ArticleJournal of neurology2016
Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function.
Article in Journal of neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- GNAL-associated dystonia: clinical spectrum, genetic features, and genotype-phenotype correlations.Journal of neural transmission (Vienna, Austria : 1996) · 2026Article
- Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.EMBO molecular medicine · 2025Review
- Functional abnormalities in the cerebello-thalamic pathways in a mouse model of DYT25 dystonia.eLife · 2022Article
- Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling.Frontiers in neurology · 2022Review
- Emerging and converging molecular mechanisms in dystonia.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Molecular Deconvolution Platform to Establish Disease Mechanisms by Surveying GPCR Signaling.Cell reports · 2018Article
- Heterozygous Gnal Mice Are a Novel Animal Model with Which to Study Dystonia Pathophysiology.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017Article
- Teenage Onset Head Tremor Due to Novel Mutation in GNAL Gene.Movement disorders clinical practiceArticle
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Authors and funding
11 authors at 6 institutions in 2 countries.
Funding
Abstract
GNAL was identified as a cause of dystonia in patients from North America, Europe and Asia. In this study, we aimed to investigate the prevalence of GNAL variants in Brazilian patients with dystonia. Ninety-one patients with isolated idiopathic dystonia, negative for THAP1 and TOR1A mutations, were screened for GNAL variants by Sanger sequencing. Functional characterization of the Gαolf protein variant was performed using the bioluminescence resonance energy transfer assay. A novel heterozygous nonsynonymous variant (p. F133L) was identified in a patient with cervical and laryngeal dystonia since the third decade of life, with no family history. This variant was not identified in healthy Brazilian controls and was not described in 63,000 exomas of the ExAC database. The F133L mutant exhibited significantly elevated levels of basal BRET and severely diminished amplitude of response elicited by dopamine, that both indicate substantial functional impairment of Gαolf in transducing receptor signals, which could be involved in dystonia pathophysiology. GNAL mutations are not a common cause of dystonia in the Brazilian population and have a lower prevalence than THAP1 and TOR1A mutations. We present a novel variant that results in partial Gαolf loss of function.
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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.