{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T18:11:20Z","timestamp":1774289480100,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,11,5]],"date-time":"2020-11-05T00:00:00Z","timestamp":1604534400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Noninvasive Electrocardiol"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Friedreich's ataxia is a rare degenerative neuromuscular disorder, caused by a homozygous GAA triplet repeat expansion in the frataxin (FXN) gene, with a broad clinical phenotype characterized by progressive gait and limb ataxia, dysarthria, and loss of lower limb reflexes; cardiac involvement is represented by hypertrophic cardiomyopathy, ventricular arrhythmias, and sudden cardiac deaths. Currently, no definite therapy is available, while many drugs are under investigation; for this reasons, we need markers of short\u2010 and long\u2010term treatment efficacy acting on different tissue for trial evaluation. We describe the case of a 21\u2010year\u2010old patient affected by Friedreich's ataxia on wheel\u2010chair, with initial cardiac involvement and electrocardiographic features characterized by thiamine treatment\u2010related negative T wave and QTc variations. We discuss plausible physiopathology and potential ECG role implications as an intermediate marker of treatment response in future clinical trials considering patients affected by Friedreich's ataxia.<\/jats:p>","DOI":"10.1111\/anec.12813","type":"journal-article","created":{"date-parts":[[2020,11,5]],"date-time":"2020-11-05T12:27:56Z","timestamp":1604579276000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Electrocardiogram in Friedreich's ataxia: A short\u2010term surrogate endpoint for treatment efficacy"],"prefix":"10.1111","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6898-4657","authenticated-orcid":false,"given":"Sandra","family":"Mastroianno","sequence":"first","affiliation":[{"name":"Cardiology Unit Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo 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