| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 3090985 | Seminars in Pediatric Neurology | 2012 | 6 Pages |
Abstract
Neurodegeneration with brain iron accumulation (NBIA) encompasses at least 7 genetically distinct disorders, and additional causative genes likely await identification. Recent advances have included the characterization of new genes associated with new subtypes of NBIA and also highlighted the phenotypic heterogeneity of this class of disorders. Herein, we summarize current concepts of NBIA pathogenesis and discuss important gaps in current knowledge, outlining key questions in the field.
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Authors
Michael J. Keogh, Patrick F. Chinnery,