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PKAN
Anna Illner, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          TERMINOLOGY

          • Abbreviations

            • Pantothenate kinase-associated neurodegeneration (PKAN)
          • Synonyms

            • Neurodegeneration with brain iron accumulation type 1 (NBIA-1)
            • Hallervorden-Spatz syndrome
              • 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. 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. Ma LY et al: Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration. Clin Genet. 87(1):93-5, 2015
                                      5. 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. ePub, 2015
                                      6. Bosemani T et al: Susceptibility-weighted imaging in pantothenate kinase-associated neurodegeneration. J Pediatr. 164(1):212, 2014
                                      7. Dusek P et al: The neurotoxicity of iron, copper and manganese in Parkinson's and Wilson's diseases. J Trace Elem Med Biol. ePub, 2014
                                      8. Dezfouli MA et al: PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation. Mov Disord. 28(2):228-32, 2013
                                      9. Schipper HM: Neurodegeneration with brain iron accumulation - clinical syndromes and neuroimaging. Biochim Biophys Acta. 1822(3):350-60, 2012
                                      10. 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
                                      11. Kurian MA et al: Childhood disorders of neurodegeneration with brain iron accumulation (NBIA). Dev Med Child Neurol. 53(5):394-404, 2011
                                      12. Gregory A et al: Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet. 46(2):73-80, 2009
                                      13. 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
                                      14. 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
                                      15. Sachin S et al: Clinical spectrum of Hallervorden-Spatz syndrome in India. J Clin Neurosci. 16(2):253-8, 2009
                                      16. Schneider SA et al: Iron Accumulation in Syndromes of Neurodegeneration with Brain Iron Accumulation 1 and 2 - causative or consequential?. J Neurol Neurosurg Psychiatry. Epub ahead of print, 2009
                                      17. 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
                                      18. 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
                                      19. Isaac C et al: Pallidal stimulation for pantothenate kinase-associated neurodegeneration dystonia. Arch Dis Child. 93(3):239-40, 2008
                                      20. Lyoo CH et al: Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration. Mov Disord. 23(2):283-4, 2008
                                      21. McNeill A et al: T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology. 70(18):1614-9, 2008
                                      22. Surguchov A: Molecular and cellular biology of synucleins. Int Rev Cell Mol Biol. 270:225-317, 2008
                                      23. 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
                                      24. Hamani C et al: Surgery for other movement disorders: dystonia, tics. Curr Opin Neurol. 20(4):470-6, 2007
                                      25. 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
                                      26. 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
                                      27. Shields DC et al: Pallidal stimulation for dystonia in pantothenate kinase-associated neurodegeneration. Pediatr Neurol. 37(6):442-5, 2007
                                      28. Uversky VN: Neuropathology, biochemistry, and biophysics of alpha-synuclein aggregation. J Neurochem. 103(1):17-37, 2007
                                      29. 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
                                      30. Koyama M et al: Pantothenate kinase-associated neurodegeneration with increased lentiform nuclei cerebral blood flow. AJNR Am J Neuroradiol. 27(1):212-3, 2006
                                      31. Nicholas AP et al: Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions. Mov Disord. 20(7):880-6, 2005
                                      32. 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
                                      33. Hayflick SJ et al: Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med. 348(1):33-40, 2003
                                      34. 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
                                      35. Gordon N: Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome). Eur J Paediatr Neurol. 6(5):243-7, 2002
                                      36. Swaiman KF: Hallervorden-Spatz syndrome. Pediatr Neurol. 25(2):102-8, 2001
                                      37. 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

                                            • Clinical Issues

                                              TERMINOLOGY

                                              • Abbreviations

                                                • Pantothenate kinase-associated neurodegeneration (PKAN)
                                              • Synonyms

                                                • Neurodegeneration with brain iron accumulation type 1 (NBIA-1)
                                                • Hallervorden-Spatz syndrome
                                                  • 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. 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. Ma LY et al: Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration. Clin Genet. 87(1):93-5, 2015
                                                                          5. 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. ePub, 2015
                                                                          6. Bosemani T et al: Susceptibility-weighted imaging in pantothenate kinase-associated neurodegeneration. J Pediatr. 164(1):212, 2014
                                                                          7. Dusek P et al: The neurotoxicity of iron, copper and manganese in Parkinson's and Wilson's diseases. J Trace Elem Med Biol. ePub, 2014
                                                                          8. Dezfouli MA et al: PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation. Mov Disord. 28(2):228-32, 2013
                                                                          9. Schipper HM: Neurodegeneration with brain iron accumulation - clinical syndromes and neuroimaging. Biochim Biophys Acta. 1822(3):350-60, 2012
                                                                          10. 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
                                                                          11. Kurian MA et al: Childhood disorders of neurodegeneration with brain iron accumulation (NBIA). Dev Med Child Neurol. 53(5):394-404, 2011
                                                                          12. Gregory A et al: Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet. 46(2):73-80, 2009
                                                                          13. 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
                                                                          14. 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
                                                                          15. Sachin S et al: Clinical spectrum of Hallervorden-Spatz syndrome in India. J Clin Neurosci. 16(2):253-8, 2009
                                                                          16. Schneider SA et al: Iron Accumulation in Syndromes of Neurodegeneration with Brain Iron Accumulation 1 and 2 - causative or consequential?. J Neurol Neurosurg Psychiatry. Epub ahead of print, 2009
                                                                          17. 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
                                                                          18. 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
                                                                          19. Isaac C et al: Pallidal stimulation for pantothenate kinase-associated neurodegeneration dystonia. Arch Dis Child. 93(3):239-40, 2008
                                                                          20. Lyoo CH et al: Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration. Mov Disord. 23(2):283-4, 2008
                                                                          21. McNeill A et al: T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology. 70(18):1614-9, 2008
                                                                          22. Surguchov A: Molecular and cellular biology of synucleins. Int Rev Cell Mol Biol. 270:225-317, 2008
                                                                          23. 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
                                                                          24. Hamani C et al: Surgery for other movement disorders: dystonia, tics. Curr Opin Neurol. 20(4):470-6, 2007
                                                                          25. 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
                                                                          26. 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
                                                                          27. Shields DC et al: Pallidal stimulation for dystonia in pantothenate kinase-associated neurodegeneration. Pediatr Neurol. 37(6):442-5, 2007
                                                                          28. Uversky VN: Neuropathology, biochemistry, and biophysics of alpha-synuclein aggregation. J Neurochem. 103(1):17-37, 2007
                                                                          29. 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
                                                                          30. Koyama M et al: Pantothenate kinase-associated neurodegeneration with increased lentiform nuclei cerebral blood flow. AJNR Am J Neuroradiol. 27(1):212-3, 2006
                                                                          31. Nicholas AP et al: Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions. Mov Disord. 20(7):880-6, 2005
                                                                          32. 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
                                                                          33. Hayflick SJ et al: Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med. 348(1):33-40, 2003
                                                                          34. 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
                                                                          35. Gordon N: Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome). Eur J Paediatr Neurol. 6(5):243-7, 2002
                                                                          36. Swaiman KF: Hallervorden-Spatz syndrome. Pediatr Neurol. 25(2):102-8, 2001
                                                                          37. Dooling EC et al: Hallervorden-Spatz syndrome. Arch Neurol. 30(1):70-83, 1974