Clinical, genetical and neuroimaging evaluation of dystonias in the brazilian population

• Grant number: 10/11085-9
• Support Opportunities: Research Grants - Young Investigators Grants
• Start date: February 01, 2011
• End date: January 31, 2015
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Anelyssa Cysne Frota D'Abreu
• Grantee: Anelyssa Cysne Frota D'Abreu
• Host Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
• Associated researchers: Fernando Cendes ; Iscia Teresinha Lopes Cendes
• Associated scholarship(s): 13/11702-6 - Clinical characteristics in non-DYT1 and non-DYT6 primary dystonia: comparison between American and Brazilian patients, BE.PQ

Abstract

Dystonia is characterized by sustained muscle contractions, leading to twisting movements and abnormal postures, which can affect any part of the body. Several causes are known and they are classified into primary (dystonia is the only or the dominant neurologic symptom), or secondary to other patologies in the central nervous system. Several genetic syndromes have been recognized in the primary dystonias. However, the incidence, prevalence and genetic profile of the primary dystonias in our population is not known. There is also a need for better neuroimaging data in the primary dystonias, specially related to phenotype, genotype, disease duration and treatment. In this study, we intend to characterize the dystonic syndromes in a large referal Movement Disorders Clinic, through sistematic evaluation of the clinical, genetic and neuroimaging aspects. This project is also the first step towards future larger colaborative studies, including international ones, which could provide further understading of the physiopathology of the primary dystonias. In addittion, this project heralds the beginning of a new research group in the multimodal evaluation of Movement Disorders. This new group is part of the Neurology Department-State University of Campinas, the Movement Disorders Clinic, the Neuroimaging Laboratory and the Molecular Genetics Laboratory. (AU)

Scientific publications

(5)

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

VILANY, LARISSA; DE REZENDE, THIAGO J. R.; PIOVESANA, LUIZA G.; CAMPOS, LIDIANE S.; DE AZEVEDO, PAULA C.; TORRES, FABIO R.; FRANCA, JR., MARCONDES C.; AMATO-FILHO, AUGUSTO C.; LOPES-CENDES, ISCIA; CENDES, FERNANDO; et al. Exploratory structural assessment in craniocervical dystonia: Global and differential analyses. PLoS One, v. 12, n. 8, AUG 22 2017. (13/07559-3, 13/13270-6, 10/11085-9)

PICCININ, CAMILA C.; PIOYESANA, LUIZA G.; SANTOS, MARIA C. A.; GUIMARAES, RACHEL P.; DE CAMPOS, BRUNNO M.; REZENDE, THIAGO J. R.; CAMPOS, LIDIANE S.; TORRES, FABIO R.; AMATO-FILHO, AUGUSTO C.; FRANCA, JR., MARCONDES C.; et al. Diffuse decreased gray matter in patients with idiopathic craniocervical dystonia: a voxel-based morphometry study. FRONTIERS IN NEUROLOGY, v. 5, JAN 8 2015. (10/11085-9)

PINHEIRO, GIORDANNA L. S.; GUIMARAES, RACHEL P.; PIOVESANA, LUIZA G.; CAMPOS, BRUNNO M.; CAMPOS, LIDIANE S.; AZEVEDO, PAULA C.; TORRES, FABIO R.; AMATO-FILHO, AUGUSTO C.; FRANCA, JR., MARCONDES C.; LOPES-CENDES, ISCIA; et al. White Matter Microstructure in Idiopathic Craniocervical Dystonia. TREMOR AND OTHER HYPERKINETIC MOVEMENTS, v. 5, 2015. (10/11085-9)

PINHEIRO, GIORDANNA L. S.; GUIMARAES, RACHEL P.; PIOVESANA, LUIZA G.; CAMPOS, BRUNNO M.; CAMPOS, LIDIANE S.; AZEVEDO, PAULA C.; TORRES, FABIO R.; AMATO-FILHO, AUGUSTO C.; FRANCA, JR., MARCONDES C.; LOPES-CENDES, ISCIA; et al. White Matter Microstructure in Idiopathic Craniocervical Dystonia. TREMOR AND OTHER HYPERKINETIC MOVEMENTS, 2015. (10/11085-9)

PIOVESANA, L. G.; TORRES, F. R.; AZEVEDO, P. C.; AMARAL, T. P.; LOPES-CENDES, I.; D'ABREU, A.. New THAP1 mutation and role of putative modifier in TOR1A. ACTA NEUROLOGICA SCANDINAVICA, v. 135, n. 2, p. 183-188, FEB 2017. (10/11085-9)