Cell-specific transcription dysregulation in human Huntington's disease-positive developing striatum

Clicks: 1
ID: 338779
2026
Free PDF
Article Quality & Performance Metrics
Overall Quality
Not rated
Combines reader engagement with the AI quality analysis. This article has not been analysed, so there is no overall score — reader engagement is measured and shown alongside.
AI Quality Assessment
Not analyzed
Readership in this journal

Ranked #457 of 457 articles by views in Brain research

Most read Least read

Bar heights use a square-root scale. Only the 120 most-read articles are drawn; the journal has 457 in total.

Mint this article as an NFT
Not yet minted

Create a permanent, verifiable on-chain record of this article on the Scimatic Network. The NFT is held in your Journament account, and you can withdraw it to your own wallet at any time.

5 SUSD one-off · no wallet required
Sign in to mint
Abstract
Huntington's disease (HD) is a neurodegenerative disorder caused by a CAG-repeat expansion in the HTT gene. Progressive loss of striatal projection neurons leads to cognitive, psychiatric, and motor impairments that typically manifest in midlife, despite the expansion being present from conception. Increasing evidence supports a neurodevelopmental component to HD; however, authentic human developing HD-positive striatal tissue has not previously been characterised. We used single-cell RNA sequencing to compare an HD-positive human fetal striatal sample to an age- and sex-matched control, with CAG-repeat lengths of 16, 49 and 16, 17 respectively. We also compared the fetal HD-positive transcriptional signature with publicly available datasets from postmortem adult HD-positive brain tissue. We identified 2,032 differentially expressed genes and defined nine cellular clusters.. Gene enrichment analysis revealed alteration of key biological processes across the developing HD-positive striatum, with pathway-level dysregulation varying between clusters. There was substantial overlap in gene expression changes between fetal and adult HD-positive striatal tissues, although not in all transcriptional profiles, and some were reversed. Together, these findings demonstrate that molecular features of HD pathology are present during early human striatal development, supporting the concept that disease mechanisms are established decades prior to clinical onset.
Reference Key
openalex_W7165482733 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Sophie V. Precious, Oliver J.M. Bartley, Phoebe Linehan, Alys N Aston, Rachel Hills, Anne-Marie McGorrian, Vincent Dion, Anne Rosser
Are you one of these authors? Claim your profile
Journal Brain research
Year 2026
DOI
10.1093/brain/awag374
URL
https://doi.org/10.1093/brain/awag374
Keywords Keywords not found

Citations

No citations found. To add a citation, contact the admin at info@scimatic.org

Comments

No comments yet. Be the first to comment on this article.