Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Different phenotypes of Friedreich's ataxia within one 'pseudo-dominant' genealogy: relationships between trinucleotide (GAA) repeat lengths and clinical features.

European journal of neurology - 1 Sept 2000

Illarioshkin S N, Bagieva G K, Klyushnikov S A, Ovchinnikov I V, Markova E D, Ivanova-Smolenskaya I A

Abstract excerpt

We examined a large Turkmen family with 'pseudo-dominant' inheritance of Friedreich's ataxia resulting from consanguineous marriage of a Friedreich's ataxia patient to a heterozygote carrying an ancestral mutated allele. Two distinct phenotypes of the disease co-segregated within this genealogy. Two brothers from the younger generation exhibited 'classical' Friedreich's ataxia with onset of symptoms before 10...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Friedreich Ataxia

Share to Genes, Dominant

Share to Pedigree

Share to Trinucleotide Repeats

Share to Turkey

Source

Identifiers

PMID: 11054139
DOI: 10.1046/j.1468-1331.2000.t01-1-00113.x

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Different phenotypes of Friedreich's ataxia within one 'pseudo-dominant' genealogy: relationships between trinucleotide (GAA) repeat lengths and clinical features.PMID 11054139Read ↗

A family with pseudodominant Friedreich's ataxia showing marked variation of phenotype between affected siblings.Semantic proximity Read ↗

Delayed-onset Friedreich's ataxia revisited.Semantic proximity Read ↗

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

Pseudodominant Friedreich's ataxia with phenotypic heterogeneity.Semantic proximity Read ↗

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

Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia familiesSemantic 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 ↗

The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated populationSemantic proximity Read ↗

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

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

Markedly different course of Friedreich's ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.