Published 1996 | Version v1
Publication Metadata-only

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.
Others:
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.

Description

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.

Additional details

Identifiers Origin repository
Created:
April 14, 2023
Modified:
December 1, 2023