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Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene
Author(s) -
Defazio Giovanni,
Brancati Francesco,
Valente Enza Maria,
Caputo Viviana,
Pizzuti Antonio,
Martino Davide,
Abbruzzese Giovanni,
Livrea Paolo,
Berardelli Alfredo,
Dallapiccola Bruno
Publication year - 2003
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.10314
Subject(s) - blepharospasm , penetrance , genetics , genetic linkage , dystonia , gene , disease , biology , medicine , phenotype , pathology , neuroscience
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‐onset focal BSP inherited as an autosomal dominant trait with reduced penetrance. None of the affected family members had the 3‐bp (GAG) or the 18‐bp 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‐onset BSP is a distinct entity among inherited PTD and is caused by a novel, unmapped gene. ©Movement Disorder Society