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Title: Screening of Brazilian Families with Primary Dystonia Reveals a Novel THAP1 Mutation and a de Novo TOR1A GAG Deletion
Authors: Aguiar, Patricia de Carvalho [UNIFESP]
Fuchs, Tania
Borges, Vanderci [UNIFESP]
Lamar, Kay-Marie
Azevedo Silva, Sonia Maria [UNIFESP]
Ferraz, Henrique Ballalai [UNIFESP]
Ozelius, Laurie
Universidade Federal de São Paulo (UNIFESP)
Inst Israelita Ensino & Pesquisa Albert Einstein
Mt Sinai Sch Med
Keywords: dystonia
de novo mutation
Issue Date: 15-Dec-2010
Publisher: Wiley-Blackwell
Citation: Movement Disorders. Hoboken: Wiley-liss, v. 25, n. 16, p. 2854-2857, 2010.
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. (C) 2010 Movement Disorder Society
ISSN: 0885-3185
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