SCA-7 (SPINOCEREBELLAR ATAXIA): ATXN7 GENE MUTATION
Test Price: ₹ 3200
SCA7 is an autosomal dominant ataxia which is distinguished from other SCAs by marked retinal pigmentary degeneration leading to visual loss and macular degeneration in additon to ataxia. In SCA 7 there is a CAG trinucleotide repeat in chromosome 3p14-p21.1 which results in abnormal Ataxin-7 protein. This expanded repeat size is highly variable and corresponds with variable severity of symptoms.