Ontology highlight
ABSTRACT:
SUBMITTER: Correa-Vela M
PROVIDER: S-EPMC7448169 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Correa-Vela Marta M Lupo Vincenzo V Montpeyó Marta M Sancho Paula P Marcé-Grau Anna A Hernández-Vara Jorge J Darling Alejandra A Jenkins Alison A Fernández-Rodríguez Sandra S Tello Cristina C Ramírez-Jiménez Laura L Pérez Belén B Sánchez-Montáñez Ángel Á Macaya Alfons A Sobrido María J MJ Martinez-Vicente Marta M Pérez-Dueñas Belén B Espinós Carmen C
Annals of clinical and translational neurology 20200806 8
FBXO7 is implicated in the ubiquitin-proteasome system and parkin-mediated mitophagy. FBXO7defects cause a levodopa-responsive parkinsonian-pyramidal syndrome(PPS).<h4>Methods</h4>We investigated the disease molecular bases in a child with PPS and brain iron accumulation.<h4>Results</h4>A novel homozygous c.368C>G (p.S123*) FBXO7 mutation was identified in a child with spastic paraplegia, epilepsy, cerebellar degeneration, levodopa nonresponsive parkinsonism, and brain iron deposition. Patient's ...[more]