title: High frequency of Friedreich's ataxia carriers in the Paphos district of Cyprus.
abstract: A cluster of Friedreich's ataxia patients has been previously investigated in two neighbouring villages of the Paphos district of Cyprus. Molecular genetic studies revealed that all patients had the most common mutation, a homozygous expansion of the GAA triplet repeat in the first intron of the frataxin gene. The present study is aimed at estimating the mutation carrier frequency in the broader area of Paphos. Overall, 1050 individuals originating from the Paphos district took part in the programme. Blood samples were collected for a period of 18 months, on a voluntary basis, after signing a consent form, and analysis of the GAA triplet repeat was performed. The frequency of mutation carriers in the broader area of the Paphos district, and excluding the two neighbouring cluster villages, is estimated to be high. We recommend that an organized prevention programme be implemented to cover the population from this region.
authors.affiliation: The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
authors.forename: E
authors.initials: E
authors.lastname: Zamba-Papanicolaou
authors.forename: P
authors.initials: P
authors.lastname: Koutsou
authors.forename: C
authors.initials: C
authors.lastname: Daiou
authors.forename: E
authors.initials: E
authors.lastname: Gaglia
authors.forename: A
authors.initials: A
authors.lastname: Georghiou
authors.forename: K
authors.initials: K
authors.lastname: Christodoulou
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003535:Cyprus / Q000453:epidemiology; D005621:Friedreich Ataxia / Q000453:epidemiology* / Q000235:genetics*; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007438:Introns / Q000235:genetics; D033862:Iron-Binding Proteins / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D015995:Prevalence; D018911:Trinucleotide Repeats / Q000235:genetics; D055815:Young Adult; D000096923:Frataxin
chemical_list: D033862:Iron-Binding Proteins; D000096923:Frataxin