Methods for the Screening and Treatment of Spinocerebellar Ataxias

Spinocerebellar ataxias (SCAs) are a heterogeneous group of inherited neurodegenerative disorders that occurs in autosomal dominant manner. The disease shares the similar molecular mechanism as other neurodegenerative disorders such as Alzheimers and Parkinsons disease in which mutant protein form due to defective/ mutant DNA, these proteins accumulate inside neuronal cells and cause Neurodegeneration. The disorders affect mainly cerebellar regions, cerebellar connections, and its associated pathways in addition to other brain regions. The general characteristics of SCAs are cognitive impairment, depression, and motor deficits. The most prominent symptom observed in SCAs patients is ataxia with other varying non-ataxia symptoms in the majority of phenotypes. The modern classification strategies of the disorder is based upon expanding genotype. Due to overlap in clinical manifestation of many SCAs types, Genetic test, and various screening tools, for instance, Magnetic Resonance Imaging (MRI), Positron Emission Tomography (PET) and Electromyography used to confirm the accumulation of mutant protein and aberrant neuronal mechanism responsible for the causation of particular phenotype. Nucleotides repeat expansion which is the basis of genetic disorder of SCAs can be determine by sequencing procedure. Similarly, techniques such as polymerase chain reaction (PCR) and gel electrophoresis with other molecular techniques and appliances used for the screening of patients in large number. The aim of this study was to explore the methods available for the screening of SCAs which form the basis of differential genetic diagnosis and list all the distinguishable clinical features and treatments available for SCAs.