Article
New THAP1 mutation and role of putative modifier in TOR1A.
Acta neurologica Scandinavica - 1 Feb 2017
Piovesana L G, Torres F R, Azevedo P C, Amaral T P, Lopes-Cendes I, D'Abreu A
Abstract excerpt
OBJECTIVES: The prevalence of DYT1 (mutation in TOR1A) and DYT6 (mutation in THAP1) may vary in different populations, which can have important implications in clinical investigation. Our goal was to characterize patients with inherited and isolated dystonia and determine the frequency of mutations responsible for DYT1 and DYT6 in Brazilian patients. METHODS: Two movement disorder specialists examined 78 patients...
Topics
- Adult
- Apoptosis Regulatory Proteins
- Brazil
- Cohort Studies
- Cross-Sectional Studies
- DNA-Binding Proteins
- Dystonia
- Female
- Humans
- Male
- Middle Aged
- Molecular Chaperones