Clinical and molecular studies in five brazilian cases of Friedreich ataxia

dc.creatorSchwartz, Ida Vanessa Doederlein
dc.creatorJardim, Laura Bannach
dc.creatorPuga, Ana Cristina Scheidt
dc.creatorLeistner-Segal, Sandra
dc.date2010-05-12T04:16:33Z
dc.date1999
dc.identifier0004-282X
dc.identifierhttp://hdl.handle.net/10183/21885
dc.identifier000298844
dc.descriptionFriedreich 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.
dc.formatapplication/pdf
dc.languageeng
dc.relationArquivos de neuro-psiquiatria. Vol. 57, n. 1 (1999), p. 1-5
dc.rightsOpen Access
dc.subjectFriedreich ataxia
dc.subjectCerebellar ataxia
dc.subjectExpansion of unstable repeats
dc.subjectAtaxia de Friedreich
dc.titleClinical and molecular studies in five brazilian cases of Friedreich ataxia
dc.typeArtigo de periódico
dc.typeNacional


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