ArticleProceedings of the National Academy of Sciences of the United States of America2020
A microstructural neural network biomarker for dystonia diagnosis identified by a DystoniaNet deep learning platform.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03042962 (Brain Networks in Dystonia), which is not on this map. Cited by 33 papers.
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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.
Brain Networks in Dystonia
Who cites it
33 citing papers in PubMed, 49 citations in OpenAlex.
- Brain-Computer Interface Improves Symptoms of Isolated Focal Laryngeal Dystonia: A Single-Blind Study.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Abnormal head movements in neurological conditions: a knowledge-based dataset with application to cervical dystonia.Frontiers in digital health · 2026Article
- Applications of Artificial Intelligence in Neurological Voice Disorders.World journal of otorhinolaryngology - head and neck surgery · 2025Review
- Spasmodic Dysphonia.World journal of otorhinolaryngology - head and neck surgery · 2025Review
- Somato-Cognitive Action Network in Focal Dystonia.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- The Changing Face of Dystonia-Enhancing Diagnosis by Moving Beyond Traditional Clinical Phenotyping.Movement disorders clinical practice · 2025Article
- Trends, Hotspots, and Future Directions of Research on Pain in Dystonia: A Bibliometric Analysis.Brain and behavior · 2025Article
- Neck and mind: exploring emotion processing in cervical dystonia.Frontiers in neuroscience · 2025Article
- Multidimensional structural analyses revealed a correlation between thalamic atrophy and white matter degeneration in idiopathic dystonia.Brain communications · 2025Article
- Brain network pathophysiology in dystonia.Dystonia (Lausanne, Switzerland) · 2025Article
- Artificial Intelligence in the Diagnosis and Quantitative Phenotyping of Hyperkinetic Movement Disorders: A Systematic Review.Journal of clinical medicine · 2024Review
- White Matter Microstructural Changes Using Ultra-Strong Diffusion Gradient MRI in Adult-Onset Idiopathic Focal Cervical Dystonia.Neurology · 2024Article
- Demographic and clinical characteristics of our patients diagnosed with laryngeal dystonia.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2024Article
- Blood-Based Proteomics for Adult-Onset Focal Dystonias.Annals of neurology · 2024Article
- Macro- and micro-structural insights into primary dystonia: a UK Biobank study.Journal of neurology · 2024Article
- Article
- Temporal Signature of Task-Specificity in Isolated Focal Laryngeal Dystonia.Movement disorders : official journal of the Movement Disorder Society · 2023Article
- DystoniaBoTXNet: Novel Neural Network Biomarker of Botulinum Toxin Efficacy in Isolated Dystonia.Annals of neurology · 2023Article
- Clinical Implications of Dystonia as a Neural Network Disorder.Advances in neurobiology · 2023Review
- Diagnosis of COVID-19 with simultaneous accurate prediction of cardiac abnormalities from chest computed tomographic images.PloS one · 2023Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Isolated dystonia is a neurological disorder of heterogeneous pathophysiology, which causes involuntary muscle contractions leading to abnormal movements and postures. Its diagnosis is remarkably challenging due to the absence of a biomarker or gold standard diagnostic test. This leads to a low agreement between clinicians, with up to 50% of cases being misdiagnosed and diagnostic delays extending up to 10.1 y. We developed a deep learning algorithmic platform, DystoniaNet, to automatically identify and validate a microstructural neural network biomarker for dystonia diagnosis from raw structural brain MRIs of 612 subjects, including 392 patients with three different forms of isolated focal dystonia and 220 healthy controls. DystoniaNet identified clusters in corpus callosum, anterior and posterior thalamic radiations, inferior fronto-occipital fasciculus, and inferior temporal and superior orbital gyri as the biomarker components. These regions are known to contribute to abnormal interhemispheric information transfer, heteromodal sensorimotor processing, and executive control of motor commands in dystonia pathophysiology. The DystoniaNet-based biomarker showed an overall accuracy of 98.8% in diagnosing dystonia, with a referral of 3.5% of cases due to diagnostic uncertainty. The diagnostic decision by DystoniaNet was computed in 0.36 s per subject. DystoniaNet significantly outperformed shallow machine-learning algorithms in benchmark comparisons, showing nearly a 20% increase in its diagnostic performance. Importantly, the microstructural neural network biomarker and its DystoniaNet platform showed substantial improvement over the current 34% agreement on dystonia diagnosis between clinicians. The translational potential of this biomarker is in its highly accurate, interpretable, and generalizable performance for enhanced clinical decision-making.
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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.