{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T23:55:51Z","timestamp":1782258951181,"version":"3.54.5"},"reference-count":37,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,5,15]],"date-time":"2013-05-15T00:00:00Z","timestamp":1368576000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Italian Ministry of Health (Ricerca Corrente 2013) and the Dystonia coalition grant"},{"name":"Department of Health's NIHR Biomedical Research Centres' funding scheme"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Mutations or exon deletions of the epsilon\u2010sarcoglycan (SGCE) gene cause myoclonus\u2010dystonia (M\u2010D), but a subset of M\u2010D patients are mutation\u2010negative and the sensitivity and specificity of current genetic testing criteria are unknown. We screened 46 newly enrolled M\u2010D patients for <jats:italic>SGCE<\/jats:italic> mutations and deletions; moreover, 24 subjects previously testing negative for <jats:italic>SGCE<\/jats:italic> mutations underwent gene dosage analysis. In our combined cohorts, we calculated sensitivity, specificity, positive and negative predictive values, and area under the curve of 2 published sets of M\u2010D diagnostic criteria. A stepwise logistic regression was used to assess which patients' characteristics best discriminated mutation carriers and to calculate a new mutation predictive score (\u201cnew score\u201d), which we validated in previously published cohorts. Nine of 46 (19.5%) patients of the new cohort carried <jats:italic>SCGE<\/jats:italic> mutations, including 5 novel point mutations and 1 whole\u2010gene deletion; in the old cohort, 1 patient with a complex phenotype carried a 5.9\u2010Mb deletion encompassing <jats:italic>SGCE<\/jats:italic>. Current diagnostic criteria had a poor ability to discriminate <jats:italic>SGCE<\/jats:italic>\u2010positive from <jats:italic>SGCE<\/jats:italic>\u2010negative patients in our cohort; conversely, age of onset, especially if associated with psychiatric features (as included in the new score), showed the best discriminatory power to individuate <jats:italic>SGCE<\/jats:italic> mutation carriers, both in our cohort and in the validation cohort. Our results suggest that young age at onset of motor symptoms, especially in association with psychiatric disturbance, are strongly predictive for <jats:italic>SGCE<\/jats:italic> positivity. We suggest performing gene dosage analysis by multiple ligation\u2010dependent probe amplification (MLPA) to individuate large <jats:italic>SGCE<\/jats:italic> deletions that can be responsible for complex phenotypes. \u00a9 2013 <jats:italic>Movement<\/jats:italic> Disorder Society<\/jats:p>","DOI":"10.1002\/mds.25506","type":"journal-article","created":{"date-parts":[[2013,5,15]],"date-time":"2013-05-15T10:22:38Z","timestamp":1368613358000},"page":"787-794","source":"Crossref","is-referenced-by-count":34,"title":["Defining the Epsilon\u2010Sarcoglycan (SGCE) Gene Phenotypic Signature in Myoclonus\u2010Dystonia: A Reappraisal of Genetic Testing Criteria"],"prefix":"10.1002","volume":"28","author":[{"given":"Miryam","family":"Carecchio","sequence":"first","affiliation":[{"name":"Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology London United Kingdom"},{"name":"Department of Neurology Amedeo Avogadro University Novara 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