ATXN

ATXN is a term that can refer to several different things, most notably a family of genes and their corresponding proteins. These genes are known as ataxin genes. There are several known ataxin genes, including ATXN1, ATXN2, ATXN3, ATXN7, and ATXN8, among others. The proteins produced by these genes play various roles in the body, but are particularly important in the nervous system.

Mutations in these ataxin genes are a primary cause of a group of inherited neurological disorders known as spinocerebellar ataxias (SCAs). SCAs are characterized by progressive degeneration of the cerebellum, which is responsible for coordinating movement, balance, and posture. This degeneration leads to symptoms such as ataxia (lack of voluntary coordination of muscle movements), tremor, dysarthria (difficulty speaking), and problems with gait and balance. Different mutations in specific ataxin genes can lead to different types of SCAs, such as SCA1, SCA2, SCA3 (also known as Machado-Joseph disease), and SCA7. Research into the function of ataxin proteins and the mechanisms by which their mutations cause disease is ongoing, with the goal of developing effective treatments for these debilitating conditions.