{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T03:39:57Z","timestamp":1788406797858,"version":"build-2803163510"},"reference-count":59,"publisher":"FapUNIFESP (SciELO)","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:p>ABSTRACT Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. This review is a diagnostic approach for NBIA cases, from clinical features and brain imaging findings to the genetic etiology.<\/jats:p>","DOI":"10.1590\/0004-282x20160080","type":"journal-article","created":{"date-parts":[[2016,7,27]],"date-time":"2016-07-27T12:30:06Z","timestamp":1469622606000},"page":"587-596","source":"Crossref","is-referenced-by-count":42,"title":["A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging"],"prefix":"10.1590","volume":"74","author":[{"given":"Rubens Paulo Ara\u00fajo","family":"Salom\u00e3o","sequence":"first","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Luiz","family":"Pedroso","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Thereza Drumond","family":"Gama","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00edvia Almeida","family":"Dutra","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo Horta","family":"Maciel","sequence":"additional","affiliation":[{"name":"Universidade Federal de Minas Gerais,  Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e9cio","family":"Godeiro-Junior","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Norte,  Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsin Fen","family":"Chien","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9lio A. 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