title: Neurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis.
abstract: Discovery of genetic abnormalities associated with neurodegeneration with brain iron accumulation (NBIA) has led to use of a genetic-based NBIA classification schema. Most NBIA subtypes demonstrate characteristic imaging abnormalities. While clinical diagnosis of NBIA is difficult, analysis of both clinical findings and characteristic imaging abnormalities allows accurate diagnosis of most of the NBIA subtypes. This article reviews recent updates in the genetic, clinical, and imaging findings of NBIA subtypes and provides a practical step-by-step clinicoradiological algorithm toward clinical diagnosis of different NBIA subtypes.
authors.affiliation: Department of Radiology, Medimagem - Hospital da Beneficência Portuguesa, São Paulo, Brazil.|Department of Radiology, Santa Casa de Misericordia of Sao Paulo, Brazil.
authors.forename: Lázaro L F
authors.initials: LL
authors.lastname: Amaral
authors.affiliation: Department of Radiology, University of Washington, Seattle, WA.
authors.forename: Santhosh
authors.initials: S
authors.lastname: Gaddikeri
authors.affiliation: Department of Radiology, University of Alabama at Birmingham, Birmingham, AL.
authors.forename: Philip R
authors.initials: PR
authors.lastname: Chapman
authors.affiliation: Department of Neurology, University of Tennessee Health Sciences Center, Memphis, TN.
authors.forename: Rasmoni
authors.initials: R
authors.lastname: Roy
authors.affiliation: Department of Radiology, Rush University, Chicago, IL.
authors.forename: Ramya S
authors.initials: RS
authors.lastname: Gaddikeri
authors.affiliation: Department of Radiology, Medimagem - Hospital da Beneficência Portuguesa, São Paulo, Brazil.
authors.forename: Victor Hugo
authors.initials: VH
authors.lastname: Marussi
authors.affiliation: Department of Radiology, University of Alabama at Birmingham, Birmingham, AL.
authors.forename: Asim K
authors.initials: AK
authors.lastname: Bag
mesh_terms: D001921:Brain / Q000473:pathology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007089:Image Enhancement / Q000379:methods; D019190:Iron Overload / Q000175:diagnosis* / Q000235:genetics*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D019636:Neurodegenerative Diseases / Q000175:diagnosis* / Q000235:genetics*
keywords: BPAN; MPAN; MRI; NBIA; PKAN; PLAN; SENDA; imaging