Mechanisms of Ataxia Pathogenesis and Role of Genetic Factors

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. Genetic ataxia are very heterogeneous and have different causes. Ataxia can appear as a single symptom with multiple symptoms, indicating a more complex disease. 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, 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 of the types of ataxia is spinocerebllar ataxia (SCA), the autosomal dominant mode of inheritance. These are progressive neurodegenerative diseases that affect the cerebellum but can also affect other areas, including the brainstem. Spinocerebllar ataxia has a variety of types that fall into three groups according to the classification of hardening according to clinical symptoms. 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. In this article, it has been attempted to investigate the mechanisms that cause different types of SCAs while investigating ataxia spinocerebllar disease.

کلیدواژه ها:

Ataxia ، Spinocerebllar ، Functional ، RNA