Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion

Campuzano, V.; Montermini, L.; Molto, M. D.; Pianese, L.; Cossee, M.; Cavalcanti, F.; Monros, E.; Rodius, F.; Duclos, F.; Monticelli, A.; Zara, F.; Canizares, J.; Koutnikova, H.; Bidichandani, S. I.; Gellera, C.; Brice, A.; Trouillas, P.; De Michele, G.; Filla, A.; De Frutos, R.; Palau, F.; Patel, P. I.; Di Donato, S.; Mandel, J. -L.; Cocozza, S.; Koenig, M.; Pandolfo, M.

doi:10.1126/science.271.5254.1423

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. The 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.

Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion

Campuzano V.;Montermini L.;Molto M. D.;Pianese L.;Cossee M.;Cavalcanti F.;Monros E.;Rodius F.;Duclos F.;Monticelli A.;Zara F.;Canizares J.;Koutnikova H.;Bidichandani S. I.;Gellera C.;Brice A.;Trouillas P.;De Michele G.;Filla A.;De Frutos R.;Palau F.;Patel P. I.;Di Donato S.;Mandel J. -L.;Cocozza S.;Koenig M.;Pandolfo M.

1996-01-01

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. The 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.