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Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds
2001; Wiley; Volume: 104; Issue: 4 Linguagem: Inglês
10.1034/j.1600-0404.2001.00020.x
ISSN1600-0404
AutoresLaura Bannach Jardim, Maria Luiza Saraiva Pereira, Isabel Silveira, Anabela Ferro, Jorge Sequeiros, Roberto Giugliani,
Tópico(s)Lysosomal Storage Disorders Research
ResumoActa Neurologica ScandinavicaVolume 104, Issue 4 p. 224-231 Machado–Joseph disease in South Brazil: clinical and molecular characterization of kindreds L. B. Jardim, L. B. Jardim Medical Genetics Service, Hospital de Clínicas de Porto Alegre; Departments of, Internal Medicine,Search for more papers by this authorM. L. Pereira, M. L. Pereira Medical Genetics Service, Hospital de Clínicas de Porto Alegre; Departments of, Biochemistry andSearch for more papers by this authorI. Silveira, I. Silveira UniGENe, Instituto de Biologia Molecular e Celular, Universidade do Porto, PortugalSearch for more papers by this authorA. Ferro, A. Ferro UniGENe, Instituto de Biologia Molecular e Celular, Universidade do Porto, PortugalSearch for more papers by this authorJ. Sequeiros, J. Sequeiros UniGENe, Instituto de Biologia Molecular e Celular, Universidade do Porto, PortugalSearch for more papers by this authorR. Giugliani, R. Giugliani Medical Genetics Service, Hospital de Clínicas de Porto Alegre; Departments of, Genetics, Universidade Federal do Rio Grande do Sul, Brazil, andSearch for more papers by this author L. B. Jardim, L. B. Jardim Medical Genetics Service, Hospital de Clínicas de Porto Alegre; Departments of, Internal Medicine,Search for more papers by this authorM. L. Pereira, M. L. Pereira Medical Genetics Service, Hospital de Clínicas de Porto Alegre; Departments of, Biochemistry andSearch for more papers by this authorI. Silveira, I. Silveira UniGENe, Instituto de Biologia Molecular e Celular, Universidade do Porto, PortugalSearch for more papers by this authorA. Ferro, A. Ferro UniGENe, Instituto de Biologia Molecular e Celular, Universidade do Porto, PortugalSearch for more papers by this authorJ. Sequeiros, J. Sequeiros UniGENe, Instituto de Biologia Molecular e Celular, Universidade do Porto, PortugalSearch for more papers by this authorR. Giugliani, R. Giugliani Medical Genetics Service, Hospital de Clínicas de Porto Alegre; Departments of, Genetics, Universidade Federal do Rio Grande do Sul, Brazil, andSearch for more papers by this author First published: 31 October 2002 https://doi.org/10.1034/j.1600-0404.2001.00020.xCitations: 40 Laura B. Jardim, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 235090,035–003 Porto Alegre, BrazilTel.: +55 51 316 8011Fax: +55 51 316 8010e-mail: [email protected] 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 Abstract Objective– To examine the clinical, genetic, and molecular characteristics of a group of MJD patients recently identified in the southernmost state of Brazil, and compare these data with studies from the literature. Methods– Some 62 individuals from 35 families, mostly of Azorean ancestry, had their clinical data and their MJD1 expanded regions examined. Results– The present patients had an earlier age of onset, on average, than Portuguese–Azorean cases. Their survival, proportion of types, average anticipation, proportion of affected versus non-affected siblings, neurological signs and molecular findings are similar to those observed in patients previously described. Type 1 patients with male transmission showed worse anticipations than type 1 patients with female transmission. Patients with type 1 had also larger CAG expansions than other patients. Conclusions– The Brazilian origin seemed to affect the age of onset. We also noted that there were no differences other than the neurological between types 2 or 3, since both are similar in age of onset, disease duration and length of CAG repeats. We addressed the question of maintaining or not subtypes 2 and 3 separated, among patients with genetic and geographical backgrounds like the presented patients here. References 1 Nakano KK, Dawson DM, Spence A. Machado disease. A hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology 1972; 22: 49. 2 Woods BT & Schaumburg HH. Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity. J Neurol Sci 1972; 17: 149– 66. 3 Rosenberg RN, Nyhan WL, Bay C, Shore P. Autosomal dominant striatonigral degeneration. Neurology 1976; 26: 703– 14. 4 Sequeiros J & Coutinho P. Epidemiology and Clinical Aspects of Machado–Joseph Disease. In: A Harding, T Deufel, S Chamberlain, eds. Hereditary Ataxias. Adv Neurol 1993; 61: 139– 53, New York, NY: Raven Press. 5 Lopes-Cendes I, Teive HGA, Cardoso F et al. Molecular characteristics of Machado–Joseph disease mutation in 25 newly described Brazilian families. Braz J Genet 1997; 20: 717– 24. 6 Lima L & Coutinho P. Clinical criteria for diagnosis of Machado–Joseph disease: report of a non-Azorean Portuguese family. Neurology 1980; 30: 319– 22. 7 Takiyama Y, Nishizawa M, Tanaka H et al. The gene for Machado–Joseph disease maps to human chromosome 14q. Nat Genet 1993; 4: 300– 3. 8 Kawaguchi Y, Okamoto T, Taniwaki M et al. CAG expansions in a novel gene for Machado–Joseph disease at chromosome 14q32.1. Nat Genet 1994; 8: 221– 8. 9 Maciel P, Gaspar C, DeStefano AL et al. Correlation between CAG repeat length and clinical features in Machado–Joseph disease. Am J Hum Genet 1995; 57: 54– 61. 10 Maruyama H, Nakamura S, Matsuyama Z et al. Molecular features of the CAG repeats and clinical manifestation of Machado–Joseph disease. Hum Mol Genet 1995; 4: 807– 12. 11 Jardim LB, Silveira I, Pereira ML et al. A survey on autosomal dominant spinocerebellar ataxia in South Brazil – clinical and molecular studies of 39 families with Machado–Joseph disease, SCA7 and SCA8. Submitted for publication 2000. 12 Silveira I, Coutinho P, Maciel P et al. Molecular genetic studies in spinocerebellar ataxias: analysis of SCA1, DRPLA and MJD mutations in patients from 48 Portuguese ataxia families. Am J Med Genet (Neuropsychiat Genet) 1998; 81: 134– 8. 13 Iughetti P, Otto PA, Zatz M, Passos-Bueno MR. Different behavior in the paternally vs maternally inherited mutated allele in Brazilian Machado–Joseph (MJD1) families. Am J Med Genet 1998; 77: 246– 8.DOI: 10.1002/(sici)1096-8628(19980518)77:3 3.0.co;2-g 14 Piazza WF. A epopéia açórico-madeirense 1748–1756. Florianópolis: Editora da UFSC, 1992. 15 Ikeuchi T, Igarashi S, Takiyama Y et al. Non-mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado–Joseph disease: the mutant allele is preferentially transmitted in male meiosis. Am J Hum Genet 1996; 58: 730– 3. 16 Riess O, Epplen JT, Amoiridis G, Przuntek H, Schöls L. Transmission distortion of the mutant alleles in spinocerebellar ataxia. Hum Genet 1997; 99: 282– 4.DOI: 10.1007/s004390050355 Citing Literature Volume104, Issue4October 2001Pages 224-231 ReferencesRelatedInformation
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