ArticleJAMA neurology2014
Mutations in GNAL: a novel cause of craniocervical dystonia.
Article in JAMA neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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39 citing papers in PubMed, 81 citations in OpenAlex.
- GNAL-associated dystonia: clinical spectrum, genetic features, and genotype-phenotype correlations.Journal of neural transmission (Vienna, Austria : 1996) · 2026Article
- Shared and distinct dynamic brain activity and functional connectivity variability in patients with isolated craniocervical dystonia.Brain communications · 2026Article
- [Meige syndrome with dyspnea as main manifestation: a report of one case and literature review].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Review
- Molecular Imbalances Between Striosome and Matrix Compartments Characterize the Pathogenesis and Pathophysiology of Huntington's Disease Model Mouse.International journal of molecular sciences · 2025Article
- Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.EMBO molecular medicine · 2025Review
- Cyclic peptide inhibitors function as molecular glues to stabilize Gq/11 heterotrimers.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- A Comparative Genomics Approach to Understanding the Evolution of Olfaction in Cetaceans.Journal of molecular evolution · 2024Article
- Isolated Cervical Dystonia: Diagnosis and Classification.Movement disorders : official journal of the Movement Disorder Society · 2023Review
- Synaptic Dysfunction in Dystonia: Update From Experimental Models.Current neuropharmacology · 2023Review
- Characterizing the temporal discrimination threshold in musician's dystonia.Scientific reports · 2022Article
- Functional abnormalities in the cerebello-thalamic pathways in a mouse model of DYT25 dystonia.eLife · 2022Article
- Systematic identification of aberrant non-coding RNAs and their mediated modules in rotator cuff tears.Frontiers in molecular biosciences · 2022Article
- Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling.Frontiers in neurology · 2022Review
- Identification of serum microRNA signatures associated with autism spectrum disorder as promising candidate biomarkers.Heliyon · 2021Article
- Emerging and converging molecular mechanisms in dystonia.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Isolated dystonia: clinical and genetic updates.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Blepharospasm, Oromandibular Dystonia, and Meige Syndrome: Clinical and Genetic Update.Frontiers in neurology · 2021Review
- Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome.Frontiers in neurology · 2020Review
- The Spectrum of Movement Disorders in 18-p Deletion Syndrome.Movement disorders clinical practice · 2019Article
- Maladaptive striatal plasticity and abnormal reward-learning in cervical dystonia.The European journal of neuroscience · 2019Article
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24 authors at 8 institutions in 5 countries.
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Abstract
importanceMutations in the GNAL gene have recently been shown to cause primary torsion dystonia. The GNAL-encoded protein (Gαolf) is important for dopamine D1 receptor function and odorant signal transduction. We sequenced all 12 exons of GNAL in 461 patients from Germany, Serbia, and Japan, including 318 patients with dystonia (190 with cervical dystonia), 51 with hyposmia and Parkinson disease, and 92 with tardive dyskinesia or acute dystonic reactions. OBSERVATIONS: We identified the following two novel heterozygous putative mutations in GNAL: p.Gly213Ser in a German patient and p.Ala353Thr in a Japanese patient. These variants were predicted to be pathogenic in silico, were absent in ethnically matched control individuals, and impaired Gαolf coupling to D1 receptors in a bioluminescence energy transfer (BRET) assay. Two additional variants appeared to be benign because they behaved like wild-type samples in the BRET assay (p.Ala311Thr) or were detected in ethnically matched controls (p.Thr92Ala). Both patients with likely pathogenic mutations had craniocervical dystonia with onset in the fifth decade of life. No pathogenic mutations were detected in the patients with hyposmia and Parkinson disease, tardive dyskinesias, or acute dystonic reactions. CONCLUSIONS AND RELEVANCE: Mutations in GNAL can cause craniocervical dystonia in different ethnicities. The BRET assay may be a useful tool to support the pathogenicity of identified variants in the GNAL gene.
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