Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia

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

Research output: Contribution to journalArticle

Abstract

We report on an Italian kindred with adult-onset primary torsion dystonia (PTD). A detailed clinical examination of the six definitely affected family members revealed a mild, purely focal phenotype. The disease involved only one body part (eyes, neck, or arm). PTD in this family was not linked to the known disease loci (DYT1, DYT6, DYT7, and DYT13), and the 3-bp deletion in the DYT1 gene was also excluded. These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family.

Original languageEnglish
Pages (from-to)392-397
Number of pages6
JournalMovement Disorders
Volume17
Issue number2
DOIs
Publication statusPublished - Mar 2002

Keywords

  • Focal dystonia
  • Genetic heterogeneity
  • Linkage analysis
  • Primary torsion dystonia

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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