ArticleMovement disorders : official journal of the Movement Disorder Society2016
GNAL mutation in isolated laryngeal dystonia.
Article in Movement disorders : official journal of the Movement Disorder Society, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03042975 (Imaging Genetics of Laryngeal Dystonia), which is not on this map. Cited by 18 papers.
What it found
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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.
Imaging Genetics of Laryngeal Dystonia
Who cites it
18 citing papers in PubMed, 29 citations in OpenAlex.
- Connectome-Wide Phenotypical and Genotypical Associations in Focal Dystonia.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017Trial
- GNAL-associated dystonia: clinical spectrum, genetic features, and genotype-phenotype correlations.Journal of neural transmission (Vienna, Austria : 1996) · 2026Article
- Molecular Imbalances Between Striosome and Matrix Compartments Characterize the Pathogenesis and Pathophysiology of Huntington's Disease Model Mouse.International journal of molecular sciences · 2025Article
- Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations.Movement disorders clinical practice · 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
- Exploring Neurophysiological Mechanisms and Treatment Efficacies in Laryngeal Dystonia: A Transcranial Magnetic Stimulation Approach.Brain sciences · 2023Review
- Sensory processing in the auditory and olfactory domains is normal in laryngeal dystonia.Journal of neurology · 2023Article
- DYT-TUBB4A (DYT4 Dystonia): Clinical Anthology of 11 Cases and Systematized Review.Movement disorders clinical practice · 2022Review
- The Patho-Neurophysiological Basis and Treatment of Focal Laryngeal Dystonia: A Narrative Review and Two Case Reports Applying TMS over the Laryngeal Motor Cortex.Journal of clinical medicine · 2022Review
- Laryngeal Dystonia: Multidisciplinary Update on Terminology, Pathophysiology, and Research Priorities.Neurology · 2021Review
- The extrinsic risk and its association with neural alterations in spasmodic dysphonia.Parkinsonism & related disorders · 2019Article
- Top-down alteration of functional connectivity within the sensorimotor network in focal dystonia.Neurology · 2019Article
- Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation.Movement disorders : official journal of the Movement Disorder Society · 2019Article
- Molecular Deconvolution Platform to Establish Disease Mechanisms by Surveying GPCR Signaling.Cell reports · 2018Article
- Recent advances in understanding and managing dystonia.F1000Research · 2018Review
- Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience.The Laryngoscope · 2018Review
- The direct basal ganglia pathway is hyperfunctional in focal dystonia.Brain : a journal of neurology · 2017Article
- Teenage Onset Head Tremor Due to Novel Mutation in GNAL Gene.Movement disorders clinical practiceArticle
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundUp to 12% of patients with laryngeal dystonia report a familial history of dystonia, pointing to involvement of genetic factors. However, its genetic causes remain unknown.
methodUsing Sanger sequencing, we screened 57 patients with isolated laryngeal dystonia for mutations in known dystonia genes TOR1A (DYT1), THAP1 (DYT6), TUBB4A (DYT4), and GNAL (DYT25). Using functional MRI, we explored the influence of the identified mutation on brain activation during symptomatic task production.
resultsWe identified 1 patient with laryngeal dystonia who was a GNAL mutation carrier. When compared with 26 patients without known mutations, the GNAL carrier had increased activity in the fronto-parietal cortex and decreased activity in the cerebellum.
conclusionsOur data show that GNAL mutation may represent one of the rare causative genetic factors of isolated laryngeal dystonia. Exploratory evidence of distinct neural abnormalities in the GNAL carrier may suggest the presence of divergent pathophysiological cascades underlying this disorder. © 2016 International Parkinson and Movement Disorder Society.
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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.