ArticleNeurology2026
Sequence Variants in Small CAG Repeat Expansions of the
Article in Neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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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
2 citing papers in PubMed.
- Clinical implications of loss of interruption variants for diagnosis, genetic counselling, and clinical trials in Huntington's disease.Journal of Huntington's disease · 2026Review
- Oligodendrocyte dysfunction in neurodegenerative diseases: pathological features, underlying mechanisms and therapeutic targeting.Frontiers in aging neuroscience · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesHuntington disease is an autosomal dominant neurologic disorder caused by an unstable cytosine-adenine-guanine (CAG) expansion (>35 CAG) in the
methodsWe included carriers with uninterrupted CAG
resultsWe analyzed 328 carriers with uninterrupted CAG DISCUSSION: In this large cohort, including DNA sequence and phenotypical data, the LOI variant showed a significant modifying effect on AO, motor, and cognitive disease progression. These findings, along with the identification of a novel variant, have important implications for genetic testing and counseling, especially for individuals with expansions close to cutoff ranges. In addition, they underscore the need to integrate the DNA sequence in the diagnostic process and revisit current onset prediction models.
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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.