ArticleCerebral cortex (New York, N.Y. : 1991)2018
Polygenic Risk of Spasmodic Dysphonia is Associated With Vulnerable Sensorimotor Connectivity.
Article in Cerebral cortex (New York, N.Y. : 1991), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 49 citations in OpenAlex.
- Structural and functional brain alterations in laryngeal dystonia: A coordinate-based activation likelihood estimation meta-analysis.Human brain mapping · 2024Pooled it
- Altered brain connectivity in hyperkinetic movement disorders: A review of resting-state fMRI.NeuroImage. Clinical · 2023Pooled it
- Connectome-Wide Phenotypical and Genotypical Associations in Focal Dystonia.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017Trial
- Disorders of the Basal Ganglia and Cerebellum: A Comprehensive Review of Speech Sensorimotor Symptoms and Responses to Feedback Perturbations.Neurobiology of language (Cambridge, Mass.) · 2026Review
- Cerebellar motor and non-motor contributions to dystonia pathophysiology and treatment.Dystonia (Lausanne, Switzerland) · 2026Article
- Abnormal Brain Iron Metabolism is Linked to Altered Neural Function in Isolated Laryngeal Dystonia.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Neurobiology of Dystonia: Review of Genetics, Animal Models, and Neuroimaging.Brain sciences · 2025Review
- 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
- Exploring Neurophysiological Mechanisms and Treatment Efficacies in Laryngeal Dystonia: A Transcranial Magnetic Stimulation Approach.Brain sciences · 2023Review
- 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
- Function and dysfunction of the dystonia network: an exploration of neural circuits that underlie the acquired and isolated dystonias.Dystonia (Lausanne, Switzerland) · 2023Article
- Laryngeal Dystonia: Multidisciplinary Update on Terminology, Pathophysiology, and Research Priorities.Neurology · 2021Review
- Isolated dystonia: clinical and genetic updates.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Neural endophenotypes and predictors of laryngeal dystonia penetrance and manifestation.Neurobiology of disease · 2021Article
- Neural Representations of the Voice Tremor Spectrum.Movement disorders : official journal of the Movement Disorder Society · 2020Article
- A microstructural neural network biomarker for dystonia diagnosis identified by a DystoniaNet deep learning platform.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- The large-scale structural connectome of task-specific focal dystonia.Human brain mapping · 2020Article
- Altered sensory system activity and connectivity patterns in adductor spasmodic dysphonia.Scientific reports · 2020Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
Spasmodic dysphonia (SD), or laryngeal dystonia, is an isolated task-specific dystonia of unknown causes and pathophysiology that selectively affects speech production. Using next-generation whole-exome sequencing in SD patients, we computed polygenic risk score from 1804 genetic markers based on a genome-wide association study in another form of similar task-specific focal dystonia, musician's dystonia. We further examined the associations between the polygenic risk score, resting-state functional connectivity abnormalities within the sensorimotor network, and SD clinical characteristics. We found that the polygenic risk of dystonia was significantly associated with decreased functional connectivity in the left premotor/primary sensorimotor and inferior parietal cortices in SD patients. Reduced connectivity of the inferior parietal cortex was correlated with the age of SD onset. The polygenic risk score contained a significant number of genetic variants lying near genes related to synaptic transmission and neural development. Our study identified a polygenic contribution to the overall genetic risk of dystonia in the cohort of SD patients. Associations between the polygenic risk and reduced functional connectivity of the sensorimotor and inferior parietal cortices likely represent an endophenotypic imaging marker of SD, while genes involved in synaptic transmission and neuron development may be linked to the molecular pathophysiology of this disorder.
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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.