{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T03:34:41Z","timestamp":1790652881870,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,1,2]],"date-time":"2024-01-02T00:00:00Z","timestamp":1704153600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K23NS119666"],"award-info":[{"award-number":["K23NS119666"]}],"id":[{"id":"10.13039\/100000065","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":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Evaluation of the clinical utility of a genetic diagnosis in CP remains limited. We aimed to characterize the clinical utility of a genetic diagnosis by exome sequencing (ES) in patients with CP and related motor disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We enrolled participants with CP and \u201cCP masquerading\u201d conditions in an institutional ES initiative. In those with genetic diagnoses who had clinical visits to discuss results, we retrospectively reviewed medical charts, evaluating recommendations based on the genetic diagnosis pertaining to medication intervention, surveillance initiation, variant\u2010specific testing, and patient education.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We included 30 individuals with a molecular diagnosis and clinical follow\u2010up. Nearly all (28 out of 30) had clinical impact resulting from the genetic diagnosis. Medication interventions included recommendation of mitochondrial multivitamin supplementation (6.67%, <jats:italic>n<\/jats:italic>\u2009=\u20092), ketogenic diet (3.33%, <jats:italic>n<\/jats:italic>\u2009=\u20091), and fasting avoidance (3.33%, <jats:italic>n<\/jats:italic>\u2009=\u20091). Surveillance\u2010related actions included recommendations for investigating systemic complications (40%, <jats:italic>n<\/jats:italic>\u2009=\u200912); referral to new specialists to screen for systemic manifestations (33%, <jats:italic>n<\/jats:italic>\u2009=\u200910); continued follow\u2010up with established specialists to focus on specific manifestations (16.67%, <jats:italic>n<\/jats:italic>\u2009=\u20095); referral to clinical genetics (16.67%, <jats:italic>n<\/jats:italic>\u2009=\u20095) to oversee surveillance recommendations. Variant\u2010specific actions included carrier testing (10%, <jats:italic>n<\/jats:italic>\u2009=\u20093) and testing of potentially affected relatives (3.33%, <jats:italic>n<\/jats:italic>\u2009=\u20091). Patient education\u2010specific actions included referral to experts in the genetic disorder (30%, <jats:italic>n<\/jats:italic>\u2009=\u20099); and counseling about possible changes in prognosis, including recognition of disease progression and early mortality (36.67%, <jats:italic>n<\/jats:italic>\u2009=\u200911).<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>This study highlights the clinical utility of a genetic diagnosis for CP and \u201cCP masquerading\u201d conditions, evident by medication interventions, surveillance impact, family member testing, and patient education, including possible prognostic changes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.51942","type":"journal-article","created":{"date-parts":[[2024,1,3]],"date-time":"2024-01-03T05:59:24Z","timestamp":1704261564000},"page":"251-262","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Clinical utility of a genetic 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