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Brazilian network for dystonia studies

Grant number: 10/19206-0
Support type:Regular Research Grants
Duration: July 01, 2011 - June 30, 2013
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal researcher:Patrícia Maria de Carvalho Aguiar
Grantee:Patrícia Maria de Carvalho Aguiar
Home Institution: Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE). Sociedade Beneficente Israelita Brasileira Albert Einstein (SBIBAE). São Paulo , SP, Brazil
Assoc. researchers:André Carvalho Felício ; Carlos Frederico Leite de Souza Lima ; Carlos Henrique Camargo ; Claudia Cristina Ferreiro de Barros ; Clécio de Oliveira Godeiro Júnior ; Egberto Reis Barbosa ; Elizabeth Maria Aparecida Barasnevicius Quagliato ; Grace Helena Letro ; Hélio Afonso Ghizoni Teive ; Henrique Ballalai Ferraz ; Marcelo Ramos Muniz ; Maria Sheila Guimarães Rocha ; Mônica Santoro Haddad ; Orlando Graziani Povoas Barsottini ; Roberta Arb Saba Rodrigues Pinto ; Sonia Maria Cesar de Azevedo Silva Moura Magalhaes Gomes ; Vanderci Borges ; Vitor Tumas

Abstract

Dystonia is a syndrome characterized by involuntary and sustained muscle contractions, leading to twisting repetitive movements and/or abnormal postures. It may start at any age, the most aggressive forms start in infancy, leaving the patient severely handicapped or leading to premature death. The adult-onset forms can be as disabling as the early-onset ones, bringing difficulties in walking, writing, communication, vision, chronic pain and leading the patients to early retirement and social isolation. To date, there is no curative treatment for dystonia. Part of the patients is directed to high cost treatments at the public health system, such as botulinum toxin, which has a partial and temporary effect and is not always able to lead to a complete functional reestablishment. Part of the dystonias have a genetic basis. In recent years, several genes related to this syndrome have been identified, and brought in new knowledge to the disease pathophysiology. In Brazil there are no national epidemiologic studies defining the clinical and molecular profile of dystonia patients. This characterization is important to determine the functional disability level of our patients, as well as the main genetic variations in our population, once specific treatments become available. A national network for the study of dystonia will enable us to establish the Brazilian patients' profile and to build a database allowing for rapid recruitment of patients when new clinical trials become available. Our short term goal is to establish a permanent network for the study of dystonias, characterizing the nationwide clinical and molecular profile of the Brazilian patients, and to transfer knowledge in the field of molecular genetics of dystonias. Our long term goal is to identify new genes involved in dystonia and to establish a solid database of dystonic patients, which would enable us to rapidly recruit patients for future epidemiological and clinical trials, such as scale validations and new therapeutic response analysis, as well as for molecular studies. (AU)

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Scientific publications
(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)
DOS SANTOS, CAMILA OLIVEIRA; MASUHO, IKUO; DA SILVA-JUNIOR, FRANCISCO PEREIRA; BARBOSA, EGBERTO REIS; CESAR AZEVEDO SILVA, SONIA MARIA; BORGES, VANDERCI; FERRAZ, HENRIQUE BALLALAI; GUIMARAES ROCHA, MARIA SHEILA; PAPATERRA LIMONGI, JOAO CARLOS; MARTEMYANOV, KIRILL A.; AGUIAR, PATRICIA DE CARVALHO. Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function. JOURNAL OF NEUROLOGY, v. 263, n. 4, p. 665-668, APR 2016. Web of Science Citations: 6.
DA SILVA-JUNIOR, FRANCISCO PEREIRA; DOS SANTOS, CAMILA OLIVEIRA; CESAR AZEVEDO SILVA, SONIA MARIA; BARBOSA, EGBERTO REIS; BORGES, VANDERCI; FERRAZ, HENRIQUE BALLALAI; PAPATERRA LIMONGI, JOAO CARLOS; GUIMARAES ROCHA, MARIA SHEILA; AGUIAR, PATRICIA DE CARVALHO. Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia. JOURNAL OF THE NEUROLOGICAL SCIENCES, v. 344, n. 1-2, p. 190-192, SEP 15 2014. Web of Science Citations: 8.

Please report errors in scientific publications list by writing to: cdi@fapesp.br.