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dc.contributor.authorSchwartz, Ida Vanessa Doederleinpt_BR
dc.contributor.authorJardim, Laura Bannachpt_BR
dc.contributor.authorPuga, Ana Cristina Scheidtpt_BR
dc.contributor.authorLeistner-Segal, Sandrapt_BR
dc.date.accessioned2010-05-12T04:16:33Zpt_BR
dc.date.issued1999pt_BR
dc.identifier.issn0004-282Xpt_BR
dc.identifier.urihttp://hdl.handle.net/10183/21885pt_BR
dc.description.abstractFriedreich 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.en
dc.format.mimetypeapplication/pdf
dc.language.isoengpt_BR
dc.relation.ispartofArquivos de neuro-psiquiatria. São Paulo. Vol. 57, n. 1 (1999), p. 1-5pt_BR
dc.rightsOpen Accessen
dc.subjectFriedreich ataxiaen
dc.subjectAtaxia de Friedreichpt_BR
dc.subjectCerebellar ataxiaen
dc.subjectExpansion of unstable repeatsen
dc.titleClinical and molecular studies in five brazilian cases of Friedreich ataxiapt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb000298844pt_BR
dc.type.originNacionalpt_BR


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