ArticleNeurology2013
Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS.
Article in Neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Current knowledge of Huntington's disease-like 2 genetic testing, clinical presentation, and patient experiences: A systematic review.Journal of Huntington's disease · 2026Pooled it
- Toward the clinical application of long-read sequencing in repeat-expansion disorders.Nature genetics · 2026Review
- Exploring the association between antidepressants, progression and mortality in Huntington's disease.Brain : a journal of neurology · 2026Article
- The clinical phenotype of carriers of intermediate alleles in the huntingtin gene: A scoping review.Journal of Huntington's disease · 2026Review
- AI-Enhanced Transcriptomic Discovery of Druggable Targets and Repurposed Therapies for Huntington's Disease.Brain sciences · 2025Review
- Huntingtin CAG repeat size variations below the Huntington's disease threshold: associations with depression, anxiety and basal ganglia structure.European journal of human genetics : EJHG · 2025Article
- Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions.Human molecular genetics · 2024Article
- 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 · 2024Article
- Neuroinflammation and the role of epigenetic-based therapies for Huntington's disease management: the new paradigm.Inflammopharmacology · 2024Review
- Article
- The Use of Stem Cells as a Potential Treatment Method for Selected Neurodegenerative Diseases: Review.Cellular and molecular neurobiology · 2023Review
- Different depression: motivational anhedonia governs antidepressant efficacy in Huntington's disease.Brain communications · 2022Article
- CAG Repeats Within the Non-pathological Range in the HTT Gene Influence Personality Traits in Patients With Subjective Cognitive Decline: A 13-Year Follow-Up Study.Frontiers in psychiatry · 2022Article
- The Effect of CAG Repeats within the Non-Pathological Range in the HTT Gene on Cognitive Functions in Patients with Subjective Cognitive Decline and Mild Cognitive Impairment.Diagnostics (Basel, Switzerland) · 2021Article
- High frequency of intermediary alleles in the HTT gene in Northern Sweden - The Swedish Huntingtin Alleles and Phenotype (SHAPE) study.Scientific reports · 2020Article
- Investigation of intermediate CAG alleles of the HTT in the general population of Rio de Janeiro, Brazil, in comparison with a sample of Huntington disease-affected families.Molecular genetics & genomic medicine · 2020Article
- Quality Control in Huntington's Disease: a Therapeutic Target.Neurotoxicity research · 2019Review
- Parkinsonism with a Hint of Huntington's from 29 CAG Repeats in HTT.Brain sciences · 2019Article
- Phenotype-genotype discrepancies in the prospective Huntington at-risk observational study.Annals of clinical and translational neurology · 2019Observational
- Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease-Associated Alleles Among Large Population-Based Cohorts.JAMA neurology · 2019Observational
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8 authors.
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Abstract
objectivesWe aimed to describe the clinical phenotype conferred by the intermediate-length huntingtin allele CAG repeat expansion in a population-based study.
methodsThe Prospective Huntington At Risk Observational Study (PHAROS) enrolled adults at risk for Huntington disease (HD). They were assessed approximately every 9 months with the Unified Huntington's Disease Rating Scale (UHDRS) by investigators unaware of participants' gene status. UHDRS scores were compared according to the Huntingtin gene CAG repeat number: expanded >36, intermediate 27-35, and nonexpanded controls <26.
resultsFifty (5.1%) of the 983 participants had an intermediate allele (IA). They were similar to controls on UHDRS motor, cognitive, and functional measures, but significantly worse behaviorally on apathy and suicidal ideation. On 5 of the 9 other behavioral items and on total behavior, the IA group's scores were worse than those of controls and expanded participants, who themselves scored significantly worse than controls on 6 behavioral measures. Retention rates at 4 years were 48% for the IA group compared to 58% and 60% for the expanded and control groups.
conclusionsIn a cohort at risk for HD, the IA was associated with significant behavioral abnormalities but normal motor and cognition. This behavioral phenotype may represent a prodromal stage of HD, with the potential for subsequent clinical manifestations, or be part of a distinct phenotype conferred by pathology independent of the CAG expansion length.
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