Produção Nacional
Revisado por pares
Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus‐dystonia
2007; Wiley; Volume: 22; Issue: 8 Linguagem: Inglês
10.1002/mds.21380
ISSN1531-8257
AutoresVanderci Borges, Patrícia de Carvalho Aguiar, Henrique Ballalai Ferraz, Laurie J. Ozelius,
Tópico(s)Genetics and Neurodevelopmental Disorders
ResumoMovement DisordersVolume 22, Issue 8 p. 1208-1209 Letter to the Editors Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus-dystonia Vanderci Borges MD, PhD, Corresponding Author Vanderci Borges MD, PhD [email protected] Movement Disorders Unit Department of Neurology and Neurosurgery Universidade Federal de São Paulo Escola Paulista de Medicina São Paulo, BrazilAv. Dr. Altino Arantes, 895 ap 114, São Paulo-SP, 04042-034 BrazilSearch for more papers by this authorPatricia de Carvalho Aguiar MD, PhD, Patricia de Carvalho Aguiar MD, PhD Movement Disorders Unit Department of Neurology and Neurosurgery Universidade Federal de São Paulo Escola Paulista de Medicina São Paulo, BrazilSearch for more papers by this authorHenrique Ballalai Ferraz MD, PhD, Henrique Ballalai Ferraz MD, PhD Movement Disorders Unit Department of Neurology and Neurosurgery Universidade Federal de São Paulo Escola Paulista de Medicina São Paulo, BrazilSearch for more papers by this authorLaurie J. Ozelius PhD, Laurie J. Ozelius PhD Department of Molecular Genetics Albert Einstein College of Medicine Bronx, New YorkSearch for more papers by this author Vanderci Borges MD, PhD, Corresponding Author Vanderci Borges MD, PhD [email protected] Movement Disorders Unit Department of Neurology and Neurosurgery Universidade Federal de São Paulo Escola Paulista de Medicina São Paulo, BrazilAv. Dr. Altino Arantes, 895 ap 114, São Paulo-SP, 04042-034 BrazilSearch for more papers by this authorPatricia de Carvalho Aguiar MD, PhD, Patricia de Carvalho Aguiar MD, PhD Movement Disorders Unit Department of Neurology and Neurosurgery Universidade Federal de São Paulo Escola Paulista de Medicina São Paulo, BrazilSearch for more papers by this authorHenrique Ballalai Ferraz MD, PhD, Henrique Ballalai Ferraz MD, PhD Movement Disorders Unit Department of Neurology and Neurosurgery Universidade Federal de São Paulo Escola Paulista de Medicina São Paulo, BrazilSearch for more papers by this authorLaurie J. Ozelius PhD, Laurie J. Ozelius PhD Department of Molecular Genetics Albert Einstein College of Medicine Bronx, New YorkSearch for more papers by this author First published: 19 June 2007 https://doi.org/10.1002/mds.21380Citations: 9Read 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 Klein C. Myoclonus and myoclonus-dystonias. In: SM Pulst, editor. Genetics of movement disorders. New York: Academic Press; 2003. p 451–471. 2 Saunders-Pullman R, Shriberg J, Heiman G, et al. Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence. Neurology 2002; 58: 242–245. 3 O'Riordan S, Ozelius LJ, de Carvalho Aguiar P, Hutchinson M, King M, Lynch T. Inherited myoclonus-dystonia and epilepsy: further evidence of an association? Mov Disord 2004; 19: 1456–1459. 4 Foncke EM, Klein C, Koelman JHTM, et al. Hereditary myoclonus-dystonia associated with epilepsy. Neurology 2003; 60: 1988–1990. 5 Zimprich A, Grabowski M, Asmus F, et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001; 29: 66–69. 6 Muller B, Hedrich K, Kock N, et al. Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Am J Hum Genet 2002; 71: 1303–1311. 7 Klein C; Liu L, Doheny D, et al. Epsilon-sarcoglycan mutations found in combination with other gene mutations. Ann Neurol 2002; 52: 675–679. 8 Grimes Da, Han F, Lang AE, et al. A novel locus for inherited myoclonus-dystonia on 18p11. Neurology 2002; 59: 1183–1186. 9 Borges V, Ferraz HB, de Andrade LA. Alcohol-sensitive hereditary essential myoclonus with dystonia: a study of 6 Brazilian patients. Neurol Sci 2000; 21: 373–377. 10 De Carvalho Aguiar P, Fazzari M, Jankovic J, Ozelius LJ. Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder. Mov Disord 2004; 19: 1237–1238. 11 Tezenas Du Montcel S, Clot F, Vidailhet M, et al. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. J Med Genet 2006; 43: 394–400. 12 Hedrich K, Meyer EM, Schüle B, et al. Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. Neurology 2004; 62: 1229–1231. 13 Valente E-M, Misbahuddin A, Brancati F, et al. Analysis of the ϵ-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. Mov Disord 2003; 18: 1047–1051. 14 Gerrits MC, Foncke EM, de Haan R, et al. Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia. Neurology 2006; 66: 759–761. Citing Literature Volume22, Issue815 June 2007Pages 1208-1209 ReferencesRelatedInformation
Referência(s)