Screening of Brazilian Families with Primary Dystonia Reveals a Novel THAP1 Mutation and a de Novo TOR1A GAG Deletion

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dc.contributor.authorAguiar, Patricia de Carvalho [UNIFESP]
dc.contributor.authorFuchs, Tania
dc.contributor.authorBorges, Vanderci [UNIFESP]
dc.contributor.authorLamar, Kay-Marie
dc.contributor.authorAzevedo Silva, Sonia Maria [UNIFESP]
dc.contributor.authorFerraz, Henrique Ballalai [UNIFESP]
dc.contributor.authorOzelius, Laurie
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionInst Israelita Ensino & Pesquisa Albert Einstein
dc.contributor.institutionMt Sinai Sch Med
dc.date.accessioned2016-01-24T14:05:49Z
dc.date.available2016-01-24T14:05:49Z
dc.date.issued2010-12-15
dc.description.abstractThe 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 Societyen
dc.description.affiliationUniversidade Federal de São Paulo, Dept Neurol & Neurosurg, BR-04023900 São Paulo, Brazil
dc.description.affiliationInst Israelita Ensino & Pesquisa Albert Einstein, São Paulo, Brazil
dc.description.affiliationMt Sinai Sch Med, Dept Genet & Genom Sci, New York, NY USA
dc.description.affiliationMt Sinai Sch Med, Dept Neurol, New York, NY USA
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Neurol & Neurosurg, BR-04023900 São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent2854-2857
dc.identifierhttp://dx.doi.org/10.1002/mds.23133
dc.identifier.citationMovement Disorders. Hoboken: Wiley-liss, v. 25, n. 16, p. 2854-2857, 2010.
dc.identifier.doi10.1002/mds.23133
dc.identifier.issn0885-3185
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/33169
dc.identifier.wosWOS:000285979200021
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofMovement Disorders
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.rights.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.subjectdystoniaen
dc.subjectDYT1en
dc.subjectTOR1Aen
dc.subjectDYT6en
dc.subjectTHAP1en
dc.subjectde novo mutationen
dc.titleScreening of Brazilian Families with Primary Dystonia Reveals a Novel THAP1 Mutation and a de Novo TOR1A GAG Deletionen
dc.typeinfo:eu-repo/semantics/article
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