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

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

Research output: Contribution to journalArticlepeer-review


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 99mTc-TRODAT-1 tracer. A single-blind trial with 600 mg 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.

Original languageEnglish
Pages (from-to)1650-1656
Number of pages7
JournalMovement Disorders
Issue number10
Publication statusPublished - Oct 1 2018


  • dopamine transporter
  • hereditary spastic paraplegia
  • parkinsonism
  • SPG11 mutations

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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