Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion

✍ Scribed by Patricia De Carvalho Aguiar; Tania Fuchs; Vanderci Borges; Kay-Marie Lamar; Sonia Maria Azevedo Silva; Henrique Ballalai Ferraz; Laurie Ozelius

• Book ID: 102945516
• Publisher: John Wiley and Sons
• Year: 2010
• Tongue: English
• Weight: 958 KB
• Volume: 25
• Category: Article
• ISSN: 0885-3185
• DOI: 10.1002/mds.23133

✦ Synopsis

Abstract

The TOR1A and THAP1 genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD). We identified a de novo delGAG mutation in the TOR1A gene in a patient with a typical DYT1 phenotype and a novel c.1A > G (p.Met1?) mutation in THAP1 in a patient with early onset generalized dystonia with speech involvement. Mutations in these two known PTD genes, TOR1A and THAP1, are responsible for about 10% of the PTD cases in our Brazilian cohort suggesting genetic heterogeneity and supporting the role of other genes in PTD. © 2010 Movement Disorder Society