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...

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Bibliographic Details
Published in:Journal of neuroimaging 2015-07, Vol.25 (4), p.539-551
Main Authors: Amaral, Lázaro L. F., Gaddikeri, Santhosh, Chapman, Philip R., Roy, Rasmoni, Gaddikeri, Ramya S., Marussi, Victor Hugo, Bag, Asim K.
Format: Article
Language:English
Subjects:
BPAN
Brain - pathology
Genetic Predisposition to Disease - genetics
Humans
Image Enhancement - methods
imaging
Iron Overload - diagnosis
Iron Overload - genetics
Magnetic Resonance Imaging - methods
MPAN
MRI
NBIA
Neurodegeneration
Neurodegenerative Diseases - diagnosis
Neurodegenerative Diseases - genetics
Neuroimaging
PKAN
PLAN
SENDA
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Summary: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.
ISSN:1051-2284
1552-6569
DOI:10.1111/jon.12195