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

Victoria Campuzano; Laura Montermini; Maria Dolores Moltò; Luigi Pianese; Mireille Cossée; Francesca Cavalcanti; Eugenia Monros; François Rodius; Franck Duclos; Antonella Monticelli; Federico Zara; Joaquin Cañizares; Hana Koutnikova; Sanjay I. Bidichandani; Cinzia Gellera; Alexis Brice; Paul Trouillas; Giuseppe De Michele; Alessandro Filla; Rosa De Frutos; Francisco Palau; Pragna I. Patel; Stefano Di Donato; Jean Louis Mandel; Sergio Cocozza; Michel Koenig; Massimo Pandolfo

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

Victoria Campuzano, Laura Montermini, Maria Dolores Moltò, Luigi Pianese, Mireille Cossée, Francesca Cavalcanti, Eugenia Monros, François Rodius, Franck Duclos, Antonella Monticelli, Federico Zara, Joaquin Cañizares, Hana Koutnikova, Sanjay I. Bidichandani, Cinzia Gellera, Alexis Brice, Paul Trouillas, Giuseppe De Michele, Alessandro Filla, Rosa De FrutosFrancisco Palau, Pragna I. Patel, Stefano Di Donato, Jean Louis Mandel, Sergio Cocozza, Michel Koenig, Massimo Pandolfo

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	1423-1427
Number of pages	5
Journal	Science
Volume	271
Issue number	5254
Publication status	Published - Mar 8 1996

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Campuzano, V., Montermini, L., Moltò, M. D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., Zara, F., Cañizares, J., Koutnikova, H., Bidichandani, S. I., Gellera, C., Brice, A., Trouillas, P., De Michele, G., Filla, A., ... Pandolfo, M. (1996). Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science, 271(5254), 1423-1427.

Friedreich's ataxia : Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. / Campuzano, Victoria; Montermini, Laura; Moltò, Maria Dolores; Pianese, Luigi; Cossée, Mireille; Cavalcanti, Francesca; Monros, Eugenia; Rodius, François; Duclos, Franck; Monticelli, Antonella; Zara, Federico; Cañizares, Joaquin; Koutnikova, Hana; Bidichandani, Sanjay I.; Gellera, Cinzia; Brice, Alexis; Trouillas, Paul; De Michele, Giuseppe; Filla, Alessandro; De Frutos, Rosa; Palau, Francisco; Patel, Pragna I.; Di Donato, Stefano; Mandel, Jean Louis; Cocozza, Sergio; Koenig, Michel; Pandolfo, Massimo.

In: Science, Vol. 271, No. 5254, 08.03.1996, p. 1423-1427.

Research output: Contribution to journal › Article › peer-review

Campuzano, V, Montermini, L, Moltò, MD, Pianese, L, Cossée, M, Cavalcanti, F, Monros, E, Rodius, F, Duclos, F, Monticelli, A, Zara, F, Cañizares, J, Koutnikova, H, Bidichandani, SI, Gellera, C, Brice, A, Trouillas, P, De Michele, G, Filla, A, De Frutos, R, Palau, F, Patel, PI, Di Donato, S, Mandel, JL, Cocozza, S, Koenig, M & Pandolfo, M 1996, 'Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion', Science, vol. 271, no. 5254, pp. 1423-1427.

Campuzano, Victoria ; Montermini, Laura ; Moltò, Maria Dolores ; Pianese, Luigi ; Cossée, Mireille ; Cavalcanti, Francesca ; Monros, Eugenia ; Rodius, François ; Duclos, Franck ; Monticelli, Antonella ; Zara, Federico ; Cañizares, Joaquin ; Koutnikova, Hana ; Bidichandani, Sanjay I. ; Gellera, Cinzia ; Brice, Alexis ; Trouillas, Paul ; De Michele, Giuseppe ; Filla, Alessandro ; De Frutos, Rosa ; Palau, Francisco ; Patel, Pragna I. ; Di Donato, Stefano ; Mandel, Jean Louis ; Cocozza, Sergio ; Koenig, Michel ; Pandolfo, Massimo. / Friedreich's ataxia : Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. In: Science. 1996 ; Vol. 271, No. 5254. pp. 1423-1427.

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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.",

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AU - Pianese, Luigi

AU - Cossée, Mireille

AU - Cavalcanti, Francesca

AU - Monros, Eugenia

AU - Rodius, François

AU - Duclos, Franck

AU - Monticelli, Antonella

AU - Zara, Federico

AU - Cañizares, Joaquin

AU - Koutnikova, Hana

AU - Bidichandani, Sanjay I.

AU - Gellera, Cinzia

AU - Brice, Alexis

AU - Trouillas, Paul

AU - De Michele, Giuseppe

AU - Filla, Alessandro

AU - De Frutos, Rosa

AU - Palau, Francisco

AU - Patel, Pragna I.

AU - Di Donato, Stefano

AU - Mandel, Jean Louis

AU - Cocozza, Sergio

AU - Koenig, Michel

AU - Pandolfo, Massimo

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

Abstract

ASJC Scopus subject areas

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