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Neurodegeneration With Brain Iron Accumulation (NBIA)
Chang Yueh Ho, MD; Anne G. Osborn, MD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Pantothenate kinase-associated neurodegeneration (PKAN)
              • Infantile neuroaxonal dystrophy (INAD)
              • Neurodegeneration with brain iron accumulation (NBIA)
            • Definitions

              • Group of neurodegenerative disorders characterized by dystonia, parkinsonism, and spasticity
                • Caused by mutations in L-ferritin gene FTL1
                • All characterized by abnormal Fe accumulation in basal ganglia
                • Includes PKAN, INAD, aceruloplasminemia, etc.
                  • Lewy bodies, axonal swellings, hyperphosphorylated tau in some subtypes

            IMAGING

            • General Features

              • Imaging Recommendations

                • CT Findings

                  • MR Findings

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Gross Pathologic & Surgical Features

                          • Microscopic Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    Selected References

                                    1. Arber C et al: Insights into molecular mechanisms of disease in Neurodegeneration with Brain Iron Accumulation; unifying theories. Neuropathol Appl Neurobiol. ePub, 2015
                                    2. Dusek P et al: Wilson disease and other neurodegenerations with metal accumulations. Neurol Clin. 33(1):175-204, 2015
                                    3. Hogarth P: Neurodegeneration with brain iron accumulation: diagnosis and management. J Mov Disord. 8(1):1-13, 2015
                                    4. Levi S et al: Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism. Neurobiol Dis. ePub, 2015
                                    5. Miyajima H: Aceruloplasminemia. Neuropathology. 35(1):83-90, 2015
                                    6. Vroegindeweij LH et al: Aceruloplasminemia: neurodegeneration with brain iron accumulation (NBIA) associated with parkinsonism. J Inherit Metab Dis. 38(2):375-6, 2015
                                    7. Amaral LL et al: Neurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis. J Neuroimaging. ePub, 2014
                                    8. Gregory A et al: Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet. 46(2):73-80, 2009
                                    9. Gregory A et al: Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology. 71(18):1402-9, 2008
                                    10. Kurian MA et al: Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology. 70(18):1623-9, 2008
                                    11. McNeill A et al: T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology. 70(18):1614-9, 2008
                                    12. Hartig MB et al: Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol. 59(2):248-56, 2006
                                    13. Hayflick SJ et al: Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations. AJNR Am J Neuroradiol. 27(6):1230-3, 2006
                                    14. Matarin MM et al: PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease. Neurosci Lett. 407(2):162-5, 2006
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Terminology

                                      • Imaging

                                        • Pathology

                                          • Clinical Issues

                                            • Diagnostic Checklist

                                              TERMINOLOGY

                                              • Abbreviations

                                                • Pantothenate kinase-associated neurodegeneration (PKAN)
                                                • Infantile neuroaxonal dystrophy (INAD)
                                                • Neurodegeneration with brain iron accumulation (NBIA)
                                              • Definitions

                                                • Group of neurodegenerative disorders characterized by dystonia, parkinsonism, and spasticity
                                                  • Caused by mutations in L-ferritin gene FTL1
                                                  • All characterized by abnormal Fe accumulation in basal ganglia
                                                  • Includes PKAN, INAD, aceruloplasminemia, etc.
                                                    • Lewy bodies, axonal swellings, hyperphosphorylated tau in some subtypes

                                              IMAGING

                                              • General Features

                                                • Imaging Recommendations

                                                  • CT Findings

                                                    • MR Findings

                                                      DIFFERENTIAL DIAGNOSIS

                                                        PATHOLOGY

                                                        • General Features

                                                          • Gross Pathologic & Surgical Features

                                                            • Microscopic Features

                                                              CLINICAL ISSUES

                                                              • Presentation

                                                                • Demographics

                                                                  • Natural History & Prognosis

                                                                    • Treatment

                                                                      Selected References

                                                                      1. Arber C et al: Insights into molecular mechanisms of disease in Neurodegeneration with Brain Iron Accumulation; unifying theories. Neuropathol Appl Neurobiol. ePub, 2015
                                                                      2. Dusek P et al: Wilson disease and other neurodegenerations with metal accumulations. Neurol Clin. 33(1):175-204, 2015
                                                                      3. Hogarth P: Neurodegeneration with brain iron accumulation: diagnosis and management. J Mov Disord. 8(1):1-13, 2015
                                                                      4. Levi S et al: Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism. Neurobiol Dis. ePub, 2015
                                                                      5. Miyajima H: Aceruloplasminemia. Neuropathology. 35(1):83-90, 2015
                                                                      6. Vroegindeweij LH et al: Aceruloplasminemia: neurodegeneration with brain iron accumulation (NBIA) associated with parkinsonism. J Inherit Metab Dis. 38(2):375-6, 2015
                                                                      7. Amaral LL et al: Neurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis. J Neuroimaging. ePub, 2014
                                                                      8. Gregory A et al: Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet. 46(2):73-80, 2009
                                                                      9. Gregory A et al: Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology. 71(18):1402-9, 2008
                                                                      10. Kurian MA et al: Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology. 70(18):1623-9, 2008
                                                                      11. McNeill A et al: T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology. 70(18):1614-9, 2008
                                                                      12. Hartig MB et al: Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol. 59(2):248-56, 2006
                                                                      13. Hayflick SJ et al: Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations. AJNR Am J Neuroradiol. 27(6):1230-3, 2006
                                                                      14. Matarin MM et al: PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease. Neurosci Lett. 407(2):162-5, 2006