Temporal single-cell atlas of full-length Huntington’s disease mouse model defines stage-specific signatures of corticostriatal dysfunction

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Authors: Ashley B. Robbins, Paul T. Ranum, Icnelia Huerta-Ocampo, Michael Kuckyr, Beverly L. Davidson
Cited by: 0
References: 99

Abstract

Huntington's disease involves progressive corticostriatal dysfunction; however, the timing of region-specific transcriptional changes remains unresolved at cellular resolution. Here, we provide a temporal single-nucleus transcriptomic atlas of striatum and motor cortex from zQ175 knock-in mice at 6 and 18 months. This full-length Huntingtin model enables staging of progressive circuit dysfunction. Striatal projection neurons show extensive early dysregulation with progressive striosomal identity erosion, whereas cortical pyramidal neuron dysfunction was layer-specific and coincided with motor symptom onset. By modeling genotype-dependent effects, we distinguish region- and cell type-specific signatures of core disease mechanisms from age-related changes and compensatory adaptations. Integrating gene co-expression and transcription factor regulatory networks, we predict candidate regulators of stage-specific dysfunction. These findings, validated across human HD and mouse model datasets, reveal temporal dynamics of disease pathogenesis in regionally distinct and interconnected neuronal populations, establishing a framework for understanding cell type-selective vulnerability.

Fields of Study & Subjects

Genetic Neurodegenerative Diseases Single-cell and spatial transcriptomics Neurological disorders and treatments

Publication details

Journal / source
bioRxiv (Cold Spring Harbor Laboratory)
Publication date
8 January 2026
Language
EN
Document type
Preprint