Title: Novel <i>GNAL</i> mutations in two German patients with sporadic dystonia
Abstract: Movement DisordersVolume 29, Issue 14 p. 1833-1834 Letters: New Observations Novel GNAL mutations in two German patients with sporadic dystonia Julia Ziegan, Julia Ziegan Department of Neurology, University of Rostock, Germany Institute of Neurogenetics, University of Lübeck, GermanySearch for more papers by this authorMatthias Wittstock MD, Matthias Wittstock MD Department of Neurology, University of Rostock, GermanySearch for more papers by this authorAna Westenberger PhD, Ana Westenberger PhD Institute of Neurogenetics, University of Lübeck, GermanySearch for more papers by this authorValerija Dobričić PhD, Valerija Dobričić PhD Institute of Neurogenetics, University of Lübeck, Germany Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, SerbiaSearch for more papers by this authorAlexander Wolters MD, Alexander Wolters MD Department of Neurology, University of Rostock, GermanySearch for more papers by this authorReiner Benecke MD, Reiner Benecke MD Department of Neurology, University of Rostock, GermanySearch for more papers by this authorChristine Klein MD, Christine Klein MD Institute of Neurogenetics, University of Lübeck, GermanySearch for more papers by this authorChristoph Kamm MD, Corresponding Author Christoph Kamm MD Department of Neurology, University of Rostock, GermanyCorrespondence to: PD Dr. Christoph Kamm, Department of Neurology, University of Rostock, Gehlsheimer Str. 20, 18147 Rostock, Germany, E-mail: [email protected]Search for more papers by this author Julia Ziegan, Julia Ziegan Department of Neurology, University of Rostock, Germany Institute of Neurogenetics, University of Lübeck, GermanySearch for more papers by this authorMatthias Wittstock MD, Matthias Wittstock MD Department of Neurology, University of Rostock, GermanySearch for more papers by this authorAna Westenberger PhD, Ana Westenberger PhD Institute of Neurogenetics, University of Lübeck, GermanySearch for more papers by this authorValerija Dobričić PhD, Valerija Dobričić PhD Institute of Neurogenetics, University of Lübeck, Germany Institute of Neurology CCS, School of Medicine, University of Belgrade, Belgrade, SerbiaSearch for more papers by this authorAlexander Wolters MD, Alexander Wolters MD Department of Neurology, University of Rostock, GermanySearch for more papers by this authorReiner Benecke MD, Reiner Benecke MD Department of Neurology, University of Rostock, GermanySearch for more papers by this authorChristine Klein MD, Christine Klein MD Institute of Neurogenetics, University of Lübeck, GermanySearch for more papers by this authorChristoph Kamm MD, Corresponding Author Christoph Kamm MD Department of Neurology, University of Rostock, GermanyCorrespondence to: PD Dr. Christoph Kamm, Department of Neurology, University of Rostock, Gehlsheimer Str. 20, 18147 Rostock, Germany, E-mail: [email protected]Search for more papers by this author First published: 07 November 2014 https://doi.org/10.1002/mds.26066Citations: 15 Funding agencies: This study was supported by research grants from the University of Rostock and by a research grant from the Fritz-Thyssen-Foundation (AWe). Christine Klein is the recipient of a career development award from the Hermann and Lilly Schilling Foundation. Relevant conflicts of interest/financial disclosures: Nothing to report. Full financial disclosures and author roles may be found in the online version of this article. 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 No abstract is available for this article. Supporting Information Additional Supporting Information may be found in the online version of this article at the publisher's web-site. Filename Description mds26066-sup-0001-suppvideo1.ASF23.7 MB Segment 1. Baseline video assessment of patient 1. Segmental dystonia including cervical dystonia with predominant laterocollis to the left and severe truncal dystonia exacerbated by walking. mds26066-sup-0002-suppvideo2.asf3.9 MB Segment 2. Follow-up of patient 1 five years after DBS surgery. Marked improvement, especially of truncal dystonia. mds26066-sup-0003-suppfig1.tif4.1 MB Supplementary Figure 1 mds26066-sup-0004-supptbl1.docx17.7 KB Supplementary table 1: Clinical characteristics of patients mds26066-sup-0005-supptbl2.docx11.8 KB Supplementary table 2: Primer sequences used for PCR amplification and sequencing mds26066-sup-0006-suppmat.docx32 KB Supplementary Material Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article. References 1 Fuchs T, Saunders-Pullman R, Masuho I, et al. Mutations in GNAL cause primary torsion dystonia. Nat Genet 2013; 45: 88-92. 2 Dufke C, Sturm M, Schroeder C, et al. Screening of mutations in GNAL in sporadic dystonia patients. Mov Disord 2014; 29: 1193-1196. 3 Miao J, Wan XH, Sun Y, Feng JC, Cheng FB. Mutation screening of GNAL gene in patients with primary dystonia from Northeast China. Parkinsonism Relat Disord 2013; 19: 910-912. 4 Zech M, Gross N, Jochim A, et al. Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls. Mov Disord 2014; 29: 143-147. 5 Saunders-Pullman R, Fuchs T, San Luciano M, et al. Heterogeneity in primary dystonia: Lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites. Mov Disord 2014; 29: 812-818. 6 Kumar KR, Lohmann K, Masuho I, et al. Mutations in GNAL: a novel cause of craniocervical dystonia. JAMA Neurol 2014; 71: 490-494. 7 Lohmann K, Uflacker N, Erogullari A, et al. Identification and functional analysis of novel THAP1 mutations. Eur J Hum Genet 2012; 20: 171-175. Citing Literature Volume29, Issue14December 2014Pages 1833-1834 ReferencesRelatedInformation
Publication Year: 2014
Publication Date: 2014-11-07
Language: en
Type: letter
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 17
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