참고문헌
- Hogarth P. Neurodegeneration with brain iron accumulation: diagnosis and management. J Mov Disord 2015;8:1-13. https://doi.org/10.14802/jmd.14034
- Levi S, Tiranti V. Neurodegeneration with brain iron accumulation disorders: valuable models aimed at understanding the pathogenesis of iron deposition. Pharmaceuticals 2019;12(1):E27.
- Meyer E, Kurian MA, Hayflick SJ. Neurodegeneration with brain iron accumulation: genetic diversity and pathophysiological mechanisms. Annu Rev Genomics Hum Genet 2015;16:257-79. https://doi.org/10.1146/annurev-genom-090314-025011
- Arber CE, Li A, Houlden H, Wray S. Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories. Neuropathol Appl Neurobiol 2016;42(3):220-41. https://doi.org/10.1111/nan.12242
- Hayflick SJ, Kurian MA, Hogarth P. Neurodegeneration with brain iron accumulation. Handb Clin Neurol 2018;147:293-305.
- Tello C, Darling A, Lupo V, Perez-Duenas B, Espinos C. On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation. Clin Genet 2018;93(4):731-40. https://doi.org/10.1111/cge.13057
- Keogh MJ, Chinnery PF. Current concepts and controversies in neurodegeneration with brain iron accumulation. Semin Pediatr Neurol 2012;19:51-6. https://doi.org/10.1016/j.spen.2012.03.004
- Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 2003;348:33-40.
- Schneider SA. Neurodegenerations with Brain Iron Accumulation. Parkinsonism Relat Disord 2016;22 Suppl 1:S21-5.
- Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, Natowicz MR, et al. New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology 2013;80(3):268-75. https://doi.org/10.1212/WNL.0b013e31827e07be
-
Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, et al.
${\beta}$ -propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain 2013;136(Pt 6):1708-17. https://doi.org/10.1093/brain/awt095 - Kruer MC, Boddaert N. Neurodegeneration with brain iron accumulation: a diagnostic algorithm. Semin Pediatr Neurol 2012;19:67-74. https://doi.org/10.1016/j.spen.2012.04.001
- Lee JH, Gregory A, Hogarth P, Rogers C, Hayflick SJ. Looking deep into the eye-of-the-tiger in pantothenate kinase-associated neurodegeneration. Am J Neuroradiol 2018;39(3):583-8. https://doi.org/10.3174/ajnr.A5514
- Kruer MC, Boddaert N, Schneider SA, Houlden H, Bhatia KP, Gregory A, Anderson JC, Rooney WD, Hogarth P, Hayflick SJ. Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR Am J Neuroradiol 2012;33(3):407-14. https://doi.org/10.3174/ajnr.A2677
- McNeill A, Birchall D, Hayflick SJ, Gregory A, Schenk JF, Zimmerman EA, et al. T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology 2008;70:1614-9. https://doi.org/10.1212/01.wnl.0000310985.40011.d6
- Amaral LL, Gaddikeri S, Chapman PR, Roy R, Gaddikeri RS, Marussi VH, et al. Neurodegeneration with brain iron accumulation: clinicoradiological approach to diagnosis. J Neuroimaging 2015;25:539-51. https://doi.org/10.1111/jon.12195
- Skowronska M, Kmiec T, Jurkiewicz E, Malczyk K, Kurkowska-Jastrzebska I, Czlonkowska A. Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12. Parkinsonism Relat Disord 2017;39:71-6. https://doi.org/10.1016/j.parkreldis.2017.03.013
- Kurian MA, Morgan NV, MacPherson L, Foster K, Peake D, Gupta R, et al. Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology 2008;70(18):1623-9. https://doi.org/10.1212/01.wnl.0000310986.48286.8e
- Al-Maawali A, Yoon G, Feigenbaum AS, Halliday WC, Clarke JT, Branson HM, et al. Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis. Neuroradiology 2016;58(10):1035-42.
- Darling A, Aguilera-Albesa S, Tello CA, Serrano M, Tomas M, Camino-Leon R, et al. PLA2G6-associated neurodegeneration: new insights into brain abnormalities and disease progression. Parkinsonism Relat Disord 2019;61:179-86. https://doi.org/10.1016/j.parkreldis.2018.10.013
- Schneider SA, Alcalay RN. Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature. Mov Disord 2017;32(11):1504-23. https://doi.org/10.1002/mds.27193
- Wiethoff S, Houlden H. Neurodegeneration with brain iron accumulation. Handb Clin Neurol 2017;145:157-66.