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

Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.

European journal of human genetics : EJHG - 1 Jul 2024

Ruiz de Sabando Ainara, Ciosi Marc, Galbete Arkaitz, Cumming Sarah A, Monckton Darren G, Ramos-Arroyo Maria A

Abstract excerpt

Huntington disease (HD) is a neurodegenerative disorder caused by ≥36 CAGs in the HTT gene. Intermediate alleles (IAs) (27-35 CAGs) are not considered HD-causing, but their potential association with neurocognitive symptoms remains controversial. As HTT somatic CAG expansion influences HD onset, we hypothesised that IAs are somatically unstable, and that somatic CAG expansion may drive phenotypic presentation in...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Alleles

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Heterozygote

Share to Huntingtin Protein

Share to Huntington Disease

Share to Phenotype

Share to Trinucleotide Repeat Expansion

Source

Open in PubMed Open full text

Identifiers

PMID: 38433266
DOI: 10.1038/s41431-024-01546-6
PMCID: PMC11220145

Genes

HTT

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.PMID 38433266Read ↗

Propensity for somatic expansion increases over the course of life in Huntington disease.Semantic proximity Read ↗

Loss of interruption in the <i>HTT</i> CAG repeat is associated with increased somatic expansion and loss of medium spiny neurons in HDSemantic proximity Read ↗

The frequency and clinical impact of synonymous HTT loss-of-interruption and duplication-of-interruption variants in a diverse HD cohortSemantic proximity Read ↗

Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington’s disease decades before clinical motor diagnosisSemantic proximity Read ↗

Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease reveal shared and tissue-specific effectsSemantic proximity Read ↗

Is There Convincing Evidence that Intermediate Repeats in the HTT Gene Cause Huntington's Disease?Semantic proximity Read ↗

CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease.Semantic proximity Read ↗

Evidence‐based genetic counselling implications for Huntington disease intermediate allele predictive test resultsSemantic proximity Read ↗

When repetita no-longer iuvant: somatic instability of the CAG triplet in Huntington’s diseaseSemantic proximity Read ↗

Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.Semantic proximity Read ↗

Allelic Diversity, de novo CAG Expansions, and Intergenerational Instability at the HTT Locus in a clinical sample of Huntington’s Disease from IndiaSemantic proximity Read ↗

REVIEW-ARTICLE Intermediate alleles of Huntington's disease HTT gene in different populations worldwide: a systematic review.Semantic proximity Read ↗

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