ReviewTremor and other hyperkinetic movements (New York, N.Y.)2018
Risk Factor Genes in Patients with Dystonia: A Comprehensive Review.
Review in Tremor and other hyperkinetic movements (New York, N.Y.), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 18 citations in OpenAlex.
- TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballism.Parkinsonism & related disorders · 2025Article
- Clinical implications of genetic polymorphisms in blepharospasm.Experimental and therapeutic medicine · 2024Article
- Neurosurgical and pharmacological management of dystonia.World journal of psychiatry · 2024Review
- Familial Mediterranean fever gene variations could triggerRheumatology advances in practice · 2024Article
- Haloperidol-induced isolated lingual dystonia.BMJ case reports · 2021Article
- Isolated dystonia: clinical and genetic updates.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Dystonia updates: definition, nomenclature, clinical classification, and etiology.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Association Between Dystonia-Related Genetic Loci and Parkinson's Disease in Eastern China.Frontiers in neurology · 2021Article
- CYP1A2 rs762551 and ADORA2A rs5760423 Polymorphisms in Patients with Blepharospasm.Journal of molecular neuroscience : MN · 2020Article
- Genetic Risk Factors for Essential Tremor: A Review.Tremor and other hyperkinetic movements (New York, N.Y.) · 2020Review
- Secondary Worsening Following DYT1 Dystonia Deep Brain Stimulation: A Multi-country Cohort.Frontiers in human neuroscience · 2020Article
- The neurobiological basis for novel experimental therapeutics in dystonia.Neurobiology of disease · 2019Review
- Deep Brain Stimulation in Patients with Isolated Generalized Dystonia Caused byMovement disorders clinical practice · 2019Article
- Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update. II. Hyperkinetic disorders.Journal of neural transmission (Vienna, Austria : 1996) · 2019Review
- ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2019Article
- Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations.Ear and hearingArticle
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Dystonia is a movement disorder with high heterogeneity regarding phenotypic appearance and etiology that occurs in both sporadic and familial forms. The etiology of the disease remains unknown. However, there is increasing evidence suggesting that a small number of gene alterations may lead to dystonia. Although pathogenic variants to the familial type of dystonia have been extensively reviewed and discussed, relatively little is known about the contribution of single-nucleotide polymorphisms (SNPs) to dystonia. This review focuses on the potential role of SNPs and other variants in dystonia susceptibility. Methods: We searched the PubMed database for peer-reviewed articles published in English, from its inception through January 2018, that concerned human studies of dystonia and genetic variants. The following search terms were included: "dystonia" in combination with the following terms: 1) "polymorphisms" and 2) "SNPs" as free words. Results: A total of 43 published studies regarding Discussion: To date, a few variants, which are possibly involved in several molecular pathways, have been related to dystonia. Large cohort studies are needed to determine robust associations between variants and dystonia with adjustment for other potential cofounders, in order to elucidate the pathogenic mechanisms of dystonia and the net effect of the genes.
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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.