Spinocerebellar ataxia (SCA)

About Spinocerebellar ataxia (SCA)

SCA is a single-gene hereditary disease caused by changes in a gene called STUB1. The STUB1 gene is capable of expressing the CHIP protein, which is found in almost all cells of the body. CHIP protein has various functions. It can monitor and regulate the properties of some proteins that are closely related to human health. The function of CHIP protein is particularly important in some age-related diseases. Patients with CHIP protein mutations can show accelerated aging, hypogonadism, and early-onset cerebellar ataxia. Typical symptoms of cerebellar ataxia include speech, eye movements, and difficulty swallowing, as well as a lack of control and coordination of muscles during voluntary movement.