{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T00:57:11Z","timestamp":1791161831599,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,9,9]],"date-time":"2002-09-09T00:00:00Z","timestamp":1031529600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2003,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Blepharospasm (BSP) is a common form of primary torsion dystonia (PTD). Although most cases are sporadic, an increased familial incidence of BSP has been reported. Precisely how blepharospasm is inherited remains unclear. We report on two Italian families with adult\u2010onset focal BSP inherited as an autosomal dominant trait with reduced penetrance. None of the affected family members had the 3\u2010bp (GAG) or the 18\u2010bp deletion in the DYT1 gene. In one family, linkage analysis allowed us to exclude segregation of the disease with the known PTD loci (DYT1, DYT6, DYT7, and DYT13). These findings suggest that primary familial adult\u2010onset BSP is a distinct entity among inherited PTD and is caused by a novel, unmapped gene. \u00a9\nMovement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.10314","type":"journal-article","created":{"date-parts":[[2003,1,22]],"date-time":"2003-01-22T17:16:26Z","timestamp":1043255786000},"page":"207-212","source":"Crossref","is-referenced-by-count":35,"title":["Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene"],"prefix":"10.1002","volume":"18","author":[{"given":"Giovanni","family":"Defazio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Brancati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enza 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