Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Victoria Campuzano
(1)
,
Laura Montermini
(2)
,
Maria Dolores Molto
(2)
,
Luigi Pianese
(3)
,
Mireille Cossée
(1)
,
Francesca Cavalcanti
(4)
,
Eugenia Monros
(5)
,
François Rodius
(1)
,
Franck Duclos
(1)
,
Antonella Monticelli
(3)
,
Federico Zara
(2)
,
Joaquin Canizares
(6)
,
Hana Koutnikova
(1)
,
Sanjay I. Bidichandani
(2)
,
Cinzia Gellera
(7)
,
Alexis Brice
(8)
,
Paul Trouillas
(9)
,
Guiseppe de Michele
(10)
,
Alessandro Filla
(10)
,
Rosa de Frutos
(6)
,
Francisco Palau
(5)
,
Pragna I Patel
(2)
,
Stefano Di Donato
(7)
,
Jean Louis Mandel
(1)
,
Sergio Cocozza
(3)
,
Michel Koenig
(1)
,
Massimo Pandolfo
(2)
1
IGBMC -
Institut de Génétique et de Biologie Moléculaire et Cellulaire
2 Baylor College of Medecine
3 Dipartimento di Biologia e Patologia Cellulare e Moleculare
4 NEUROMED I.R.C.C.S. - Istituto Neurologico Mediterraneo
5 Hospital Universitari i Politècnic La Fe = University and Polytechnic Hospital La Fe
6 UV - Universitat de València = University of Valencia
7 Instituto Neurologico C. Besta
8 CHU Pitié-Salpêtrière [AP-HP]
9 Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL]
10 University of Naples Federico II = Università degli studi di Napoli Federico II
2 Baylor College of Medecine
3 Dipartimento di Biologia e Patologia Cellulare e Moleculare
4 NEUROMED I.R.C.C.S. - Istituto Neurologico Mediterraneo
5 Hospital Universitari i Politècnic La Fe = University and Polytechnic Hospital La Fe
6 UV - Universitat de València = University of Valencia
7 Instituto Neurologico C. Besta
8 CHU Pitié-Salpêtrière [AP-HP]
9 Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL]
10 University of Naples Federico II = Università degli studi di Napoli Federico II
Mireille Cossée
- Fonction : Auteur
- PersonId : 1034827
François Rodius
- Fonction : Auteur
- PersonId : 744551
- IdHAL : francois-rodius
- IdRef : 140884203
Alexis Brice
- Fonction : Auteur
- PersonId : 1104774
- ORCID : 0000-0002-0941-3990
- IdRef : 050512935
Michel Koenig
- Fonction : Auteur
- PersonId : 975748
Résumé
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.