Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene.
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.
Defazio
Giovanni
G
Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy. gdefazio@neurol.uniba.it
Brancati
Francesco
F
Valente
Enza Maria
EM
Caputo
Viviana
V
Pizzuti
Antonio
A
Martino
Davide
D
Abbruzzese
Giovanni
G
Livrea
Paolo
P
Berardelli
Alfredo
A
Dallapiccola
Bruno
B
D000293:Adolescent; D000328:Adult; D000368:Aged; D001764:Blepharospasm / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D004422:Dystonia Musculorum Deformans / Q000235:genetics*; D005260:Female; D015870:Gene Expression / Q000235:genetics*; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008875:Middle Aged; D008967:Molecular Biology / Q000379:methods; D010375:Pedigree; D016133:Polymerase Chain Reaction
D017931:DNA Primers; D005819:Genetic Markers