SCA-2 (SPINOCEREBELLAR ATAXIA): ATXN2 GENE MUTATION
Test Price: ₹ 3200
SCA2 is an autosomal dominant ataxia which is mainly seen in patients from India & Cuba. It is a unique form of cerebellar degenerative disease which can arise in a wide age range of 2 to 65 years. The symptoms are similar to SCA1 but in addition , the patient also has optic disc pallor, retinal degeneration & Parkinsonian rigidity. In SCA 2 there is a CAG trinucleotide repeat in chromosome 12q which results in abnormal Ataxin-2 protein production.