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Neurodegeneration with brain iron accumulation (NBIA) includes pantothenate kinase-associated neurodegeneration (PKAN, NBIA1), PLA2G6-associated neurodegeneration (PLAN, NBIA2), neuroferritinopathy, aceruloplasminemia, and MIN-associated neurodegeneration (MPAN).1 Clinically, they can have similar presentation, with a combination of progressive extrapyramidal, cognitive, and bulbar features.1 Since genetic testing is costly and not easily accessible, MRI clues, such as the eye of the tiger sign for PKAN,2,3 are useful to guide the confirmatory genetic analyses. Herein, we describe a distinct imaging pattern of cortical iron deposition on susceptibility-weighted MRI (SWI) in genetically proven cases of neuroferritinopathy, which is not seen in genetically proven cases of PKAN or PLAN, the 2 most common forms of NBIA.
Footnotes
Author contributions: Amit Batla: study concept and design, acquisition of data, analysis and interpretation. Matthew E. Adams: acquisition of data, analysis and interpretation, critical revision of the manuscript for important intellectual content. Roberto Erro: analysis and interpretation, critical revision of the manuscript for important intellectual content. Christos Ganos: analysis and interpretation, critical revision of the manuscript for important intellectual content. Bettina Balint: analysis and interpretation, critical revision of the manuscript for important intellectual content. Niccolo E. Mencacci: acquisition of data, analysis and interpretation, critical revision of the manuscript for important intellectual content. Kailash P. Bhatia: study concept and design, acquisition of data, analysis and interpretation, critical revision of the manuscript for important intellectual content, study supervision.
Study funding: No targeted funding reported.
Disclosure: A. Batla and M. Adams report no disclosures relevant to the manuscript. R. Erro has been partly supported by COST Action BM1101 (reference: ECOST-STSM-BM1101-160913-035934) and has received travel grants by Ipsen. C. Ganos received Academic research support: Deutsche Forschungsgemeinschaft (MU1692/2-1 and GA 2031/1-1) and European Science Foundation; commercial research support: travel grants by Actelion, Ipsen, Pharm Allergan, and Merz Pharmaceuticals. B. Balint and N. Mencacci report no disclosures relevant to the manuscript. K. Bhatia receives royalties from publication of the Oxford Specialist Handbook Parkinson's Disease and Other Movement Disorders (Oxford University Press, 2008) and of Marsden's Book of Movement Disorders (Oxford University Press, 2012). He received funding for travel from GlaxoSmithKline, Orion Corporation, Ipsen, and Merz Pharmaceuticals. Go to Neurology.org for full disclosures.
- Received July 29, 2014.
- Accepted in final form December 10, 2014.
- © 2015 American Academy of Neurology
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