Clinical and molecular studies in five brazilian cases of Friedreich ataxia

Detalhes bibliográficos
Autor(a) principal: Schwartz, Ida Vanessa Doederlein
Data de Publicação: 1999
Outros Autores: Jardim, Laura Bannach, Puga, Ana Cristina Scheidt, Leistner-Segal, Sandra
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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spelling 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.
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dc.relation.ispartof.pt_BR.fl_str_mv Arquivos de neuro-psiquiatria. Vol. 57, n. 1 (1999), p. 1-5
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