Annals of Indian Academy of Neurology
ORIGINAL ARTICLE
Year
: 2014  |  Volume : 17  |  Issue : 4  |  Page : 387--391

Clinical profile and genetic correlation of patients with spinocerebellar ataxia: A study from a tertiary care centre in Eastern India


Debabrata Pulai1, Deb Shankar Guin1, Kalyan B Bhattacharyya1, Goutam Ganguly1, Anindita Joardar2, Sarnava Roy2, Atanu Biswas1, Alak Pandit1, Arijit Roy1, Asit Kumar Senapati1 
1 Department of Neurology, Bangur Institute of Neurology, Kolkata, West Bengal, India
2 Department of Neurogenetics, Bangur Institute of Neurology, Kolkata, West Bengal, India

Correspondence Address:
Kalyan B Bhattacharyya
Amrapali point, Flat 1C, 59f, Bosepukur Road, Kolkata - 700 042, West Bengal
India

Background: Progressive cerebellar ataxia inherited by autosomal dominant transmission is known as Spino Cerebellar Ataxia (SCA). Aims and Objectives: To look for various clinical profile and molecular genetics of patients with SCAs and their phenotype-genotype correlation of patients with SCAs. Materials and Methods: This 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. Results: 83 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. Conclusion: Our 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.


How to cite this article:
Pulai D, Guin DS, Bhattacharyya KB, Ganguly G, Joardar A, Roy S, Biswas A, Pandit A, Roy A, Senapati AK. Clinical profile and genetic correlation of patients with spinocerebellar ataxia: A study from a tertiary care centre in Eastern India.Ann Indian Acad Neurol 2014;17:387-391


How to cite this URL:
Pulai D, Guin DS, Bhattacharyya KB, Ganguly G, Joardar A, Roy S, Biswas A, Pandit A, Roy A, Senapati AK. Clinical profile and genetic correlation of patients with spinocerebellar ataxia: A study from a tertiary care centre in Eastern India. Ann Indian Acad Neurol [serial online] 2014 [cited 2020 Aug 14 ];17:387-391
Available from: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2014;volume=17;issue=4;spage=387;epage=391;aulast=Pulai;type=0