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PKAN
Kevin R. Moore, MD; Anna Illner, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Pantothenate kinase-associated neurodegeneration (PKAN)
              • Synonyms

                • Neurodegeneration with brain iron accumulation type 1 (NBIA-1)
                • Hallervorden-Spatz syndrome (obsolete term)
                  • PKAN and NBIA-1 = preferred terms
              • Definitions

                • Neurodegeneration with brain iron accumulation (NBIA) = umbrella term for neurodegenerative disorders characterized by brain iron accumulation
                  • Known causes include PKAN (most common), aceruloplasminemia, neuroferritinopathy, and infantile neuroaxonal dystrophy
                • PKAN caused by mutation pantothenate kinase 2 gene (PANK2)

              IMAGING

              • General Features

                • CT Findings

                  • MR Findings

                    • Nuclear Medicine Findings

                      • Imaging Recommendations

                        DIFFERENTIAL DIAGNOSIS

                          PATHOLOGY

                          • General Features

                            • Gross Pathologic & Surgical Features

                              • Microscopic Features

                                CLINICAL ISSUES

                                • Presentation

                                  • Demographics

                                    • Natural History & Prognosis

                                      • Treatment

                                        DIAGNOSTIC CHECKLIST

                                        • Image Interpretation Pearls

                                          Selected References

                                          1. Zeng J et al: Magnetic resonance imaging, susceptibility weighted imaging and quantitative susceptibility mapping findings of pantothenate kinase-associated neurodegeneration. J Clin Neurosci. 59:20-8, 2019
                                          2. Razmeh S et al: Pantothenate kinase-associated neurodegeneration: clinical aspects, diagnosis and treatments. Neurol Int. 10(1):7516, 2018
                                          3. Sharma LK et al: A therapeutic approach to pantothenate kinase associated neurodegeneration. Nat Commun. 9(1):4399, 2018
                                          4. Darling A et al: Clinical rating scale for pantothenate kinase-associated neurodegeneration: a pilot study. Mov Disord. 32(11):1620-30, 2017
                                          5. Liu Z et al: Subthalamic nuclei stimulation in patients with pantothenate kinase-associated neurodegeneration (PKAN). Neuromodulation. 20(5):484-91, 2017
                                          6. 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
                                          7. Amaral LL et al: Neurodegeneration with brain iron accumulation: clinicoradiological approach to diagnosis. J Neuroimaging. 25(4):539-51, 2015
                                          8. Dusek P et al: The neurotoxicity of iron, copper and manganese in Parkinson's and Wilson's diseases. J Trace Elem Med Biol. 31:193-203, 2015
                                          9. Dusek P et al: Wilson disease and other neurodegenerations with metal accumulations. Neurol Clin. 33(1):175-204, 2015
                                          10. Hogarth P: Neurodegeneration with brain iron accumulation: diagnosis and management. J Mov Disord. 8(1):1-13, 2015
                                          11. Ma LY et al: Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration. Clin Genet. 87(1):93-5, 2015
                                          12. Stoeter P et al: Changes of cerebral white matter in patients suffering from pantothenate kinase-associated neurodegeneration (PKaN): a diffusion tensor imaging (DTI) study. Parkinsonism Relat Disord. 21(6):577-81, 2015
                                          13. Bosemani T et al: Susceptibility-weighted imaging in pantothenate kinase-associated neurodegeneration. J Pediatr. 164(1):212, 2014
                                          14. Dezfouli MA et al: PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation. Mov Disord. 28(2):228-32, 2013
                                          15. Schipper HM: Neurodegeneration with brain iron accumulation - clinical syndromes and neuroimaging. Biochim Biophys Acta. 1822(3):350-60, 2012
                                          16. Shah SO et al: Late-onset neurodegeneration with brain iron accumulation with diffusion tensor magnetic resonance imaging. Case Rep Neurol. 4(3):216-23, 2012
                                          17. Kurian MA et al: Childhood disorders of neurodegeneration with brain iron accumulation (NBIA). Dev Med Child Neurol. 53(5):394-404, 2011
                                          18. Gregory A et al: Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet. 46(2):73-80, 2009
                                          19. Mikati MA et al: Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration. Eur J Paediatr Neurol. 13(1):61-4, 2009
                                          20. Mylius V et al: Low-frequency rTMS of the premotor cortex reduces complex movement patterns in a patient with pantothenate kinase-associated neurodegenerative disease (PKAN). Neurophysiol Clin. 39(1):27-30, 2009
                                          21. Sachin S et al: Clinical spectrum of Hallervorden-Spatz syndrome in India. J Clin Neurosci. 16(2):253-8, 2009
                                          22. Schneider SA et al: Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2 - causative or consequential? J Neurol Neurosurg Psychiatry. 80(6):589-90, 2009
                                          23. Wu YR et al: Pantothenate kinase-associated neurodegeneration in two Taiwanese siblings: identification of a novel PANK2 gene mutation. Mov Disord. 24(6):940-1, 2009
                                          24. Chan KY et al: Pantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation. Hong Kong Med J. 14(1):70-3, 2008
                                          25. Isaac C et al: Pallidal stimulation for pantothenate kinase-associated neurodegeneration dystonia. Arch Dis Child. 93(3):239-40, 2008
                                          26. Lyoo CH et al: Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration. Mov Disord. 23(2):283-4, 2008
                                          27. McNeill A et al: T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology. 70(18):1614-9, 2008
                                          28. Surguchov A: Molecular and cellular biology of synucleins. Int Rev Cell Mol Biol. 270:225-317, 2008
                                          29. Gupta R et al: Autopsy always teach and tell: neurodegeneration with brain iron accumulation: a case report. Indian J Pathol Microbiol. 50(4):792-4, 2007
                                          30. Hamani C et al: Surgery for other movement disorders: dystonia, tics. Curr Opin Neurol. 20(4):470-6, 2007
                                          31. Kazek B et al: A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication. J Child Neurol. 22(11):1256-9, 2007
                                          32. Saleheen D et al: Novel mutation in the PANK2 gene leads to pantothenate kinase-associated neurodegeneration in a Pakistani family. Pediatr Neurol. 37(4):296-8, 2007
                                          33. Shields DC et al: Pallidal stimulation for dystonia in pantothenate kinase-associated neurodegeneration. Pediatr Neurol. 37(6):442-5, 2007
                                          34. Uversky VN: Neuropathology, biochemistry, and biophysics of alpha-synuclein aggregation. J Neurochem. 103(1):17-37, 2007
                                          35. 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
                                          36. Koyama M et al: Pantothenate kinase-associated neurodegeneration with increased lentiform nuclei cerebral blood flow. AJNR Am J Neuroradiol. 27(1):212-3, 2006
                                          37. Nicholas AP et al: Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions. Mov Disord. 20(7):880-6, 2005
                                          38. Thomas M et al: Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration. Mov Disord. 19(1):36-42, 2004
                                          39. Hayflick SJ et al: Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med. 348(1):33-40, 2003
                                          40. Hayflick SJ: Related Articles et al: Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name. Curr Opin Pediatr. 15(6):572-7, 2003
                                          41. Gordon N: Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome). Eur J Paediatr Neurol. 6(5):243-7, 2002
                                          42. Swaiman KF: Hallervorden-Spatz syndrome. Pediatr Neurol. 25(2):102-8, 2001
                                          43. Dooling EC et al: Hallervorden-Spatz syndrome. Arch Neurol. 30(1):70-83, 1974
                                          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

                                                        • Pantothenate kinase-associated neurodegeneration (PKAN)
                                                      • Synonyms

                                                        • Neurodegeneration with brain iron accumulation type 1 (NBIA-1)
                                                        • Hallervorden-Spatz syndrome (obsolete term)
                                                          • PKAN and NBIA-1 = preferred terms
                                                      • Definitions

                                                        • Neurodegeneration with brain iron accumulation (NBIA) = umbrella term for neurodegenerative disorders characterized by brain iron accumulation
                                                          • Known causes include PKAN (most common), aceruloplasminemia, neuroferritinopathy, and infantile neuroaxonal dystrophy
                                                        • PKAN caused by mutation pantothenate kinase 2 gene (PANK2)

                                                      IMAGING

                                                      • General Features

                                                        • CT Findings

                                                          • MR Findings

                                                            • Nuclear Medicine Findings

                                                              • Imaging Recommendations

                                                                DIFFERENTIAL DIAGNOSIS

                                                                  PATHOLOGY

                                                                  • General Features

                                                                    • Gross Pathologic & Surgical Features

                                                                      • Microscopic Features

                                                                        CLINICAL ISSUES

                                                                        • Presentation

                                                                          • Demographics

                                                                            • Natural History & Prognosis

                                                                              • Treatment

                                                                                DIAGNOSTIC CHECKLIST

                                                                                • Image Interpretation Pearls

                                                                                  Selected References

                                                                                  1. Zeng J et al: Magnetic resonance imaging, susceptibility weighted imaging and quantitative susceptibility mapping findings of pantothenate kinase-associated neurodegeneration. J Clin Neurosci. 59:20-8, 2019
                                                                                  2. Razmeh S et al: Pantothenate kinase-associated neurodegeneration: clinical aspects, diagnosis and treatments. Neurol Int. 10(1):7516, 2018
                                                                                  3. Sharma LK et al: A therapeutic approach to pantothenate kinase associated neurodegeneration. Nat Commun. 9(1):4399, 2018
                                                                                  4. Darling A et al: Clinical rating scale for pantothenate kinase-associated neurodegeneration: a pilot study. Mov Disord. 32(11):1620-30, 2017
                                                                                  5. Liu Z et al: Subthalamic nuclei stimulation in patients with pantothenate kinase-associated neurodegeneration (PKAN). Neuromodulation. 20(5):484-91, 2017
                                                                                  6. 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
                                                                                  7. Amaral LL et al: Neurodegeneration with brain iron accumulation: clinicoradiological approach to diagnosis. J Neuroimaging. 25(4):539-51, 2015
                                                                                  8. Dusek P et al: The neurotoxicity of iron, copper and manganese in Parkinson's and Wilson's diseases. J Trace Elem Med Biol. 31:193-203, 2015
                                                                                  9. Dusek P et al: Wilson disease and other neurodegenerations with metal accumulations. Neurol Clin. 33(1):175-204, 2015
                                                                                  10. Hogarth P: Neurodegeneration with brain iron accumulation: diagnosis and management. J Mov Disord. 8(1):1-13, 2015
                                                                                  11. Ma LY et al: Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration. Clin Genet. 87(1):93-5, 2015
                                                                                  12. Stoeter P et al: Changes of cerebral white matter in patients suffering from pantothenate kinase-associated neurodegeneration (PKaN): a diffusion tensor imaging (DTI) study. Parkinsonism Relat Disord. 21(6):577-81, 2015
                                                                                  13. Bosemani T et al: Susceptibility-weighted imaging in pantothenate kinase-associated neurodegeneration. J Pediatr. 164(1):212, 2014
                                                                                  14. Dezfouli MA et al: PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation. Mov Disord. 28(2):228-32, 2013
                                                                                  15. Schipper HM: Neurodegeneration with brain iron accumulation - clinical syndromes and neuroimaging. Biochim Biophys Acta. 1822(3):350-60, 2012
                                                                                  16. Shah SO et al: Late-onset neurodegeneration with brain iron accumulation with diffusion tensor magnetic resonance imaging. Case Rep Neurol. 4(3):216-23, 2012
                                                                                  17. Kurian MA et al: Childhood disorders of neurodegeneration with brain iron accumulation (NBIA). Dev Med Child Neurol. 53(5):394-404, 2011
                                                                                  18. Gregory A et al: Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet. 46(2):73-80, 2009
                                                                                  19. Mikati MA et al: Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration. Eur J Paediatr Neurol. 13(1):61-4, 2009
                                                                                  20. Mylius V et al: Low-frequency rTMS of the premotor cortex reduces complex movement patterns in a patient with pantothenate kinase-associated neurodegenerative disease (PKAN). Neurophysiol Clin. 39(1):27-30, 2009
                                                                                  21. Sachin S et al: Clinical spectrum of Hallervorden-Spatz syndrome in India. J Clin Neurosci. 16(2):253-8, 2009
                                                                                  22. Schneider SA et al: Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2 - causative or consequential? J Neurol Neurosurg Psychiatry. 80(6):589-90, 2009
                                                                                  23. Wu YR et al: Pantothenate kinase-associated neurodegeneration in two Taiwanese siblings: identification of a novel PANK2 gene mutation. Mov Disord. 24(6):940-1, 2009
                                                                                  24. Chan KY et al: Pantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation. Hong Kong Med J. 14(1):70-3, 2008
                                                                                  25. Isaac C et al: Pallidal stimulation for pantothenate kinase-associated neurodegeneration dystonia. Arch Dis Child. 93(3):239-40, 2008
                                                                                  26. Lyoo CH et al: Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration. Mov Disord. 23(2):283-4, 2008
                                                                                  27. McNeill A et al: T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology. 70(18):1614-9, 2008
                                                                                  28. Surguchov A: Molecular and cellular biology of synucleins. Int Rev Cell Mol Biol. 270:225-317, 2008
                                                                                  29. Gupta R et al: Autopsy always teach and tell: neurodegeneration with brain iron accumulation: a case report. Indian J Pathol Microbiol. 50(4):792-4, 2007
                                                                                  30. Hamani C et al: Surgery for other movement disorders: dystonia, tics. Curr Opin Neurol. 20(4):470-6, 2007
                                                                                  31. Kazek B et al: A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication. J Child Neurol. 22(11):1256-9, 2007
                                                                                  32. Saleheen D et al: Novel mutation in the PANK2 gene leads to pantothenate kinase-associated neurodegeneration in a Pakistani family. Pediatr Neurol. 37(4):296-8, 2007
                                                                                  33. Shields DC et al: Pallidal stimulation for dystonia in pantothenate kinase-associated neurodegeneration. Pediatr Neurol. 37(6):442-5, 2007
                                                                                  34. Uversky VN: Neuropathology, biochemistry, and biophysics of alpha-synuclein aggregation. J Neurochem. 103(1):17-37, 2007
                                                                                  35. 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
                                                                                  36. Koyama M et al: Pantothenate kinase-associated neurodegeneration with increased lentiform nuclei cerebral blood flow. AJNR Am J Neuroradiol. 27(1):212-3, 2006
                                                                                  37. Nicholas AP et al: Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions. Mov Disord. 20(7):880-6, 2005
                                                                                  38. Thomas M et al: Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration. Mov Disord. 19(1):36-42, 2004
                                                                                  39. Hayflick SJ et al: Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med. 348(1):33-40, 2003
                                                                                  40. Hayflick SJ: Related Articles et al: Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name. Curr Opin Pediatr. 15(6):572-7, 2003
                                                                                  41. Gordon N: Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome). Eur J Paediatr Neurol. 6(5):243-7, 2002
                                                                                  42. Swaiman KF: Hallervorden-Spatz syndrome. Pediatr Neurol. 25(2):102-8, 2001
                                                                                  43. Dooling EC et al: Hallervorden-Spatz syndrome. Arch Neurol. 30(1):70-83, 1974