Clinical and molecular studies in five brazilian cases of Friedreich ataxia
Autor(a) principal: | |
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Data de Publicação: | 1999 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/21885 |
Resumo: | Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: four with typical FRDA findings and one patient with atypical manifestations, who was considered to have some other form of cerebellar ataxia with retained reflexes. The GAA expansion was detected in all these patients. The confirmation of FRDA diagnosis in the atypical case may be pointing out, as in other reports, that clinical spectrum of Friedreich’s ataxia is broader than previously recognised and includes cases with intact tendon reflexes. |
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Schwartz, Ida Vanessa DoederleinJardim, Laura BannachPuga, Ana Cristina ScheidtLeistner-Segal, Sandra2010-05-12T04:16:33Z19990004-282Xhttp://hdl.handle.net/10183/21885000298844Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: four with typical FRDA findings and one patient with atypical manifestations, who was considered to have some other form of cerebellar ataxia with retained reflexes. The GAA expansion was detected in all these patients. The confirmation of FRDA diagnosis in the atypical case may be pointing out, as in other reports, that clinical spectrum of Friedreich’s ataxia is broader than previously recognised and includes cases with intact tendon reflexes.application/pdfengArquivos de neuro-psiquiatria. Vol. 57, n. 1 (1999), p. 1-5Ataxia de FriedreichFriedreich ataxiaCerebellar ataxiaExpansion of unstable repeatsClinical and molecular studies in five brazilian cases of Friedreich ataxiainfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSORIGINAL000298844.pdf000298844.pdfTexto completo (inglês)application/pdf134434http://www.lume.ufrgs.br/bitstream/10183/21885/1/000298844.pdf6278f7eb7681a0165ecc58a1443d1874MD51TEXT000298844.pdf.txt000298844.pdf.txtExtracted Texttext/plain15720http://www.lume.ufrgs.br/bitstream/10183/21885/2/000298844.pdf.txt5f9438572b9a0b6032656f70020a598dMD52THUMBNAIL000298844.pdf.jpg000298844.pdf.jpgGenerated Thumbnailimage/jpeg1840http://www.lume.ufrgs.br/bitstream/10183/21885/3/000298844.pdf.jpgf274e7d16084bf1f6e5fef2c5743ff5cMD5310183/218852023-06-03 03:38:05.987654oai:www.lume.ufrgs.br:10183/21885Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2023-06-03T06:38:05Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Clinical and molecular studies in five brazilian cases of Friedreich ataxia |
title |
Clinical and molecular studies in five brazilian cases of Friedreich ataxia |
spellingShingle |
Clinical and molecular studies in five brazilian cases of Friedreich ataxia Schwartz, Ida Vanessa Doederlein Ataxia de Friedreich Friedreich ataxia Cerebellar ataxia Expansion of unstable repeats |
title_short |
Clinical and molecular studies in five brazilian cases of Friedreich ataxia |
title_full |
Clinical and molecular studies in five brazilian cases of Friedreich ataxia |
title_fullStr |
Clinical and molecular studies in five brazilian cases of Friedreich ataxia |
title_full_unstemmed |
Clinical and molecular studies in five brazilian cases of Friedreich ataxia |
title_sort |
Clinical and molecular studies in five brazilian cases of Friedreich ataxia |
author |
Schwartz, Ida Vanessa Doederlein |
author_facet |
Schwartz, Ida Vanessa Doederlein Jardim, Laura Bannach Puga, Ana Cristina Scheidt Leistner-Segal, Sandra |
author_role |
author |
author2 |
Jardim, Laura Bannach Puga, Ana Cristina Scheidt Leistner-Segal, Sandra |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Schwartz, Ida Vanessa Doederlein Jardim, Laura Bannach Puga, Ana Cristina Scheidt Leistner-Segal, Sandra |
dc.subject.por.fl_str_mv |
Ataxia de Friedreich |
topic |
Ataxia de Friedreich Friedreich ataxia Cerebellar ataxia Expansion of unstable repeats |
dc.subject.eng.fl_str_mv |
Friedreich ataxia Cerebellar ataxia Expansion of unstable repeats |
description |
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: four with typical FRDA findings and one patient with atypical manifestations, who was considered to have some other form of cerebellar ataxia with retained reflexes. The GAA expansion was detected in all these patients. The confirmation of FRDA diagnosis in the atypical case may be pointing out, as in other reports, that clinical spectrum of Friedreich’s ataxia is broader than previously recognised and includes cases with intact tendon reflexes. |
publishDate |
1999 |
dc.date.issued.fl_str_mv |
1999 |
dc.date.accessioned.fl_str_mv |
2010-05-12T04:16:33Z |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/other |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10183/21885 |
dc.identifier.issn.pt_BR.fl_str_mv |
0004-282X |
dc.identifier.nrb.pt_BR.fl_str_mv |
000298844 |
identifier_str_mv |
0004-282X 000298844 |
url |
http://hdl.handle.net/10183/21885 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.pt_BR.fl_str_mv |
Arquivos de neuro-psiquiatria. Vol. 57, n. 1 (1999), p. 1-5 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
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application/pdf |
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Repositório Institucional da UFRGS |
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