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Article

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.

American journal of human genetics - 1 Sept 1996

Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S

Abstract excerpt

Friedreich ataxia (FA) is associated with the expansion of a GAA trinucleotide repeat in the first intron of the X25 gene. We found both alleles expanded in 67 FA patients from 48 Italian families. Five patients from three families were compound heterozygotes with expansion on one allele and an isoleucine-->phenylalanine change at position 154 on the other one. We found neither expansions nor point mutations in...

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Identifiers

PMID: 8751856
PMCID: PMC1914893

Genes

GAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.PMID 8751856Read ↗

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat.Semantic proximity Read ↗

Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions.Semantic proximity Read ↗

Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates.Semantic proximity Read ↗

Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia.Semantic proximity Read ↗

Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia.Semantic proximity Read ↗

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.Semantic proximity Read ↗

The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.Semantic proximity Read ↗

Expanded GAA repeats and clinical variation in Friedreich's ataxia.Semantic proximity Read ↗

Somatic instability of the expanded GAA repeats in Friedreich’s ataxiaSemantic proximity Read ↗

Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very RareSemantic proximity Read ↗

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion.Semantic proximity Read ↗

Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene.Semantic proximity Read ↗

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