Mechanisms of Ataxia Pathogenesis and Role of Genetic Factors

چکیده مقاله

Introduction: Ataxia means the inability to coordinate movements, which is a cerebral neurological disorder that results from the loss of coordination between muscle movements and affects walking, seeing and talking. The disease can be temporary or permanent, and may also be caused by environmental factors such as alcohol, trauma or toxic drugs, even some factors such as infection, tumors or vitamin deficiency can also cause the disease. Description: Genetic ataxia are very heterogeneous and have different causes. Ataxia can appear as a single symptom with multiple symptoms, indicating a more complex disease. Though many ataxia have genetic causes. The prevalence of hereditary ataxia varies with the population, with approximately 1 to 9 out of every 100,000 estimated. One type of genetically based ataxia is cerebellar ataxia (SCA), which is autosomal dominant. SCAs are progressive neurological diseases that affect the cerebellum but can also affect other areas, including the brainstem. Discussion and conclution: Due to the fact that SCA is an important type of cerebellar ataxia and has a genetic basis, the diagnosis of this disease before birth and also in adults is very important for treatment, which is possible by different techniques for diagnosing SCA. Many SCAs are caused by alterations in the repetition of CAG nucleotide sequences that affect polyglutamine gene expression. The 5 main known mechanisms involved in SCA include: Toxic Ribonucleic acid (RNA) gain of function, Mitochondrial dysfunction, Channelopathies, Autophagy, Transcription dysregulation.There are different types of cerebellar ataxias, which in this article we have classified according to the symptoms with the Harding classification. In addition to studying cerebellar ataxia, the mechanisms that cause different types of SCA types have been studied