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FBXO7defects cause a levodopa\u2010responsive parkinsonian\u2010pyramidal syndrome(PPS). Methods: We investigated the disease molecular bases in a child with PPS and brain iron accumulation. Results: A novel homozygous c.368C&gt;G (p.S123*) FBXO7 mutation was identified in a child with spastic paraplegia, epilepsy, cerebellar degeneration, levodopa nonresponsive parkinsonism, and brain iron deposition. Patient\u2019s fibroblasts assays demonstrated an absence of FBXO7 RNA expression leading to impaired proteasome degradation and accumulation of poly\u2010ubiquitinated proteins. Conclusion: This novel FBXO7 phenotype associated with impaired proteasome activity overlaps with neurodegeneration with brain iron accumulation disorders.<\/jats:p>","DOI":"10.1002\/acn3.51095","type":"journal-article","created":{"date-parts":[[2020,8,7]],"date-time":"2020-08-07T02:15:39Z","timestamp":1596766539000},"page":"1436-1442","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Impaired proteasome activity and neurodegeneration with brain iron accumulation in <i>FBXO7<\/i> defect"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6255-5197","authenticated-orcid":false,"given":"Marta","family":"Correa\u2010Vela","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology Hospital Universitari Vall d\u2019Hebron, Vall d\u00b4Hebron Institut de Recerca Barcelona Spain"},{"name":"Universitat Aut\u00f2noma de Barcelona Barcelona 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