ArticleTremor and other hyperkinetic movements (New York, N.Y.)2012
Intermediate CAG Repeats in Huntington's Disease: Analysis of COHORT.
Article in Tremor and other hyperkinetic movements (New York, N.Y.), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 40 citations in OpenAlex.
- The clinical phenotype of carriers of intermediate alleles in the huntingtin gene: A scoping review.Journal of Huntington's disease · 2026Review
- 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
- Contribution of Glial Cells to Polyglutamine Diseases: Observations from Patients and Mouse Models.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2023Review
- The enduring enigma of sporadic chorea: A single center case series.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Article
- High frequency of intermediary alleles in the HTT gene in Northern Sweden - The Swedish Huntingtin Alleles and Phenotype (SHAPE) study.Scientific reports · 2020Article
- Case report and literature review of Huntington disease with intermediate CAG expansion.BMJ neurology open · 2020Article
- Parkinsonism with a Hint of Huntington's from 29 CAG Repeats in HTT.Brain sciences · 2019Article
- Dynamic functional network connectivity in Huntington's disease and its associations with motor and cognitive measures.Human brain mapping · 2019Article
- Progressive Polyglutamine Repeat Expansion in Peripheral Blood Cells and Sperm of Transgenic Huntington's Disease Monkeys.Journal of Huntington's disease · 2019Article
- Genetic Counseling in Huntington's Disease: Potential New Challenges on Horizon?Frontiers in neurology · 2019Article
- The Role of Microglia and Astrocytes in Huntington's Disease.Frontiers in molecular neuroscience · 2019Article
- A reference haplotype panel for genome-wide imputation of short tandem repeats.Nature communications · 2018Article
- What do we know about Late Onset Huntington's Disease?Journal of Huntington's disease · 2017Review
- Phenotype Characterization of HD Intermediate Alleles in PREDICT-HD.Journal of Huntington's disease · 2016Article
- Longitudinal Psychiatric Symptoms in Prodromal Huntington's Disease: A Decade of Data.The American journal of psychiatry · 2016Article
- Factors influencing the clinical expression of intermediate CAG repeat length mutations of the Huntington's disease gene.Journal of neurology · 2015Observational
- Prospects for neuroprotective therapies in prodromal Huntington's disease.Movement disorders : official journal of the Movement Disorder Society · 2014Review
- Striatal parvalbuminergic neurons are lost in Huntington's disease: implications for dystonia.Movement disorders : official journal of the Movement Disorder Society · 2013Article
- Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS.Neurology · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThere is emerging evidence that clinical and neuro-pathological manifestations of Huntington's disease (HD) may occur in individuals with intermediate length cytosine-adenine-guanine (CAG) repeats (27-35 CAG repeats) in the Huntingtin (HTT) gene. We aim to further define the clinical characteristics of individuals who possess CAG repeat lengths in this range.
methodsData from the Cooperative Huntington's Observational Research Trial (COHORT) were analyzed. Participants were categorized according to the number of CAG repeats into normal (≤26), intermediate (27-35) and HD (≥36) groups. The motor, cognitive and behavioral scores on the Unified Huntington's Disease Rating Scale (UHDRS) were compared between the intermediate and normal groups.
resultsOf 1985 individuals affected by HD or with a family history of HD who were genotyped, 50 (2.5%) had their larger CAG repeat in the intermediate range. There were statistically significant differences in scores of some motor, cognitive, and behavioral domains of UHDRS at baseline between normal and intermediate length CAG repeats. Furthermore, a significantly greater number of subjects with CAG repeats in the intermediate range reported at least one suicide attempt compared to the normal group. DISCUSSION: Our findings of motor, cognitive and behavioral abnormalities in individuals with intermediate CAG repeats suggest the presence of subtle, but relevant, disease manifestations in patients with intermediate CAG repeats. These results have important implications for the pathogenesis of the disease and genetic counseling.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.