:  2010-10-15       Impact factor: 10.338

10.  Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.

Authors:  Nicole Calakos; Viren D Patel; Melissa Gottron; Gaofeng Wang; Khan-Nhat Tran-Viet; Danielle Brewington; John L Beyer; David C Steffens; Ranga R Krishnan; Stephan Züchner
Journal:  J Med Genet       Date:  2009-12-02       Impact factor: 6.318
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.