title: Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
abstract: Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. This gene encodes a 210-amino acid protein, frataxin, that has homologs in distant species such as Caenorhabditis elegans and yeast. A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.
authors.affiliation: Department de Genetica, University of Valencia, Spain.
authors.forename: V
authors.initials: V
authors.lastname: Campuzano
authors.forename: L
authors.initials: L
authors.lastname: Montermini
authors.forename: M D
authors.initials: MD
authors.lastname: Moltò
authors.forename: L
authors.initials: L
authors.lastname: Pianese
authors.forename: M
authors.initials: M
authors.lastname: Cossée
authors.forename: F
authors.initials: F
authors.lastname: Cavalcanti
authors.forename: E
authors.initials: E
authors.lastname: Monros
authors.forename: F
authors.initials: F
authors.lastname: Rodius
authors.forename: F
authors.initials: F
authors.lastname: Duclos
authors.forename: A
authors.initials: A
authors.lastname: Monticelli
authors.forename: F
authors.initials: F
authors.lastname: Zara
authors.forename: J
authors.initials: J
authors.lastname: Cañizares
authors.forename: H
authors.initials: H
authors.lastname: Koutnikova
authors.forename: S I
authors.initials: SI
authors.lastname: Bidichandani
authors.forename: C
authors.initials: C
authors.lastname: Gellera
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: P
authors.initials: P
authors.lastname: Trouillas
authors.forename: G
authors.initials: G
authors.lastname: De Michele
authors.forename: A
authors.initials: A
authors.lastname: Filla
authors.forename: R
authors.initials: R
authors.lastname: De Frutos
authors.forename: F
authors.initials: F
authors.lastname: Palau
authors.forename: P I
authors.initials: PI
authors.lastname: Patel
authors.forename: S
authors.initials: S
authors.lastname: Di Donato
authors.forename: J L
authors.initials: JL
authors.lastname: Mandel
authors.forename: S
authors.initials: S
authors.lastname: Cocozza
authors.forename: M
authors.initials: M
authors.lastname: Koenig
authors.forename: M
authors.initials: M
authors.lastname: Pandolfo
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D017931:DNA Primers; D005260:Female; D005621:Friedreich Ataxia / Q000235:genetics*; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D007438:Introns; D033862:Iron-Binding Proteins; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D016415:Sequence Alignment; D018911:Trinucleotide Repeats; D000096923:Frataxin
chemical_list: D017931:DNA Primers; D033862:Iron-Binding Proteins; D011506:Proteins; D000096923:Frataxin