TO DEVELOP RAPID SCREENING METHOD FOR GENETIC LOCI OF SPINOCEREBELLAR ATAXIA

Abstract

A heterogeneous group of disorders implicated with degeneration of neurons constituted by spinocerebellar ataxia (SCA). Lack of coordination and body imbalance while moving, cognitive dysfunction, dementia, ophthalmoplegia, pyramidal signs, pigmentary retinopathy and peripheral neuropathy are symptoms associated with spinocerebellar ataxia. SCA is considered by all or some of the above-mentioned symptoms, in addition to the progressive cerebellar ataxia. A number of genetic mutations responsible for the causation of various types of SCA, these mutation localize in diverse places of genome, most of these mutation mapped and cloned already. Growing body of evidences suggest the similarities of the physiopathology and mechanism among these disorders. Mutational basis of most of these disorder is CAG trinucleotide expansion. A toxic product formed in result to the presence of expanded polyglutamine tract in the coding region of the gene. Till date more than 30 subtypes of SCA have determined. The phenotypic overlap among the cause of SCA make its diagnosis and clinical manifestation difficult. The genetic background haven’t yet determined in some of its subtypes. To elucidate the correct diagnosis, clinical findings, age of onset and geographical distribution may helpful, however absolute diagnosis necessitate molecular genetic testing. A molecular genetic diagnosis may establish based on the discovery and knowledge of numerous SCA associated gene and consequent option of predictive test and techniques. In current research wok we have determined the fastest screening method to diagnose the most frequent types of SCA in Indian population in which CAG repeat mutation occur.