Open Access. Powered by Scholars. Published by Universities.®
Articles 1 - 1 of 1
Full-Text Articles in Life Sciences
Typical Friedreich’S Ataxia Without Gaa Expansions And Gaa Epansions Wthout Typical Friedreich’S Ataxia, Dominick Mccabe, Fergus Ryan, D. Moore, Shirley Mcquaid, M. King, A. Kelly, K. Daly, David Barton, R. Murphy
Typical Friedreich’S Ataxia Without Gaa Expansions And Gaa Epansions Wthout Typical Friedreich’S Ataxia, Dominick Mccabe, Fergus Ryan, D. Moore, Shirley Mcquaid, M. King, A. Kelly, K. Daly, David Barton, R. Murphy
Articles
We clinically assessed and performed polymerase chain reaction analysis for the GAA trinucleotide repeat expansion in 103 patients from 73 families in Ireland, with a prior clinical diagnosis of Friedreich’s ataxia (FA) or an unclassified progressive ataxic syndrome. The patients were classified as “typical” or “atypical” FA according to Harding’s mandatory clinical diagnostic criteria. All patients underwent blood glucose analysis, and electrocardiography and echocardiography was performed in 99 and 101 patients, respectively. Mutation screening for expanded CAG trinucleotide repeats, associated with spinocerebellar ataxia (SCA) 1, 2, 3 and 6 was performed in 86 patients overall, including all GAA negative patients. …