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

被引：2266

作者：

Campuzano, V

Montermini, L

Molto, MD

Pianese, L

Cossee, M

Cavalcanti, F

Monros, E

Rodius, F

Duclos, F

Monticelli, A

Zara, F

Canizares, J

Koutnikova, H

Bidichandani, SI

Gellera, C

Brice, A

Trouillas, P

DeMichele, G

Filla, A

DeFrutos, R

Palau, F

Patel, PI

DiDonato, S

Mandel, JL

Cocozza, S

Koenig, M

Pandolfo, M

机构：

[1] UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

[2] CNRS,F-67404 ILLKIRCH GRAFFENS,FRANCE

[3] CHU,F-67404 ILLKIRCH GRAFFENS,FRANCE

[4] BAYLOR COLL MED,DEPT NEUROL,HOUSTON,TX 77030

[5] UNIV NAPLES FEDERICO II,DIPARTIMENTO BIOL & PATOL CELLULARE & MOLEC,I-80131 NAPLES,ITALY

[6] CNR,CTR ENDOCRINOL ONCOL SPERIMENTALE,I-80131 NAPLES,ITALY

[7] IST MEDITERRANEO NEUROSCI SANATRIX,I-86077 POZZILLI,ISERNIA,ITALY

[8] UNIV HOSP LA FE,UNIDAD GENET,E-46006 VALENCIA,SPAIN

[9] UNIV VALENCIA,DEPT GENET,E-46100 BURJASSOT,VALENCIA,SPAIN

[10] IST NAZL NEUROL C BESTA,DIV BIOCHIM & GENET SISTEMA NERVOSO,I-20133 MILAN,ITALY

[11] HOP LA PITIE SALPETRIERE,F-75651 PARIS 13,FRANCE

[12] HOP NEUROL,F-69003 LYON,FRANCE

[13] UNIV NAPLES FEDERICO II,DIV NEUROL 2,DIPARTIMENTO PATOL SISTEMA,I-80131 NAPLES,ITALY

来源：

SCIENCE | 1996年 / 271卷 / 5254期

关键词：

D O I：

10.1126/science.271.5254.1423

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页码：1423 / 1427

页数：5

共 49 条

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