ArticleAnnals of Indian Academy of Neurology2014
Clinical profile and genetic correlation of patients with spinocerebellar ataxia: A study from a tertiary care centre in Eastern India.
Article in Annals of Indian Academy of Neurology, 2014. 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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5 citing papers in PubMed, 10 citations in OpenAlex.
- Spinocerebellar Ataxia Type 12: Spectrums of Movement Disorders and Clinical Features.Neuro-degenerative diseases · 2026Review
- Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool.Advanced genetics (Hoboken, N.J.) · 2022Article
- Spinocerebellar ataxia type 6 in eastern India: Some new observations.Annals of Indian Academy of NeurologyArticle
- Evaluation of Various Movement Disorders in Patients of Genetically Proven Spinocerebellar Ataxia: A Study from a Tertiary Care Center in Northern India.Annals of Indian Academy of NeurologyArticle
- Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India.Movement disorders clinical practiceArticle
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10 authors at 1 institution in 1 country.
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Abstract
backgroundProgressive cerebellar ataxia inherited by autosomal dominant transmission is known as Spino Cerebellar Ataxia (SCA). AIMS AND
objectivesTo look for various clinical profile and molecular genetics of patients with SCAs and their phenotype-genotype correlation of patients with SCAs. MATERIALS AND
methodsThis was a cross-sectional study conducted at Bangur Institute of Neurosciences, Kolkata from June 2010 to April 2013. We selected patients from the neurogenetic clinic of our institute and performed genetic test for SCA 1, 2, 3, 6 and 12. The diagnosis was based on suggestive clinical features and positive genetic study, done by polymerase chain reaction.
results83 patients were tested for trineucleotide repeats and turned out 45 positive for the mentioned SCAs. We found 13(28.9%) SCA-1, 18(40%) SCA-2, 7(15.6%) SCA-3, 6(13.3) SCA-6 and 1(2.2%) SCA-12 patients. Half of the remaining 38 patients had positive family history. The mean age of onset were 38.46 years in SCA-1, 29.55 years in SCA-2, 38.43 years in SCA-3, 47.33 years in SCA-6. Slow saccades were observed in 7(53.8%) SCA-1, 17(94.4%) SCA-2, 4(57.1%) SCA-3, 3(50%) SCA-6 patients. Hyporeflexia was noticed in 5(27.8%) SCA-2 patients. Pyramidal tract involvement was found in 8(61.5%) SCA-1, 4(22.2%) SCA-2, 4(57.1%) SCA-3 and 1(16.7%) SCA-6 patients.
conclusionOur study showed SCA-2 is the most common variety of SCA and genotypic-phenotypic correlation was observed in SCA-1,2,6 and 12 patients.
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