Literature DB >> 15465399

DYT1 mutation in Korean primary dystonia patients.

Joo-Hyuk Im1, Tae-Beom Ahn, Ki Beom Kim, Sang-Bae Ko, Beom S Jeon.   

Abstract

One hundred sixty-two patients with Korean primary dystonia patients were screened for DYT1 mutation. Five patients were positive for DYT1 mutation. Generalized dystonia patients have higher rate of DYT1 mutation (3/7). Their onset age is young (7-20; mean 13.4). Two patients were found to have segmental dystonia. Like Japanese patients with DYT1 mutation, axial muscle involvement is notable.

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Year:  2004        PMID： 15465399     DOI： 10.1016/j.parkreldis.2004.05.004

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


  5 in total

Review 1.  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

2.  Phenotypic differences in Dyt1 between ethnic groups.

Authors:  Woong-Woo Lee; Tae-Beom Ahn; Sun Ju Chung; Beom Seok Jeon
Journal:  Curr Neurol Neurosci Rep       Date:  2012-08       Impact factor: 5.081

3.  Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

Authors:  M Y Frédéric; F Clot; L Cif; A Blanchard; A Dürr; I Vuillaume; G Lesca; A Kreisler; C Davin; T Besnard; F Rousset; D Thorel; C Saquet; D Mechin; L Ozelius; Y Agid; B Barroso; B Chabrol; V Chan; M Clanet; C Coubes; A Destee; K Nguyen; C Vial; M Vidailhet; J Xie; B Sablonniere; A Calender; A Brice; A Roubertie; P Coubes; M Claustres; S Tuffery-Giraud; G Collod-Beroud
Journal:  Neurogenetics       Date:  2008-03-06       Impact factor: 2.660

4.  The Frequency of DYT1 (GAG Deletion) Mutation in Primary Dystonia Patients from Iran.

Authors:  Mohammad Hamid; Mohammad Taghi Akbari; Gholam Ali Shahidi; Zahra Zand
Journal:  Cell J       Date:  2011-04-21       Impact factor: 2.479

5.  High-throughput mutational analysis of TOR1A in primary dystonia.

Authors:  Jianfeng Xiao; Robert W Bastian; Joel S Perlmutter; Brad A Racette; Samer D Tabbal; Morvarid Karimi; Randal C Paniello; Andrew Blitzer; Sat Dev Batish; Zbigniew K Wszolek; Ryan J Uitti; Peter Hedera; David K Simon; Daniel Tarsy; Daniel D Truong; Karen P Frei; Ronald F Pfeiffer; Suzhen Gong; Yu Zhao; Mark S LeDoux
Journal:  BMC Med Genet       Date:  2009-03-11       Impact factor: 2.103
  5 in total

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