ArticleNeurobiology of disease2017
Forebrain knock-out of torsinA reduces striatal free-water and impairs whole-brain functional connectivity in a symptomatic mouse model of DYT1 dystonia.
Article in Neurobiology of disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Structural magnetic resonance imaging in dystonia: A systematic review of methodological approaches and findings.European journal of neurology · 2022Pooled it
- Altered Functional Brain Connectivity in Dyt1 Knock-in mouse models.Dystonia (Lausanne, Switzerland) · 2025Article
- Subtle changes in Purkinje cell firing in Purkinje cell-specificDystonia (Lausanne, Switzerland) · 2025Article
- Cell-specific Dyt1 ∆GAG knock-in to basal ganglia and cerebellum reveal differential effects on motor behavior and sensorimotor network function.Experimental neurology · 2023Article
- Cerebellar Dysfunction as a Source of Dystonic Phenotypes in Mice.Cerebellum (London, England) · 2023Article
- Pathophysiology of Dyt1-Science translational medicine · 2023Article
- Motor deficit and lack of overt dystonia in Dlx conditional Dyt1 knockout mice.Behavioural brain research · 2023Article
- DYT-Frontiers in neuroscience · 2023Review
- A dystonia mouse model with motor and sequencing deficits paralleling human disease.Behavioural brain research · 2022Article
- Cell-specific effects of Dyt1 knock-out on sensory processing, network-level connectivity, and motor deficits.Experimental neurology · 2021Article
- The HIV protease inhibitor, ritonavir, corrects diverse brain phenotypes across development in mouse model of DYT-TOR1A dystonia.Science translational medicine · 2021Article
- Neural endophenotypes and predictors of laryngeal dystonia penetrance and manifestation.Neurobiology of disease · 2021Article
- The Role of Torsin AAA+ Proteins in Preserving Nuclear Envelope Integrity and Safeguarding Against Disease.Biomolecules · 2020Review
- Decreased number of striatal cholinergic interneurons and motor deficits in dopamine receptor 2-expressing-cell-specific Dyt1 conditional knockout mice.Neurobiology of disease · 2020Article
- Diffusion magnetic resonance imaging-derived free water detects neurodegenerative pattern induced by interferon-γ.Brain structure & function · 2020Article
- Neuroimaging Applications in Dystonia.International review of neurobiology · 2018Review
- Altered Forebrain Functional Connectivity and Neurotransmission in a Kinase-Inactive Met Mouse Model of Autism.Molecular imagingArticle
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Multiple lines of evidence implicate striatal dysfunction in the pathogenesis of dystonia, including in DYT1, a common inherited form of the disease. The impact of striatal dysfunction on connected motor circuits and their interaction with other brain regions is poorly understood. Conditional knock-out (cKO) of the DYT1 protein torsinA from forebrain cholinergic and GABAergic neurons creates a symptomatic model that recapitulates many characteristics of DYT1 dystonia, including the developmental onset of overt twisting movements that are responsive to antimuscarinic drugs. We performed diffusion MRI and resting-state functional MRI on cKO mice of either sex to define abnormalities of diffusivity and functional connectivity in cortical, subcortical, and cerebellar networks. The striatum was the only region to exhibit an abnormality of diffusivity, indicating a selective microstructural deficit in cKO mice. The striatum of cKO mice exhibited widespread increases in functional connectivity with somatosensory cortex, thalamus, vermis, cerebellar cortex and nuclei, and brainstem. The current study provides the first in vivo support that direct pathological insult to forebrain torsinA in a symptomatic mouse model of DYT1 dystonia can engage genetically normal hindbrain regions into an aberrant connectivity network. These findings have important implications for the assignment of a causative region in CNS disease.
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