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 journalArticle

1980 Citations (Scopus)

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 languageEnglish
Pages (from-to)1423-1427
Number of pages5
JournalScience
Volume271
Issue number5254
Publication statusPublished - Mar 8 1996

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Friedreich Ataxia
Trinucleotide Repeats
Central Nervous System Diseases
Caenorhabditis elegans
Peripheral Nervous System Diseases
Point Mutation
Introns
Genes
Chromosomes
Yeasts
Amino Acids
Proteins

ASJC Scopus subject areas

  • General

Cite this

Campuzano, V., Montermini, L., Moltò, M. D., Pianese, L., Cossée, M., Cavalcanti, F., ... 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 journalArticle

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 V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F et al. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996 Mar 8;271(5254):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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AU - Moltò, Maria Dolores

AU - Pianese, Luigi

AU - Cossée, Mireille

AU - Cavalcanti, Francesca

AU - Monros, Eugenia

AU - Rodius, François

AU - Duclos, Franck

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AU - Cañizares, Joaquin

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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

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AU - Cocozza, Sergio

AU - Koenig, Michel

AU - Pandolfo, Massimo

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