Genetic evaluation of spinocerebellar ataxia 1,2,3,6

چکیده مقاله

Abstract— SCA (Spinocerebellar ataxia) is a subset of inherited cerebellar ataxia that is autosomal dominantly transferred. These are progressive neurological diseases that have clinical features of ataxia Which result from the destruction of the cerebellum, But it can also affect other areas, including the brainstem. Many SCAs are caused by the frequent proliferation of CAG nucleotides that encode polyglutamine and thus produce the toxic polyglutamine (polyQ) protein. They are classified according to specific genetic mutations. The three main symptoms of SCA include gait ataxia and incoordination, nystagmus, vision problems, and dysarthria. In this study,15 Iranian suspected to SCA disease were clinically diagnosed during NOV/2019-SEP/2021. PCR was performed for 15 patients suspected of Spinocerebellar Ataxia and patients was analyzed according to vertical electrophoresis. PCR function was successful for all 15 patients and according to the results obtained by conventional PCR, the number of three nucleotide replications for 12 pepole was within the normal range and 3 patients were reported. According to the PCR method, studies showed that 3 suspects of SCA were infected with SCA3, while 12 patients were reported using the normal.Therefore, the PCR method is an accurate method for detecting three abnormal CAG nucleotides in spinocerebellar ataxia type 1, 2, 3 and 6. The purpose of this test is to provide a diagnostic method and prenatal diagnosis of this disease.