{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:25:14Z","timestamp":1791293114187,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2009,6,22]],"date-time":"2009-06-22T00:00:00Z","timestamp":1245628800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2009,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Mutations in <jats:italic>SCARB2<\/jats:italic> were recently described as causing action myoclonus renal failure syndrome (AMRF). We hypothesized that mutations in <jats:italic>SCARB2<\/jats:italic> might account for unsolved cases of progressive myoclonus epilepsy (PME) without renal impairment, especially those resembling Unverricht\u2010Lundborg disease (ULD). Additionally, we searched for mutations in the <jats:italic>PRICKLE1<\/jats:italic> gene, newly recognized as a cause of PME mimicking ULD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We reviewed cases of PME referred for diagnosis over two decades in which a molecular diagnosis had not been reached. Patients were classified according to age of onset, clinical pattern, and associated neurological signs into \u201cULD\u2010like\u201d and \u201cnot ULD\u2010like.\u201d After exclusion of mutations in cystatin B (CSTB), DNA was examined for sequence variation in <jats:italic>SCARB2<\/jats:italic> and <jats:italic>PRICKLE1<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of 71 cases evaluated, 41 were \u201cULD\u2010like\u201d and five had <jats:italic>SCARB2<\/jats:italic> mutations. None of 30 \u201cnot ULD\u2010like\u201d cases were positive. The five patients with <jats:italic>SCARB2<\/jats:italic> mutations had onset between 14 and 26 years of age, with no evidence of renal failure during 5.5 to 15 years of follow\u2010up; four were followed until death. One living patient had slight proteinuria. A subset of 25 cases were sequenced for <jats:italic>PRICKLE1<\/jats:italic> and no mutations were found.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Mutations in <jats:italic>SCARB2<\/jats:italic> are an important cause of hitherto unsolved cases of PME resembling ULD at onset. <jats:italic>SCARB2<\/jats:italic> should be evaluated even in the absence of renal involvement. Onset is in teenage or young adult life. Molecular diagnosis is important for counseling the patient and family, particularly as the prognosis is worse than classical ULD. Ann Neurol 2009;66:532\u2013536<\/jats:p><\/jats:sec>","DOI":"10.1002\/ana.21765","type":"journal-article","created":{"date-parts":[[2009,6,22]],"date-time":"2009-06-22T16:38:54Z","timestamp":1245688734000},"page":"532-536","source":"Crossref","is-referenced-by-count":87,"title":["<i>SCARB2<\/i> mutations in progressive myoclonus epilepsy (PME) without renal failure"],"prefix":"10.1002","volume":"66","author":[{"given":"L.M.","family":"Dibbens","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Michelucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Gambardella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Andermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Rubboli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.A.","family":"Bayly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Joensuu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.F.","family":"Vears","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Franceschetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Canafoglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Wallace","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.G.","family":"Bassuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.A.","family":"Power","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.A.","family":"Tassinari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Andermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.E.","family":"Lehesjoki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.F.","family":"Berkovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,10,8]]},"reference":[{"key":"e_1_2_6_2_2","first-page":"2525","volume-title":"Epilepsy: a comprehensive textbook","author":"Berkovic SF","year":"2008"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2008.01546.x"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/cdg338"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.10.003"},{"issue":"4","key":"e_1_2_6_6_2","first-page":"28","article-title":"Unverricht\u2010Lundborg phenotype not linked to EPM1 gene in Italian families: genetic heterogeneity or new disease entities?","volume":"37","author":"Tassinari CA","year":"1996","journal-title":"Epilepsia"},{"key":"e_1_2_6_7_2","series-title":"Myoclonus. 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