title: Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene.
abstract: Phenotype of patients with the aprataxin gene mutation varies and according to previous studies, screening of aprataxin gene could be useful, once frataxin gene mutation is excluded in patients with normal GAA expansion in frataxin gene. In the present study, we sought to determine possible causative mutations in aprataxin gene (all exons and flanking intronic sequences) in 14 Greek patients with sporadic cerebellar ataxia all but one without GAA expansion in frataxin gene (1 patient was heterozygous). No detectable point mutation or deletion was found in the aprataxin gene of all the patients. Our results do not confirm the previous studies. This difference may be attributed to the different populations studied and possible different genetic background. It is still questionable whether the screening for aprataxin mutation in Greek patients' Friedreich ataxia phenotype is of clinical importance; larger, multicenter studies are necessary to clarify this issue.
authors: Laboratory of Neurogenetics, Neuroscience Unit, Department of Neurology, Faculty of Medicine, University of Thessalia, Larissa, Greece.
authors: C
authors: C
authors: Daiou
authors: K
authors: K
authors: Christodoulou
authors: G
authors: G
authors: Xiromerisiou
authors: M
authors: M
authors: Panas
authors: E
authors: E
authors: Dardiotis
authors: A
authors: A
authors: Kladi
authors: M
authors: M
authors: Speletas
authors: G
authors: G
authors: Ntaios
authors: A
authors: A
authors: Papadimitriou
authors: A
authors: A
authors: Germenis
authors: Georgios M
authors: GM
authors: Hadjigeorgiou
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D006115:Greece; D006801:Humans; D007438:Introns; D033862:Iron-Binding Proteins / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D013132:Spinocerebellar Degenerations / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion; D018911:Trinucleotide Repeats; D055815:Young Adult; D000096923:Frataxin
chemical_list: D004268:DNA-Binding Proteins; D033862:Iron-Binding Proteins; D009687:Nuclear Proteins; D000096923:Frataxin; C438188:APTX protein, human