Open AccessSpinocerebellar ataxia type 6 in eastern India: Some new observations
Author(s) -
Kalyan B Bhattacharyya,
Debabrata Pulai,
Deb Shankar Guin,
Gautam Ganguly,
Anindita Joardar,
Sarnava Roy,
Saurabh Rai,
Atanu Biswas,
Alok Pandit,
Arijit Roy,
Asit Kumar Senapati
Publication year - 2016
Publication title -
annals of indian academy of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.427
H-Index - 31
eISSN - 1998-3549
pISSN - 0972-2327
DOI - 10.4103/0972-2327.186823
Subject(s) - medicine , spinocerebellar ataxia , trinucleotide repeat expansion , population , pediatrics , pathological , demography , genetics , pathology , disease , environmental health , allele , biology , sociology , gene
Spinocerebellar ataxias (SCAs) are hereditary, autosomal dominant progressive neurodegenerative disorders showing clinical and genetic heterogeneity. They are usually manifested clinically in the third to fifth decade of life although there is a wide variability in the age of onset. More than 36 different types of SCAs have been reported so far and about half of them are caused by pathological expansion of the trinucleotide, Cytosine Alanine Guanine (CAG) repeat. The global prevalence of SCA is 0.3-2 per 100,000 population, SCA3 being the commonest variety worldwide, accounting for 20-50 per cent of all cases, though SCA 2 is generally considered as the commonest one in India. However, SCA6 has not been addressed adequately from India though it is common in the eastern Asian countries like, Japan, Korea and Thailand.