Navegando por Palavras-chave "DYT6"

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    Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia
    (Elsevier B.V., 2014-09-15) Silva-Junior, Francisco Pereira da; Santos, Camila Oliveira dos; Cesar Azevedo Silva, Sonia Maria [UNIFESP]; Barbosa, Egberto Reis; Borges, Vanderci [UNIFESP]; Ferraz, Henrique Ballalai [UNIFESP]; Papaterra Limongi, Joao Carlos; Guimaraes Rocha, Maria Sheila; Aguiar, Patricia de Carvalho [UNIFESP]; Universidade de São Paulo (USP); Hosp Israelita Albert Einstein; Hosp Servidor Publ Estadual; Universidade Federal de São Paulo (UNIFESP); Hosp Santa Marcelina
    THAP1 mutations are associated with idiopathic isolated dystonia in different ethnicities, but the importance of this gene as a cause of dystonia in the Brazilian population has not been determined. the aim of this study was to investigate the prevalence of THAP1 variants in Brazilian patients with idiopathic dystonia and to describe their clinical characteristics including non-motor symptoms. One hundred and ten unrelated patients with non-TOR1A (DYT1) idiopathic isolated dystonia and family members were evaluated and screened for genetic variants. Variants with a potential pathological role were observed in 9.0% of families studied, of which four were novel. the variants were identified in approximately 12% of patients with the age of onset below 40 years. in most of the patients, the onset of the disease was before early adulthood. the upper limb was the most common site of the onset, and approximately half of the patients had dysphonia. Pain, anxiety, and sleep-onset insomnia were the most prevalent non-motor symptoms, and their prevalence was not different from that observed in THAP1-negative patients. Therefore, THAP1 variants are an important cause of dystonia among individuals with an early-onset disease and a positive family history. the phenotypical heterogeneity among patients carrying similar variants shows that other factors may be modulating the disease. (C) 2014 Elsevier B.V. All rights reserved.
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    Screening of Brazilian Families with Primary Dystonia Reveals a Novel THAP1 Mutation and a de Novo TOR1A GAG Deletion
    (Wiley-Blackwell, 2010-12-15) 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
    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