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Identification of a novel THAP1 mutation at R29 amino‐acid residue in sporadic patients with early‐onset dystonia

2009; Wiley; Volume: 24; Issue: 16 Linguagem: Inglês

10.1002/mds.22849

1531-8257

Coro Paisàn‐Ruìz, Javier Ruiz‐Martínez, M. Ruibal, Kin Y. Mok, Begoña Indakoetxea, Ana Gorostidi, J.F. Martí-Massó,

Parkinson's Disease Mechanisms and Treatments

Movement DisordersVolume 24, Issue 16 p. 2428-2429 Letter to the Editor Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia† Coro Paisán-Ruiz PhD, Corresponding Author Coro Paisán-Ruiz PhD [email protected] Laboratory of Neurogenomics, Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, Queen Square, London, EnglandLaboratory of Neurogenomics, Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, Queen Square, London, EnglandSearch for more papers by this authorJavier Ruiz-Martinez MD, Javier Ruiz-Martinez MD Servicio de Neurología, Hospital Donostia-San Sebastián, Gipuzkoa, Spain, CIBERNED, SpainSearch for more papers by this authorMarta Ruibal MD, Marta Ruibal MD Servicio de Neurología, Hospital de Zumarraga, Gipuzkoa, SpainSearch for more papers by this authorKin Y. Mok MB, Kin Y. Mok MB Laboratory of Neurogenomics, Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, Queen Square, London, EnglandSearch for more papers by this authorBegona Indakoetxea MD, PhD, Begona Indakoetxea MD, PhD Servicio de Neurología, Hospital Donostia. San Sebastián, Gipuzkoa, SpainSearch for more papers by this authorAna Gorostidi PhD, Ana Gorostidi PhD Laboratorio de Neurogenetics, Hospital Donostia-San Sebastián, Gipuzkoa, SpainSearch for more papers by this authorJosé F. Martí Massó MD, PhD, José F. Martí Massó MD, PhD Servicio de Neurología, Hospital Donostia-San Sebastián, Gipuzkoa, SpainSearch for more papers by this author Coro Paisán-Ruiz PhD, Corresponding Author Coro Paisán-Ruiz PhD [email protected] Laboratory of Neurogenomics, Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, Queen Square, London, EnglandLaboratory of Neurogenomics, Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, Queen Square, London, EnglandSearch for more papers by this authorJavier Ruiz-Martinez MD, Javier Ruiz-Martinez MD Servicio de Neurología, Hospital Donostia-San Sebastián, Gipuzkoa, Spain, CIBERNED, SpainSearch for more papers by this authorMarta Ruibal MD, Marta Ruibal MD Servicio de Neurología, Hospital de Zumarraga, Gipuzkoa, SpainSearch for more papers by this authorKin Y. Mok MB, Kin Y. Mok MB Laboratory of Neurogenomics, Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, Queen Square, London, EnglandSearch for more papers by this authorBegona Indakoetxea MD, PhD, Begona Indakoetxea MD, PhD Servicio de Neurología, Hospital Donostia. San Sebastián, Gipuzkoa, SpainSearch for more papers by this authorAna Gorostidi PhD, Ana Gorostidi PhD Laboratorio de Neurogenetics, Hospital Donostia-San Sebastián, Gipuzkoa, SpainSearch for more papers by this authorJosé F. Martí Massó MD, PhD, José F. Martí Massó MD, PhD Servicio de Neurología, Hospital Donostia-San Sebastián, Gipuzkoa, SpainSearch for more papers by this author First published: 18 December 2009 https://doi.org/10.1002/mds.22849Citations: 27 † Potential conflict of interest: Nothing to report. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Tolosa E,Compta Y. Dystonia in Parkinson's disease. J Neurol 2006; 253( Suppl 7): VII7–VII13. 2 Ozelius LJ. Update on the genetics of primary torsion dystonia loci DYT6, DYT7, and DYT13 and the dystonia-plus locus DYT12. Adv Neurol 2004; 94: 109–112. 3 Bressman SB,Raymond D,Fuchs T,Heiman GA,Ozelius LJ,Saunders-Pullman R. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol 2009; 8: 441–446. 4 Djarmati A,Schneider SA,Lohmann K, et al. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol 2009; 8: 447–452. 5 Fuchs T,Gavarini S,Saunders-Pullman R, et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 2009; 41: 286–288. Citing Literature Volume24, Issue1615 December 2009Pages 2428-2429 ReferencesRelatedInformation