Clinical characteristics in non-DYT1 and non-DYT6 primary dystonia: comparison between American and Brazilian patients

• Grant number: 13/11702-6
• Support type: Scholarships abroad - Research
• Effective date (Start): August 05, 2013
• Effective date (End): June 04, 2014
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Anelyssa Cysne Frota D'Abreu
• Grantee: Anelyssa Cysne Frota D'Abreu
• Host: Nutan Sharma
• Home Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
• Local de pesquisa : Harvard University, Boston, United States
• Associated research grant: 10/11085-9 - Clinical, genetical and neuroimaging evaluation of dystonias in the brazilian population, AP.JP

Abstract

Dystonia is a hyperkinetic disorder characterized by repetitive, involuntary contractions of agonists and antagonists, producing torsional postures or movements. The primary torsion dystonias (PTD) are characterized by dystonia, not associated with any other neurological symptoms and signs (except for tremor). In early onset PTDs, several mutations with various patterns of inheritance have been described. DYT1 and DYT6 are the most frequent. In the late onset PTDs there is no clear genetic defect, but at least 25% of patients have a positive family history. To date, nearly 100 patients have been enrolled in our study with PTDs in our center, in which 80 were negative for the DYT1 and DYT6 mutations. Since the inception of the current Young Researchers Project, we intended to develop a cooperative project between our center and the Dystonia Clinical Center, located at the Massachusetts General Hospital (MGH), under the supervision of Dr. Nutan Sharma. At this moment, our goals are to compare the clinical characteristics between a Brazilian and North-American sample with primary dystonia, negative for both DYT1 and DYT6. Second, we would like to identify clinical subgroups of patients for the development of a custom panel for diagnostic genetic testing for Brazilian patients with dystonia, according to the identification of the most prevalent mutations in this population. Finally, we would like to clinically characterize patients with early-onset, DYT1 and DYT6 negative PTD patients in both populations, compared with patients positive for these mutations. (AU)