SPG11-related parkinsonism: Clinical profile, molecular imaging and l-dopa response
| Autor: | Ingrid, Faber, Alberto Rolim Muro, Martinez, Carlos Roberto, Martins, Maidane Luise, Maia, Juliana Pasquotto, Souza, Charles Marques, Lourenço, Wilson, Marques, Celeste, Montecchiani, Antonio, Orlacchio, Jose Luiz, Pedroso, Orlando Graziani Povoas, Barsottini, Celso Darío, Ramos, Íscia, Lopes-Cendes, Joseph H, Friedman, Bárbara Juarez, Amorim, Marcondes Cavalcante, França |
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| Rok vydání: | 2018 |
| Předmět: |
Adult
Male Tomography Scanners X-Ray Computed Neuropsychological Tests Statistics Nonparametric Antiparkinson Agents Cohort Studies Levodopa Young Adult Parkinsonian Disorders Humans Single-Blind Method hereditary spastic paraplegia dopamine transporter parkinsonism Tomography Emission-Computed Single-Photon Dopamine Plasma Membrane Transport Proteins SPG11 mutations Mental Disorders Brain Proteins Organotechnetium Compounds Middle Aged Mutation Female Cognition Disorders Tropanes |
| Zdroj: | Movement disorders : official journal of the Movement Disorder Society. 33(10) |
| ISSN: | 1531-8257 |
| Popis: | 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.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.Patients and controls underwent single-photon emission computed tomography imaging utilizingReduced 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.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. |
| Databáze: | OpenAIRE |
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