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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

SPG11-related parkinsonism: Clinical profile, molecular imaging and l-dopa response

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Faber, Ingrid [1] ; Muro Martinez, Alberto Rolim [1] ; Martins, Jr., Carlos Roberto [1] ; Maia, Maidane Luise [2] ; Souza, Juliana Pasquotto [2] ; Lourenco, Charles Marques [3] ; Marques, Jr., Wilson [3] ; Montecchiani, Celeste [4] ; Orlacchio, Antonio [5, 4] ; Pedroso, Jose Luiz [6] ; Povoas Barsottini, Orlando Graziani [6] ; Ramos, Celso Dario [2] ; Lopes-Cendes, Iscia [7] ; Friedman, Joseph H. [8, 9] ; Amorim, Barbara Juarez [2] ; Franca, Jr., Marcondes Cavalcante [1]
Número total de Autores: 16
Afiliação do(s) autor(es):
[1] Univ Estadual Campinas, Dept Neurol, R Tessalia Vieira de Camargo 126, BR-13083887 Campinas, SP - Brazil
[2] Univ Estadual Campinas, Div Nucl Med, Dept Radiol, Campinas, SP - Brazil
[3] Univ Sao Paulo USP RP, Dept Neurol, Ribeirao Preto - Brazil
[4] Ist Ricovero & Cura Carattere Sci IRCCS Santa Luc, Lab Neurogenet, CERC, Rome - Italy
[5] Univ Perugia, Dipartimento Sci Chirurg & Biomed, Perugia - Italy
[6] Fed Univ Sao Paulo UNIFESP, Dept Neurol, Sao Paulo - Brazil
[7] Univ Estadual Campinas, Dept Med Genet, Campinas, SP - Brazil
[8] Brown Univ, Butler Hosp, Dept Neurol, Providence, RI 02912 - USA
[9] Brown Univ, Warren Alpert Med Sch, Providence, RI 02912 - USA
Número total de Afiliações: 9
Tipo de documento: Artigo Científico
Fonte: MOVEMENT DISORDERS; v. 33, n. 10, p. 1650-1656, OCT 2018.
Citações Web of Science: 1
Resumo

Background: Molecular imaging has proven to be a powerful tool to elucidate degenerated paths in a wide variety of neurological diseases and has not been systematically studied in hereditary spastic paraplegias. Objectives: To investigate dopaminergic degeneration in a cohort of 22 patients with hereditary spastic paraplegia attributed to SPG11 mutations and evaluate treatment response to l-dopa. Methods: Patients and controls underwent single-photon emission computed tomography imaging utilizing Tc-99m-TRODAT-1 tracer. A single-blind trial with 600mg of l-dopa was performed comparing UPDRS scores. Results: Reduced dopamine transporter density was universal among patients. Nigral degeneration was symmetrical and correlated with disease duration and motor and cognitive handicap. No statistically significant benefit could be demonstrated with l-dopa intake during the trial. Conclusion: Disruption of presynaptic dopaminergic pathways is a widespread phenomenon in patients with SPG11 mutations, even in the absence of parkinsonism. Unresponsiveness to treatment could be related to postsynaptic damage that needs to be further investigated. (AU)

Processo FAPESP: 13/01766-7 - Contribuição ao diagnóstico, à fisiopatologia e à terapêutica das neuronopatias sensitivas
Beneficiário:Marcondes Cavalcante Franca Junior
Linha de fomento: Auxílio à Pesquisa - Apoio a Jovens Pesquisadores