{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T19:32:07Z","timestamp":1792524727217,"version":"4.5.0"},"reference-count":79,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:00:00Z","timestamp":1756425600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007270","name":"University of Michigan","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007270","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>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\u2010risk relatives. While guidance exists for other neurogenetic conditions, there are no standardized guidelines on genetic counseling and testing for individuals with unexplained ataxia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>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 with clinical and genetic expertise in ataxia. Following conflict resolution and additional filtering, 68 articles were included in our guidance development.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Based on this evidence and expert consensus, we developed 20 recommendations addressing indications for genetic testing in hereditary ataxia, components of pre\u2010 and post\u2010test counseling, testing options, insurance considerations, interpretation of test results, and appropriate referral to genetic counseling services. Major themes include the importance of formal genetic counseling and suggesting whole genome sequencing as first\u2010line testing, with an emphasis on detecting repeat expansions.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>These evidence\u2010based, consensus\u2010driven recommendations aim to support clinicians in evaluating patients with unexplained ataxia in order to provide timely evaluation and care, both for patients and their at\u2010risk relatives.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/acn3.70171","type":"journal-article","created":{"date-parts":[[2025,8,30]],"date-time":"2025-08-30T04:58:46Z","timestamp":1756529926000},"page":"2398-2409","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Practice Recommendations for Genetic Testing of Ataxias"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2729-6625","authenticated-orcid":false,"given":"Sharan R.","family":"Srinivasan","sequence":"first","affiliation":[{"name":"Department of Neurology University of Michigan  Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy D.","family":"Mook","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Michigan  Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Rochman","sequence":"additional","affiliation":[{"name":"Department of Neurology Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin Yun Helen","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology Mass General Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiyi","family":"Mu","sequence":"additional","affiliation":[{"name":"Department of Neurology Johns Hopkins University  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George R.","family":"Wilmot","sequence":"additional","affiliation":[{"name":"Department of Neurology Emory University  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liana S.","family":"Rosenthal","sequence":"additional","affiliation":[{"name":"Department of Neurology Johns Hopkins University  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy R.","family":"Uhlmann","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine, Department of Internal Medicine University of Michigan  Ann Arbor Michigan USA"},{"name":"Department of Human Genetics University of Michigan  Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,8,29]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn.2017.92"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(10)70183-6"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70305-9"},{"key":"e_1_2_9_5_1","unstructured":"P. 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