Practice Recommendations for Genetic Testing of Ataxias.

ABSTRACT:

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. After removing 2971 duplicates, 4391 articles were screened by two authors using the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) framework. In areas lacking clear published evidence, we convened a multidisciplinary expert panel wi

SUBMITTER: Srinivasan SR 

PROVIDER: S-EPMC12698944 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature