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)
Articles published in Agência FAPESP Newsletter about the research grant:
DA SILVA-JUNIOR, FRANCISCO PEREIRA;
DOS SANTOS, CAMILA OLIVEIRA;
CESAR AZEVEDO SILVA, SONIA MARIA;
BARBOSA, EGBERTO REIS;
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,
SEP 15 2014.
Web of Science Citations: 8.
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