ArticleAdvanced genetics (Hoboken, N.J.)2022
Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool.
Article in Advanced genetics (Hoboken, N.J.), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 25 citations in OpenAlex.
- Physiotherapy in Spinocerebellar Ataxia Following COVID-19: A Biomechanical and Biopsychosocial Case Report.Physiotherapy research international : the journal for researchers and clinicians in physical therapy · 2026Article
- Mitochondrial DNA Haplogroups and Age at Onset of Spinocerebellar Ataxia Type 2: A Study in Indian Patients.Annals of Indian Academy of Neurology · 2026Article
- Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- Diagnostic Yield and Genetic Burden Analysis of Frequently Mutated Genes in Progressive Ataxia.Annals of Indian Academy of Neurology · 2025Article
- ATXN2 polyglutamine intermediate repeats length expansions in Malaysian patients with amyotrophic lateral sclerosis (ALS).Neurogenetics · 2025Article
- Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin.Neurogenetics · 2024Article
- Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report.BMC neurology · 2024Article
- Identifying unstable CNG repeat loci in the human genome: a heuristic approach and implications for neurological disorders.Human genome variation · 2024Article
- Article
- STRIDE-DB: a comprehensive database for exploration of instability and phenotypic relevance of short tandem repeats in the human genome.Database : the journal of biological databases and curation · 2024Article
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Authors and funding
38 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cerebellar ataxias (CAs) represent a group of autosomal dominant and recessive neurodegenerative disorders affecting cerebellum with or without spinal cord. Overall, CAs have preponderance for tandem nucleotide repeat expansions as an etiological factor (10 TREs explain nearly 30-40% of ataxia cohort globally). The experience of 10 years of common genetic ataxia subtypes for ≈5600 patients' referrals (Pan-India) received at a single center is shared herein. Frequencies (in %, n) of SCA types and FRDA in the sample cohort are observed as follows: SCA12 (8.6%, 490); SCA2 (8.5%, 482); SCA1 (4.8%, 272); SCA3 (2%, 113); SCA7 (0.5%, 28); SCA6 (0.1%, 05); SCA17 (0.1%, 05), and FRDA (2.2%, 127). A significant amount of variability in TRE lengths at each locus is observed, we noted presence of biallelic expansion, co-occurrence of SCA-subtypes, and the presence of premutable normal alleles. The frequency of mutated GAA-FRDA allele in healthy controls is 1/158 (0.63%), thus an expected FRDA prevalence of 1:100 000 persons. The data of this study are relevant not only for clinical decision making but also for guidance in direction of genetic investigations, transancestral comparison of genotypes, and lastly provide insight for policy decision for the consideration of SCAs under rare disease category.
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