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Practice Recommendations for Genetic Testing of Ataxias
Sharan R Srinivasan1, Amy D Mook1, Michelle Rochman2
1Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.
Annals of Clinical and Translational Neurology
|August 30, 2025
Summary
This study provides the first standardized guidelines for genetic counseling and testing in ataxia. Recommendations support clinicians in evaluating patients with unexplained ataxia for timely diagnosis and care.
Area of Science:
- Neurogenetics
- Genomic Medicine
Background:
- Genetic testing for ataxia has advanced significantly, improving diagnosis and treatment.
- Standardized guidelines for genetic counseling and testing in ataxia are currently lacking.
Purpose of the Study:
- To develop evidence-based recommendations for genetic counseling and testing in individuals with unexplained ataxia.
- To support clinicians in the evaluation and management of ataxia patients and their relatives.
Main Methods:
- Comprehensive literature review of 7362 articles on genetic counseling and testing in ataxia.
- Screening and filtering of articles using the EGAPP framework.
- Convening a multidisciplinary expert panel for evidence gaps and consensus building.
Main Results:
- Developed 20 recommendations covering testing indications, counseling, interpretation, and referrals.
- Emphasized formal genetic counseling and whole genome sequencing as first-line testing.
- Highlighted the importance of detecting repeat expansions in hereditary ataxia.
Conclusions:
- These recommendations provide a framework for clinicians managing unexplained ataxia.
- Facilitates timely and appropriate genetic evaluation for patients and at-risk family members.
- Aims to improve diagnostic accuracy and patient care in hereditary ataxia.
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