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

doi:10.1093/brain/120.4.673

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Article

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

Brain : a journal of neurology - 1 Apr 1997

Lamont P J, Davis M B, Wood N W

Abstract excerpt

Fifty-six patients with a clinical diagnosis of Friedreich's ataxia were investigated for the GAA trinucleotide repeat expansion recently found within the gene X25 on chromosome 9. All 56 were found to be homozygous for the expansion, with all but two patients having alleles of differing sizes. T...

Topics

Adolescent
Adult
Age of Onset
Alleles
Child
Child, Preschool
Chromosomes, Human, Pair 9
Friedreich Ataxia
Genes
Heterozygote
Homozygote
Humans
Infant
Middle Aged
Pedigree
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid

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Open in PubMed

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PMID: 9153129
DOI: 10.1093/brain/120.4.673

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Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9153129-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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