Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene

Giovanni Defazio, Francesco Brancati, Enza Maria Valente, Viviana Caputo, Antonio Pizzuti, Davide Martino, Giovanni Abbruzzese, Paolo Livrea, Alfredo Berardelli, Bruno Dallapiccola

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)207-212
Number of pages6
JournalMovement Disorders
Volume18
Issue number2
DOIs
Publication statusPublished - Feb 1 2003

Keywords

  • Autosomal dominant inheritance
  • Familial blepharospasm
  • Linkage analysis
  • Primary torsion dystonia

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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