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JOURNAL ARTICLE
RESEARCH SUPPORT, N.I.H., EXTRAMURAL
RESEARCH SUPPORT, NON-U.S. GOV'T
REVIEW
Neurodegeneration with brain iron accumulation: a diagnostic algorithm.
Seminars in Pediatric Neurology 2012 June
The diagnosis of neurodegeneration with brain iron accumulation (NBIA) can be challenging, particularly given recent advances in NBIA genetics and clinical nosology. Although atypical cases continue to challenge physicians, by considering clinical features along with relevant neuroimaging findings, the diagnosis of NBIA can be made confidently. In addition, the identification of genetically distinct forms of NBIA allows clinicians to better provide prognostic and family counseling services to families and may have relevance in the near future as clinical trials become available. We describe a heuristic approach to NBIA diagnosis, identify important differential considerations, and demonstrate important neuroimaging features to aid in the diagnosis.
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