A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging

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.

Angaben zum Objekt

• Weitere Titel: Uma orientação diagnóstica para neurodegeneração com acúmulo cerebral de ferro: aspectos clínicos, genéticos e de neuroimagem
• Standort: Deutsche Nationalbibliothek Frankfurt am Main
• Umfang: Online-Ressource
• Sprache: Englisch

Verweise und Beziehungen

• Erschienen in: A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging ; volume:74 ; number:07 ; year:2016 ; pages:587-596 ; Arquivos de neuro-psiquiatria ; 74, Heft 07 (2016), 587-596

Beteiligte, Orts- und Zeitangaben

• Beteiligte Personen und Organisationen: Salomão, Rubens Paulo Araújo ; Pedroso, José Luiz ; Gama, Maria Thereza Drumond ; Dutra, Lívia Almeida ; Maciel, Ricardo Horta ; Godeiro-Junior, Clécio ; Chien, Hsin Fen ; Teive, Hélio A. G. ; Cardoso, Francisco ; Barsottini, Orlando G. P.

Weitere Informationen

• DOI: 10.1590/0004-282X20160080
• URN: urn:nbn:de:101:1-2023101912311655083680
• Rechteinformation: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Letzte Aktualisierung: 14.08.2025, 10:44 MESZ