ArticleMovement disorders clinical practice2025
Genetic Landscape of Dystonia in Asian Indians.
Article in Movement disorders clinical practice, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Clinical and Genetic Spectrum of ANO3-Related Dystonia with Treatment Responses in a Chinese Cohort.Genes · 2026Article
- Clinical, Radiological, and Therapeutic Profiles of Patients With DYT-TOR1A: A Single-Center Study in India and Literature Review of the Asian MDSGene Cohort.Journal of movement disorders · 2026Article
- Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.BMC medicine · 2026Article
- Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Neurobiology of Dystonia: Review of Genetics, Animal Models, and Neuroimaging.Brain sciences · 2025Review
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21 authors.
Funding
Abstract
backgroundGenomic variations associated with dystonia in Asian Indians remain largely unknown.
objectivesTo identify genomic alterations associated with dystonia in the Asian Indian population using next generation sequencing approaches.
methodsFrom September 2018 to December 2023, we enrolled 745 individuals including probands with dystonia and family members, in the Indian Movement Disorder Registry and Biobank. Clinical and demographic data were captured on a REDCap platform. We performed whole exome sequencing (WES) on DNA specimens obtained from 267 individuals with isolated, combined or complex dystonia. Variants were classified according to joint guidelines of American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathology (AMP).
resultsThe mean age of the WES cohort was 33.8 ± 16.2 years, and mean age at onset (AAO) of dystonia was 25.6 ± 17.7 years. 62.2% had isolated dystonia, 7.9% combined and 29.2% had complex phenotypes. WES identified pathogenic/ likely pathogenic variants in 54 patients (20.2%) including 14 novel variants in known dystonia genes. Variants in THAP1 were most common followed by PANK2, GLB1, PLA2G6, TOR1A, ANO3, VPS16, SGCE, SPG7, FTL and other genes. Multifocal/generalized distribution of dystonia [OR: 4.1; 95% CI 1.4-12.2, P = 0.011] and family history [OR: 4.3; 95% CI 2.1-8.9, P < 0.001] were associated with positive yield on WES.
conclusionTHAP1 was the most frequent dystonia associated gene in this cohort. Singleton WES identifiedpotentially pathogenic variants in approximately one out of five patients tested, and contributed to management decisions in 4%.
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