Pure Parkinsonism As Possible Phenotype Expansion of THAP1‐Related Disorders

Movement disorders official journal of the Movement Disorder Society(2024)

引用 0|浏览17
摘要
Movement DisordersEarly View LETTER: NEW OBSERVATIONS Pure Parkinsonism as Possible Phenotype Expansion of THAP1-Related Disorders Enrico Ambrosini MD, Enrico Ambrosini MD orcid.org/0000-0002-7520-3721 Medical Genetics Unit, University Hospital of Parma, Parma, ItalySearch for more papers by this authorRita Cancilla MD, Rita Cancilla MD Neurology, Department of Medicine and Surgery, University of Parma, Parma, ItalySearch for more papers by this authorJefri Jeya Paul PhD, Jefri Jeya Paul PhD Centogene GmbH, Rostock, GermanySearch for more papers by this authorPeter Bauer MD, Peter Bauer MD Centogene GmbH, Rostock, GermanySearch for more papers by this authorBarbara Garavaglia PhD, Barbara Garavaglia PhD Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico “C. Besta”, Milan, ItalySearch for more papers by this authorValeria Barili PhD, Valeria Barili PhD Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, ItalySearch for more papers by this authorAntonio Percesepe MD, PhD, Corresponding Author Antonio Percesepe MD, PhD [email protected] Medical Genetics Unit, University Hospital of Parma, Parma, Italy Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy Correspondence to: Dr. A. Percesepe, Department of Medicine and Surgery, University of Parma, Via Antonio Gramsci, 14–43126 Parma, Italy; E-mail: [email protected]Search for more papers by this authorAnna Negrotti MD, PhD, Anna Negrotti MD, PhD Neurology Unit, University Hospital of Parma, Parma, ItalySearch for more papers by this author Enrico Ambrosini MD, Enrico Ambrosini MD orcid.org/0000-0002-7520-3721 Medical Genetics Unit, University Hospital of Parma, Parma, ItalySearch for more papers by this authorRita Cancilla MD, Rita Cancilla MD Neurology, Department of Medicine and Surgery, University of Parma, Parma, ItalySearch for more papers by this authorJefri Jeya Paul PhD, Jefri Jeya Paul PhD Centogene GmbH, Rostock, GermanySearch for more papers by this authorPeter Bauer MD, Peter Bauer MD Centogene GmbH, Rostock, GermanySearch for more papers by this authorBarbara Garavaglia PhD, Barbara Garavaglia PhD Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico “C. Besta”, Milan, ItalySearch for more papers by this authorValeria Barili PhD, Valeria Barili PhD Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, ItalySearch for more papers by this authorAntonio Percesepe MD, PhD, Corresponding Author Antonio Percesepe MD, PhD [email protected] Medical Genetics Unit, University Hospital of Parma, Parma, Italy Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy Correspondence to: Dr. A. Percesepe, Department of Medicine and Surgery, University of Parma, Via Antonio Gramsci, 14–43126 Parma, Italy; E-mail: [email protected]Search for more papers by this authorAnna Negrotti MD, PhD, Anna Negrotti MD, PhD Neurology Unit, University Hospital of Parma, Parma, ItalySearch for more papers by this author First published: 15 February 2024 https://doi.org/10.1002/mds.29745 Relevant conflicts of interest/financial disclosures: The authors declare that there are no conflicts of interest relevant to this work. Funding agency: This study was partially supported by the “Fondazione Emma ed Ernesto Rulfo per la Genetica Medica”. 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. Open Research Data Availability Statement The data that support the findings of this study are available from the corresponding author upon reasonable request. References 1Wang Y, Zhao Y, Pan H, et al. Genetic analysis of dystonia-related genes in Parkinson's disease. Front Aging Neurosci 2023; 15:1207114. 10.3389/fnagi.2023.1207114 CASPubMedGoogle Scholar 2Fuchs T, Gavarini S, Saunders-Pullman R, et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 2009; 41(3): 286–288. 10.1038/ng.304 CASPubMedWeb of Science®Google Scholar 3Courtin E, Poblete NH, Clot F, Guehl D, Burbaud P. Late-onset parkinsonism in a patient with a novel frameshift THAP1 variant. Parkinsonism Relat Disord 2023;105900. https://doi.org/10.1016/j.parkreldis.2023.105900 Epub ahead of print. 10.1016/j.parkreldis.2023.105900 PubMedGoogle Scholar 4Skrahina V, Gaber H, Vollstedt EJ, et al. The Rostock International Parkinson's Disease (ROPAD) study: protocol and initial findings. Mov Disord 2021; 36(4): 1005–1010. https://doi.org/10.1002/mds.28416 10.1002/mds.28416 CASPubMedWeb of Science®Google Scholar 5Reale C, Panteghini C, Carecchio M, Garavaglia B. The relevance of gene panels in movement disorders diagnosis: a lab perspective. Eur J Paediatr Neurol 2018; 22(2): 285–291. 10.1016/j.ejpn.2018.01.013 PubMedGoogle Scholar 6LeDoux MS, Xiao J, Rudzińska M, et al. Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. Parkinsonism Relat Disord 2012; 18(5): 414–425. 10.1016/j.parkreldis.2012.02.001 PubMedWeb of Science®Google Scholar 7Danielsson A, Carecchio M, Cif L, et al. Pallidal deep brain stimulation in DYT6 dystonia: clinical outcome and predictive factors for motor improvement. J Clin Med 2019; 8(12):2163. 10.3390/jcm8122163 PubMedWeb of Science®Google Scholar Early ViewOnline Version of Record before inclusion in an issue ReferencesRelatedInformation
更多
查看译文
关键词
Transcriptome Diversity
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
0
您的评分 :

暂无评分

数据免责声明
页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果,我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问,可以通过电子邮件方式联系我们:report@aminer.cn