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Neurodegeneration With Brain Iron Accumulation (NBIA)
Surjith Vattoth, MD, FRCR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Neurodegeneration with brain iron accumulation (NBIA)
                • Pantothenate kinase-associated neurodegeneration (PKAN)
                • Phospholipase-associated neurodegeneration (PLAN)
                • Fatty acid hydroxylase-associated neurodegeneration (FAHN)
                • β-propeller protein-associated neurodegeneration (BPAN)
                • Mitochondrial membrane protein-associated neurodegeneration (MPAN)
                • Woodhouse-Sakati syndrome (WSS)
                • Kufor-Rakeb disease (KRD)
                • Aceruloplasminemia (ACP)
                • Neuroferritinopathy (NFT)
                • Coenzyme A synthase (COASY) protein-associated neurodegeneration (CoPAN)
              • Synonyms

                • PKAN: Hallervorden-Spatz syndrome
                • PLAN: Infantile neuroaxonal dystrophy (INAD) or Seitelberger disease
                  • Atypical PLAN: Atypical neuroaxonal dystrophy (ANAD)
                • BPAN: Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)
              • Definitions

                • Group of neurologic disorders with progressive extrapyramidal symptoms, intellectual impairment, & excessive brain iron deposition in MR

              IMAGING

              • General Features

                • Imaging Recommendations

                  • CT Findings

                    • MR Findings

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Gross Pathologic & Surgical Features

                            • Microscopic Features

                              CLINICAL ISSUES

                              • Presentation

                                • Treatment

                                  Selected References

                                  1. Brezavar D et al: Incidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans. Mol Genet Metab. ePub, 2019
                                  2. Christoforou S et al: Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient. Eur J Med Genet. 103765, 2019
                                  3. Dusek P et al: Brain iron and metabolic abnormalities in C19orf12 mutation carriers: a 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration. Mov Disord. 128(4):463-9, 2019
                                  4. Levi S et al: Iron pathophysiology in neurodegeneration with brain iron accumulation. Adv Exp Med Biol. 1173:153-77, 2019
                                  5. Arber C et al: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation; unifying theories. Neuropathol Appl Neurobiol. 42(3):220-41, 2016
                                  6. Amaral LL et al: Neurodegeneration with brain iron accumulation: clinicoradiological approach to diagnosis. J Neuroimaging. 25(4):539-51, 2015
                                  7. Dusek P et al: Wilson disease and other neurodegenerations with metal accumulations. Neurol Clin. 33(1):175-204, 2015
                                  8. Hogarth P: Neurodegeneration with brain iron accumulation: diagnosis and management. J Mov Disord. 8(1):1-13, 2015
                                  9. Levi S et al: Neuroferritinopathy: from ferritin structure modification to pathogenetic mechanism. Neurobiol Dis. 81:134-43, 2015
                                  10. Miyajima H: Aceruloplasminemia. Neuropathology. 35(1):83-90, 2015
                                  11. Vroegindeweij LH et al: Aceruloplasminemia: neurodegeneration with brain iron accumulation (NBIA) associated with parkinsonism. J Inherit Metab Dis. 38(2):375-6, 2015
                                  12. Gregory A et al: Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet. 46(2):73-80, 2009
                                  13. Gregory A et al: Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology. 71(18):1402-9, 2008
                                  14. Kurian MA et al: Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology. 70(18):1623-9, 2008
                                  15. McNeill A et al: T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology. 70(18):1614-9, 2008
                                  16. 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
                                  17. 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
                                  18. 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

                                      • Top Differential Diagnoses

                                        • Pathology

                                          • Clinical Issues

                                            • Diagnostic Checklist

                                              TERMINOLOGY

                                              • Abbreviations

                                                • Neurodegeneration with brain iron accumulation (NBIA)
                                                • Pantothenate kinase-associated neurodegeneration (PKAN)
                                                • Phospholipase-associated neurodegeneration (PLAN)
                                                • Fatty acid hydroxylase-associated neurodegeneration (FAHN)
                                                • β-propeller protein-associated neurodegeneration (BPAN)
                                                • Mitochondrial membrane protein-associated neurodegeneration (MPAN)
                                                • Woodhouse-Sakati syndrome (WSS)
                                                • Kufor-Rakeb disease (KRD)
                                                • Aceruloplasminemia (ACP)
                                                • Neuroferritinopathy (NFT)
                                                • Coenzyme A synthase (COASY) protein-associated neurodegeneration (CoPAN)
                                              • Synonyms

                                                • PKAN: Hallervorden-Spatz syndrome
                                                • PLAN: Infantile neuroaxonal dystrophy (INAD) or Seitelberger disease
                                                  • Atypical PLAN: Atypical neuroaxonal dystrophy (ANAD)
                                                • BPAN: Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)
                                              • Definitions

                                                • Group of neurologic disorders with progressive extrapyramidal symptoms, intellectual impairment, & excessive brain iron deposition in MR

                                              IMAGING

                                              • General Features

                                                • Imaging Recommendations

                                                  • CT Findings

                                                    • MR Findings

                                                      DIFFERENTIAL DIAGNOSIS

                                                        PATHOLOGY

                                                        • General Features

                                                          • Gross Pathologic & Surgical Features

                                                            • Microscopic Features

                                                              CLINICAL ISSUES

                                                              • Presentation

                                                                • Treatment

                                                                  Selected References

                                                                  1. Brezavar D et al: Incidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans. Mol Genet Metab. ePub, 2019
                                                                  2. Christoforou S et al: Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient. Eur J Med Genet. 103765, 2019
                                                                  3. Dusek P et al: Brain iron and metabolic abnormalities in C19orf12 mutation carriers: a 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration. Mov Disord. 128(4):463-9, 2019
                                                                  4. Levi S et al: Iron pathophysiology in neurodegeneration with brain iron accumulation. Adv Exp Med Biol. 1173:153-77, 2019
                                                                  5. Arber C et al: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation; unifying theories. Neuropathol Appl Neurobiol. 42(3):220-41, 2016
                                                                  6. Amaral LL et al: Neurodegeneration with brain iron accumulation: clinicoradiological approach to diagnosis. J Neuroimaging. 25(4):539-51, 2015
                                                                  7. Dusek P et al: Wilson disease and other neurodegenerations with metal accumulations. Neurol Clin. 33(1):175-204, 2015
                                                                  8. Hogarth P: Neurodegeneration with brain iron accumulation: diagnosis and management. J Mov Disord. 8(1):1-13, 2015
                                                                  9. Levi S et al: Neuroferritinopathy: from ferritin structure modification to pathogenetic mechanism. Neurobiol Dis. 81:134-43, 2015
                                                                  10. Miyajima H: Aceruloplasminemia. Neuropathology. 35(1):83-90, 2015
                                                                  11. Vroegindeweij LH et al: Aceruloplasminemia: neurodegeneration with brain iron accumulation (NBIA) associated with parkinsonism. J Inherit Metab Dis. 38(2):375-6, 2015
                                                                  12. Gregory A et al: Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet. 46(2):73-80, 2009
                                                                  13. Gregory A et al: Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology. 71(18):1402-9, 2008
                                                                  14. Kurian MA et al: Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology. 70(18):1623-9, 2008
                                                                  15. McNeill A et al: T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology. 70(18):1614-9, 2008
                                                                  16. 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
                                                                  17. 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
                                                                  18. 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