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Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion
Author(s) -
De Carvalho Aguiar Patricia,
Fuchs Tania,
Borges Vanderci,
Lamar KayMarie,
Silva Sonia Maria Azevedo,
Ferraz Henrique Ballalai,
Ozelius Laurie
Publication year - 2010
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.23133
Subject(s) - mutation , gene , genetics , dystonia , phenotype , cohort , medicine , biology , missense mutation , psychiatry
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