ArticleJournal of neurology, neurosurgery, and psychiatry2004
Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India.
Article in Journal of neurology, neurosurgery, and psychiatry, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 72 citations in OpenAlex.
- Post-symptomatic administration of hMSCs exerts therapeutic effects in SCA2 mice.Stem cell research & therapy · 2024Article
- Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool.Advanced genetics (Hoboken, N.J.) · 2022Article
- Clinical Spectrum of Movement Disorders in Neurology Inpatients in a Tertiary Care Centre.Journal of neurosciences in rural practice · 2021Article
- Frequency of Spinocerebellar Ataxia type 1, 2, 3,6 and 7 and clinical profile of Spinocerebellar Ataxia type 3 in Malaysia.Cerebellum & ataxias · 2020Article
- Genetic testing for clinically suspected spinocerebellar ataxias: report from a tertiary referral centre in India.Journal of genetics · 2018Article
- Motor Dysfunctions and Neuropathology in Mouse Models of Spinocerebellar Ataxia Type 2: A Comprehensive Review.Frontiers in neuroscience · 2016Review
- Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort.BMC medical genetics · 2014Article
- Clinical profile and genetic correlation of patients with spinocerebellar ataxia: A study from a tertiary care centre in Eastern India.Annals of Indian Academy of Neurology · 2014Article
- Clinical analysis of adult-onset spinocerebellar ataxias in Thailand.BMC neurology · 2014Article
- An update on Spino-cerebellar ataxias.Annals of Indian Academy of Neurology · 2013Review
- Autosomal dominant hereditary ataxia in Sri Lanka.BMC neurology · 2013Article
- Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.Orphanet journal of rare diseases · 2013Review
- Analysis of autosomal dominant spinocerebellar ataxia type 1 in an extended family of central India.Indian journal of human genetics · 2012Article
- Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles.European journal of human genetics : EJHG · 2012Article
- Mitochondrial dysfunction and oxidative stress contribute to the pathogenesis of spinocerebellar ataxia type 12 (SCA12).The Journal of biological chemistry · 2011Article
- High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia.BMC medical genetics · 2010Article
- Spinocerebellar ataxia type 17 in a patient from an Indian kindred.Journal of neurology · 2006Article
- Role of glutamine deamidation in neurodegenerative diseases associated with triplet repeat expansions: a hypothesis.Journal of molecular neuroscience : MN · 2006Article
- Insights into the mutational history and prevalence of SCA1 in the Indian population through anchored polymorphisms.Human genetics · 2005Article
- Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India.Movement disorders clinical practiceArticle
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveSpinocerebellar ataxia type 2 (SCA2) has been reported as the commonest dominant hereditary ataxia in India. However, India is an ethnically and religiously diverse population. Previous studies have not clearly indicated exact ethnic and religious origins, and must therefore be interpreted with caution. The purpose of this study was to determine the prevalence of different SCA mutations in a relatively homogeneous population from eastern India.
methodsWe identified 28 families with autosomal dominant cerebellar ataxia from eastern India. Each underwent full clinical evaluation and were analysed for the presence of SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA12, and SCA17 mutations. In addition, haplotype analysis was carried out in seven of the 16 families with SCA2.
resultsSeven patients from four (14%) families were positive for an expansion in SCA1 and 26 patients from 16 (57%) families were positive for an expansion in SCA2. No mutations were detected in the remaining eight families (29%). Most of the SCA1 and SCA2 families were Hindu from the state of Bihar. Five out of 26 SCA2 patients in this study did not have slow saccades. In addition, four of seven SCA1 patients had slow saccades. We found an association between the SCA2 CAG repeat expansion and the 285 base pair (bp) allele of microsatellite marker D12S1672, and also data supportive of the association between the expansion and the 225 bp allele of D12S1333, which has been previously described.
conclusionsWe conclude that (1) although slow ocular saccades are highly suggestive of SCA2, that they are not universal, nor are they exclusive to this disorder and (2) SCA2 is likely to be the commonest dominant ataxia in eastern India, with further evidence for a founder effect.
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