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GCH1 molecular analysis in dopa responsive dystonia

Grant number: 13/09867-7
Support Opportunities:Scholarships in Brazil - Scientific Initiation
Effective date (Start): July 01, 2013
Effective date (End): December 31, 2013
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal Investigator:Patrícia Maria de Carvalho Aguiar
Grantee:Camila Oliveira dos Santos Alves
Host Institution: Hospital Israelita Albert Einstein. Sociedade Beneficente Israelita Brasileira Albert Einstein (SBIBAE). São Paulo , SP, Brazil

Abstract

Dopa responsive dystonia (DRD) linked to the DYT5 locus is an autosomal dominant inherited disorder caused by mutations in the GCH1 gene. It is characterized by onset during childhood, with gate disorder due to dystonia plus parkinsonian symptoms, with excellent response to levodopa. Not infrequently DRD is misdiagnosed as cerebral palsy, delaying the treatment, which can lead to important motor sequelae. Several mutations have been described in GCH1, but such studies are rare in Brazil. Molecular diagnosis can help to clarify those cases where clinical features are not so clear. In this work, we aim to establish molecular techniques to investigate GCH1 mutations in DDR patients. Patients from both genders with clinical diagnoses of DDR will have their genomic DNA extracted from peripheral blood. Mutations will be investigated with direct sequencing and gene dosage with real-time PCR. Results will be compared with those in the literature and correlated to the clinical phenotype. (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)
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, . (13/09867-7, 10/19206-0)
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.; et al. 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, . (13/09867-7, 10/19206-0, 14/17128-2)

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