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Science 8 March 1996:
Vol. 271. no. 5254, pp. 1423 - 1427
DOI: 10.1126/science.271.5254.1423
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Reports

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Victoria Campuzano, * Laura Montermini, * Maria Dolores Moltò, dagger Luigi Pianese, Mireille Cossée, Francesca Cavalcanti, ddagger 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 (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.

V. Campuzano, M. Cossée, F. Rodius, F. Duclos, H. Koutnikova, J.-L. Mandel, M. Koenig, Institut de Génétique et Biologie Moléculaire et Cellulaire (IGBMC), INSERM, Université Louis Pasteur, CNRS, and Centre Hospitalier Universitaire, 1 Rue Laurent Fries, BP 163, 67404 Illkirch Cedex - Strasbourg, France.
L. Montermini, M. D. Moltò, F. Zara, S. Bidichandani, P. I. Patel, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
L. Pianese, A. Monticelli, S. Cocozza, Dipartimento di Biologia e Patologia Cellulare e Molecolare, University of Naples Federico II, and Centro Endocrinologia Oncologia Sperimentale Consiglio Nazionale delle Ricerche, Via Pansini 5, 80131 Naples, Italy.
F. Cavalcanti, Istituto Mediterraneo di Neuroscienze ``Sanatrix,'' 86077 Pozzilli (Isernia), Italy.
E. Monros and F. Palau, Unidad de Genetica, Hospital Universitari La Fe, Avenida Campanar 21, 46006 Valencia, Spain.
J. Cañizares and R. De Frutos, Department de Genetica, University of Valencia, C/ Dr. Moliner 50, 46100 Burjassot (Valencia), Spain.
C. Gellera and S. Di Donato, Divisione di Biochimica e Genetica del Sistema Nervoso, Istituto Nazionale Neurologico ``C. Besta,'' Via Celoria 11, 20133 Milan, Italy.
A. Brice, Hôpital de la Salpetriere, 47 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.
P. Trouillas, Hôpital Neurologique, Pier Wertheimer, 69003 Lyon, France.
G. De Michele and A. Filla, Dipartimento di Patologia Sistematica, Divisione di Neurologia II, University of Naples Federico II, Via Pansini 5, 80131 Naples, Italy.
M. Pandolfo, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA, and Divisione di Biochimica e Genetica del Sistema Nervoso, Istituto Nazionale Neurologico ``C. Besta,'' Via Celoria 11, 20133 Milan, Italy.
* These authors equally contributed to this work.
dagger Permanent address: Departament de Genetica, Univer-sity of Valencia, C/ Dr. Moliner 50, 46100 Burjassot (Valencia), Spain.
ddagger Present address: Dipartimento di Biologia e Patologia Cellulare e Molecolare, University of Naples Federico II, and Centro Endocrinologia Oncologia Sperimentale Consiglio Nazionale delle Ricerche, Via Pansini 5, 80131 Naples, Italy.
§ Present address: Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa College of Medicine, 400 Eckstein Medical Research Building, Iowa City, IA 52242, USA.
| To whom correspondence should be addressed.


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Familial Cognitive Impairment With Ataxia With Oculomotor Apraxia.
M. Mahajnah, L. Basel-Vanagaite, D. Inbar, L. Kornreich, R. Weitz, and R. Straussberg (2005)
J Child Neurol 20, 523-525
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Frataxin and Mitochondrial Carrier Proteins, Mrs3p and Mrs4p, Cooperate in Providing Iron for Heme Synthesis.
Y. Zhang, E. R. Lyver, S. A. B. Knight, E. Lesuisse, and A. Dancis (2005)
J. Biol. Chem. 280, 19794-19807
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Blood 105, 1867-1874
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Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia.
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Triplet Repeat Primed PCR (TP PCR) in Molecular Diagnostic Testing for Friedreich Ataxia.
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J. Med. Genet. 41, 858-866
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Trinucleotide repeats and neurodegenerative disease.
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Brain 127, 2385-2405
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Mitochondrial disorders.
M. Zeviani and S. Di Donato (2004)
Brain 127, 2153-2172
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Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers.
L Pianese, M Turano, M S Lo Casale, I De Biase, M Giacchetti, A Monticelli, C Criscuolo, A Filla, and S Cocozza (2004)
J. Neurol. Neurosurg. Psychiatry 75, 1061-1063
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Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia.
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Hum. Mol. Genet. 13, 1017-1024
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Friedreich's ataxia.
J M S Pearce (2004)
J. Neurol. Neurosurg. Psychiatry 75, 688
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J. Mol. Diagn. 6, 96-100
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M Giacchetti, A Monticelli, I De Biase, L Pianese, M Turano, A Filla, G De Michele, and S Cocozza (2004)
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Length-dependent structure formation in Friedreich ataxia (GAA)n{middle dot}(TTC)n repeats at neutral pH.
V. N. Potaman, E. A. Oussatcheva, Y. L. Lyubchenko, L. S. Shlyakhtenko, S. I. Bidichandani, T. Ashizawa, and R. R. Sinden (2004)
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Structure-dependent Recombination Hot Spot Activity of GAA{middle dot}TTC Sequences from Intron 1 of the Friedreich's Ataxia Gene.
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K. Burk, C. Globas, T. Wahl, U. Buhring, K. Dietz, C. Zuhlke, A. Luft, J. B. Schulz, K. Voigt, and J. Dichgans (2004)
Brain 127, 175-181
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Genetic Features of Mitochondrial Respiratory Chain Disorders.
A. Rotig and A. Munnich (2003)
J. Am. Soc. Nephrol. 14, 2995-3007
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Clinical and Neuroradiological Features of Patients With Spinocerebellar Ataxias From Korean Kindreds.
O. Y. Bang, K. Huh, P. H. Lee, and H. J. Kim (2003)
Arch Neurol 60, 1566-1574
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Pathophysiology of the Optic Neuropathy Associated With Friedreich Ataxia.
C. D. Alldredge, C. R. Schlieve, N. R. Miller, and L. A. Levin (2003)
Arch Ophthalmol 121, 1582-1585