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AJNR Am J Neuroradiol. 2012 Mar;33(3):407-14. doi: 10.3174/ajnr.A2677. Epub 2011 Sep 15.

Neuroimaging features of neurodegeneration with brain iron accumulation.

Author information

1
Department of Pediatrics, Sanford Children's Research Center, University of South Dakota Sanford College of Medicine, Sioux Falls, South Dakota 57104, USA. michael.kruer@sanfordhealth.org

Abstract

NBIA characterizes a class of neurodegenerative diseases that feature a prominent extrapyramidal movement disorder, intellectual deterioration, and a characteristic deposition of iron in the basal ganglia. The diagnosis of NBIA is made on the basis of the combination of representative clinical features along with MR imaging evidence of iron accumulation. In many cases, confirmatory molecular genetic testing is now available as well. A number of new subtypes of NBIA have recently been described, with distinct neuroradiologic and clinical features. This article outlines the known subtypes of NBIA, delineates their clinical and radiographic features, and suggests an algorithm for evaluation.

PMID:
21920862
DOI:
10.3174/ajnr.A2677
[Indexed for MEDLINE]
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