SCA12

SCA12, also known as SCA12A or SCA12B, is a gene located on chromosome 12q24.1. It is associated with spinocerebellar ataxia type 12 (SCA12), a rare genetic disorder characterized by progressive degeneration of the cerebellum and other parts of the brain, leading to loss of coordination, balance, and other motor functions. SCA12 is an autosomal dominant disorder, meaning that a single copy of the mutated gene is sufficient to cause the condition. The gene encodes a protein called ataxin-12, which plays a role in maintaining the structure and function of the cerebellum. Mutations in the SCA12 gene result in the production of an abnormal ataxin-12 protein, which aggregates and forms inclusions in neurons, leading to their death and the symptoms of SCA12. There is currently no cure for SCA12, but treatment focuses on managing symptoms and slowing the progression of the disease. Genetic counseling and testing are available to individuals with a family history of SCA12. Research is ongoing to better understand the molecular mechanisms of SCA12 and to develop potential therapies.