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PMID: 8596916 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

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

Science (New York, N.Y.) ·Vol. 271 ·No. 5254 ·1996-03-08 ·Pages 1423-7

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

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. 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.

MeSH Terms

Alleles Amino Acid Sequence Base Sequence Chromosomes, Human, Pair 9/genetics DNA Primers Female Friedreich Ataxia/genetics Genes, Recessive Heterozygote Humans Introns Iron-Binding Proteins Male Molecular Sequence Data Pedigree Point Mutation Polymerase Chain Reaction Proteins/chemistry,genetics Sequence Alignment Trinucleotide Repeats

Chemicals

DNA Primers Iron-Binding Proteins Proteins frataxin

Authors & Affiliations

27 authors, click to expand affiliations / ORCID

Campuzano V

Department de Genetica, University of Valencia, Spain.

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

De Frutos R

Palau F

Patel P I

Di Donato S

Mandel J L

Cocozza S

Koenig M

Pandolfo M

Article Info

Journal

Science (New York, N.Y.)

Abbr.

Science

ISSN

0036-8075

DOI

10.1126/science.271.5254.1423

Published

1996-03-08

Pages

1423-7

Language

English

Region

United States

NLM ID

0404511

Subset

Grants

Telethon · 722 · Italy

NINDS NIH HHS · NS34192 · United States

Databases

GENBANK

U43747, U43748, U43749, U43750, U43751, U43752, U43753

Corrections

CommentIn

PMID: 8596908

External Links

PubMed source DOI: 10.1126/science.271.5254.1423 View journal details

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

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