ReviewCurrent neurology and neuroscience reports2017
Update on the Genetics of Dystonia.
Review in Current neurology and neuroscience reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis 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.
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
49 citing papers in PubMed, 1 synthesis or guideline pooled it, 128 citations in OpenAlex.
- BDNF rs6265 (Val66Met) Polymorphism as a Risk Factor for Blepharospasm.Neuromolecular medicine · 2019Pooled it
- Transcriptomic profiling of DYT-TOR1A patient-derived iPSC reveals dysregulation in extracellular matrix, lipid metabolism, and Chr22q11.23.BMC medical genomics · 2025Article
- Rare GNAO1 Variant Presenting with Deep Brain Stimulation-Responsive Jaw-Opening Dystonia.Movement disorders clinical practice · 2025Article
- Article
- Whole-exome sequencing in a cohort of Chinese patients with isolated cervical dystonia.Heliyon · 2024Article
- A novel compound heterozygous mutation ofFrontiers in neurology · 2023Article
- PhenoExam: gene set analyses through integration of different phenotype databases.BMC bioinformatics · 2022Article
- Low frequency subthalamic nucleus electrical stimulation relieves the symptoms of DYT1-dystonia: a case description.Quantitative imaging in medicine and surgery · 2022Article
- A Case of Dopa Responsive Dystonia Presenting as Isolated Foot Dystonia.Journal of neurosciences in rural practice · 2022Article
- Adult-onset idiopathic dystonia: A national data-linkage study to determine epidemiological, social deprivation, and mortality characteristics.European journal of neurology · 2022Article
- Pharmacological perturbation reveals deficits in D2 receptor responses in Thap1 null mice.Annals of clinical and translational neurology · 2021Article
- Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.American journal of human genetics · 2021Article
- Article
- Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.Clinical epigenetics · 2021Article
- Article
- Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.The Journal of clinical investigation · 2021Article
- Genetic Dystonias: Update on Classification and New Genetic Discoveries.Current neurology and neuroscience reports · 2021Review
- Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome.Human genomics · 2021Article
- Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?Molecular brain · 2021Article
- Deep Brain Stimulation in KMT2B-Related Dystonia: Case Report and Review of the Literature With Special Emphasis on Dysarthria and Speech.Frontiers in neurology · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mainly due to the advent of next-generation sequencing (NGS), the field of genetics of dystonia has rapidly grown in recent years, which led to the discovery of a number of novel dystonia genes and the development of a new classification and nomenclature for inherited dystonias. In addition, new findings from both in vivo and in vitro studies have been published on the role of previously known dystonia genes, extending our understanding of the pathophysiology of dystonia. We here review the current knowledge and recent findings in the known genes for isolated dystonia TOR1A, THAP1, and GNAL as well as for the combined dystonias due to mutations in GCH1, ATP1A3, and SGCE. We present confirmatory evidence for a role of dystonia genes that had not yet been unequivocally established including PRKRA, TUBB4A, ANO3, and TAF1. We finally discuss selected novel genes for dystonia such as KMT2B and VAC14 along with the challenges for gene identification in the NGS era and the translational importance of dystonia genetics in clinical practice.
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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.