Practice Recommendations for Genetic Testing of Ataxias.

Objective: Over the past decade, significant advances in genetic testing for ataxia have improved diagnostic accuracy, informed clinical trial eligibility, guided treatment decisions, and enabled cascade testing of at-risk relatives. While guidance exists for other neurogenetic conditions, there are no standardized guidelines on genetic counseling and testing for individuals with unexplained ataxia.

Methods: We conducted a comprehensive literature review on genetic counseling and testing in ataxia, identifying 7362 articles.