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Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum

2008; Wiley; Volume: 23; Issue: 6 Linguagem: Inglês

10.1002/mds.21942

1531-8257

S. Zhang, Qin Chen, Xue‐Ping Chen, Jiangang Wang, Jean‐Marc Burgunder, Huifang Shang, Jean‐Marc Burgunder, Yuan Yang,

Neurogenetic and Muscular Disorders Research

Movement DisordersVolume 23, Issue 6 p. 917-919 Letter to the Editor Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum Shu-Shan Zhang MD, Shu-Shan Zhang MD Department of Neurology, West China Hospital, Sichuan University, Chengdu, SiChuan, ChinaSearch for more papers by this authorQin Chen MD, Qin Chen MD Department of Neurology, West China Hospital, Sichuan University, Chengdu, SiChuan, ChinaSearch for more papers by this authorXue-Ping Chen MD, Xue-Ping Chen MD Department of Neurology, West China Hospital, Sichuan University, Chengdu, SiChuan, ChinaSearch for more papers by this authorJian-Gang Wang MD, Jian-Gang Wang MD Department of Neurology, West China Hospital, Sichuan University, Chengdu, SiChuan, ChinaSearch for more papers by this authorJean-Marc Burgunder MD, Jean-Marc Burgunder MD Department of Neurology, West China Hospital, Sichuan University, Chengdu, SiChuan, ChinaSearch for more papers by this authorHui-Fang Shang MD, Hui-Fang Shang MD [email protected] Department of Neurology, West China Hospital, Sichuan University, Chengdu, SiChuan, ChinaSearch for more papers by this authorJean-Marc Burgunder MD, Jean-Marc Burgunder MD Department of Neurology, University of Bern, Inselspital, Bern, SwitzerlandSearch for more papers by this authorYuan Yang MD, Yuan Yang MD Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, SiChuan, ChinaSearch for more papers by this author Shu-Shan Zhang MD, Shu-Shan Zhang MD Department of Neurology, West China Hospital, Sichuan University, Chengdu, SiChuan, ChinaSearch for more papers by this authorQin Chen MD, Qin Chen MD Department of Neurology, West China Hospital, Sichuan University, Chengdu, SiChuan, ChinaSearch for more papers by this authorXue-Ping Chen MD, Xue-Ping Chen MD Department of Neurology, West China Hospital, Sichuan University, Chengdu, SiChuan, ChinaSearch for more papers by this authorJian-Gang Wang MD, Jian-Gang Wang MD Department of Neurology, West China Hospital, Sichuan University, Chengdu, SiChuan, ChinaSearch for more papers by this authorJean-Marc Burgunder MD, Jean-Marc Burgunder MD Department of Neurology, West China Hospital, Sichuan University, Chengdu, SiChuan, ChinaSearch for more papers by this authorHui-Fang Shang MD, Hui-Fang Shang MD [email protected] Department of Neurology, West China Hospital, Sichuan University, Chengdu, SiChuan, ChinaSearch for more papers by this authorJean-Marc Burgunder MD, Jean-Marc Burgunder MD Department of Neurology, University of Bern, Inselspital, Bern, SwitzerlandSearch for more papers by this authorYuan Yang MD, Yuan Yang MD Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, SiChuan, ChinaSearch for more papers by this author First published: 24 April 2008 https://doi.org/10.1002/mds.21942Citations: 11Read 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. References 1 Nakamura A, Izumi K, Umehara F, et al. Familial spastic paraplegia with mental impairment and thin corpus callosum. J Neurol Sci 1995; 131: 35–42. 2 Casali C, Valente EM, Bertini E, et al. Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. Neurology 2004; 62: 262–268. 3 Stevanin G, Santorelli FM, Azzedine H, et al. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 2007; 39: 366–372. 4 Del Bo R, Di Fonzo A, Ghezzi S, et al. SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation. Neurogenetics 2007; 8: 301–305. Citing Literature Volume23, Issue630 April 2008Pages 917-919 ReferencesRelatedInformation