Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene.

Neurol Sci. 2009 Dec 2.

Daiou C, Christodoulou K, Xiromerisiou G, Panas M, Dardiotis E, Kladi A, Speletas M, Ntaios G, Papadimitriou A, Germenis A, Hadjigeorgiou GM.

Laboratory of Neurogenetics, Neuroscience Unit, Department of Neurology, Faculty of Medicine, University of Thessalia, Larissa, Greece.

Keywords: Phenotype, aprataxin gene mutation,  GAA expansion,  frataxin gene, exons, flanking intronic sequences, cerebellar ataxia, point mutation, Friedreich ataxia.