Screening of Brazilian Families with Primary Dystonia Reveals a Novel THAP1 Mutation and a de Novo TOR1A GAG Deletion
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2010-12-15
Autores
Aguiar, Patricia de Carvalho 
Borges, Vanderci
Azevedo Silva, Sonia Maria
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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. (C) 2010 Movement Disorder Society
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Movement Disorders. Hoboken: Wiley-liss, v. 25, n. 16, p. 2854-2857, 2010.