ArticleHuman molecular genetics2013
Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.
Article in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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Who cites it
57 citing papers in PubMed, 108 citations in OpenAlex.
- GNAL-associated dystonia: clinical spectrum, genetic features, and genotype-phenotype correlations.Journal of neural transmission (Vienna, Austria : 1996) · 2026Article
- Extracellular vesicle transcriptomic analysis to investigate muscle adaptation in microgravity.iScience · 2026Article
- Clinical Phenotype Comparison in Polish Patient Cohorts with and Without Molecular Diagnosis of Dystonia.Journal of clinical medicine · 2026Article
- Long-term efficiency of pallidal DBS and the role of Levodopa treatment in DYT-GNAL and 18p deletion syndrome associated dystonia: an observational study and review of literature.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
- Generalized dystonia unraveled: Molecular mechanisms, diagnostic strategies, and treatment paradigms.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 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
- Mouse Gnal transcripts and transcriptomics in isolated dystonia.Research square · 2025Article
- A Comparative Genomics Approach to Understanding the Evolution of Olfaction in Cetaceans.Journal of molecular evolution · 2024Article
- Article
- Sensory processing in the auditory and olfactory domains is normal in laryngeal dystonia.Journal of neurology · 2023Article
- Synaptic Dysfunction in Dystonia: Update From Experimental Models.Current neuropharmacology · 2023Review
- Functional abnormalities in the cerebello-thalamic pathways in a mouse model of DYT25 dystonia.eLife · 2022Article
- Genetic screening in patients of Meige syndrome and blepharospasm.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Isolated dystonia: clinical and genetic updates.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Olfaction as a Marker for Dystonia: Background, Current State and Directions.Brain sciences · 2020Review
- Rest tremor in dystonia: epidemiology, differential diagnosis, and pathophysiology.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Review
- Smell and taste in cervical dystonia.Journal of neural transmission (Vienna, Austria : 1996) · 2020Article
- Roles of the MMovement disorders : official journal of the Movement Disorder Society · 2019Review
- Gnal haploinsufficiency causes genomic instability and increased sensitivity to haloperidol.Experimental neurology · 2019Article
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
Abstract
The vast majority of patients with primary dystonia are adults with focal or segmental distribution of involuntary movements. Although ~10% of probands have at least one first- or second-degree relative to dystonia, large families suited for linkage analysis are exceptional. After excluding mutations in known primary dystonia genes (TOR1A, THAP1 and CIZ1), whole-exome sequencing identified a GNAL missense mutation (c.682G>T, p.V228F) in an African-American pedigree with clinical phenotypes that include cervical, laryngeal and hand-forearm dystonia. Screening of 760 subjects with familial and sporadic primary dystonia identified three Caucasian pedigrees with GNAL mutations [c.591dupA (p.R198Tfs*13); c.733C>T (p.R245*); and c.3G>A (p.M1?)]. These mutations show incomplete penetrance. Our findings corroborate those of a recent study which used whole-exome sequencing to identify missense and nonsense GNAL mutations in Caucasian pedigrees of mixed European ancestry with mainly adult-onset cervical and segmental dystonia. GNAL encodes guanine nucleotide-binding protein G(olf), subunit alpha [Gα(olf)]. Gα(olf) plays a role in olfaction, coupling D1 and A2a receptors to adenylyl cyclase, and histone H3 phosphorylation. African-American subjects harboring the p.V228F mutation exhibited microsmia. Lymphoblastoid cell lines from subjects with the p.V228F mutation showed upregulation of genes involved in cell cycle control and development. Consistent with known sites of network pathology in dystonia, immunohistochemical studies indicated that Gα(olf) is highly expressed in the striatum and cerebellar Purkinje cells, and co-localized with corticotropin-releasing hormone receptors in the latter.
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