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  • Print publication year: 2014
  • Online publication date: December 2014

16 - Other neurogenerative conditions IV

References

1. J. E. Duda, K. Jellinger. Neurodegeneration with brain iron accumulation. In: D. Dickson, R. O. Weller (eds). Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders, 2nd edn. Chichester: Wiley-Blackwell 2011: 446–55.
2. R. Vidal, M. B. Delisle, O. Rascol, B. Ghetti. Hereditary ferritinopathies. In: D. Dickson, R. O. Weller (eds). Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders, 2nd edn. Chichester, Wiley-Blackwell 2011: 461–6.
3. M. C. Kruer, N. Boddaert, S. A. Schneider, et al. Neuroimaging features of neurodegeneration with brain iron accumulation. Am J Neuroradiol 2012; 33: 407–14.
4. H. M. Schipper. Neurodegeneration with brain iron accumulation – clinical syndromes and neuroimaging. Biochim Biophys Acta 2012; 1822: 350–60.
5. S. A. Schneider, P. Dusek, J. Hardy, et al. Genetics and pathophysiology of neurodegeneration with brain iron accumulation. Curr Neuropharmacol 2013; 11: 59–79.
6. S. A. Schneider, K. P. Bhatia. Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA). J Neural Transm 2013; 120: 695–703.
7. M. C. Kruer. The neuropathology of neurodegeneration with brain iron accumulation. Int Rev Neurobiol. 2013; 110: 165–94.
8. A. Li, R. Paudel, R. Johnson R. Courtney, et al. Pantothenate kinase-associated neurodegeneration is not a synucleinopathy. Neuropathol Appl Neurobiol 2013; 39:121–31.
9. M. B. Hartig, A. Iuso, T. Haack, et al. Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am J Genet 2011; 89: 543–50.
10. X. Xu, S. Pin, M. Gathinji, R. Fuchs, Z. L. Harris. Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. Ann NY Acad Sci 2004; 1012: 299–305.
11. H. Miyajima. Aceruloplasminemia, an iron metabolic disorder. Neuropathology 2003; 23: 345–50.
12. M. Mancuso, G. Davidzon, R. M. Kurlan, et al. Hereditary feritinopathy: a novel mutation, its cellular pathology, and pathogenic insights. J Neuropathol Exp Neurol 2005; 64: 280–94.
13. F. Ory-Magne, C. Brefel-Courbon, P. Payoux, et al. Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498–499InsTC). Mov Disord 2009; 24: 1676–83.
14. M. J. Keogh, C. M. Morris, P. F. Chinnery. Neuroferritinopathy. Int Rev Neurobiol 2013; 110: 91–123.
15. R. Vidal, B. Ghetti, M. Takao. Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene. J Neuropathol Exp Neurol 2044; 63: 363–80.
16. J. M. Schröeder. Ferritinopathy: diagnosis by muscle or nerve biopsy, with a note on other nuclear inclusion-body diseases. Acta Neuropathol 2005; 109: 109–14.
17. T. B. Haack, P. Hogarth, M. C. Kruer, et al. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet 2012; 91: 1144–1149.
18. S. J. Hayflick, M. C. Kruer, A. Gregory, et al. β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain 2013; 136:1708–17.
19. H. Saitsu, T. Nishimura, K. Muramatsu, et al. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet 2013; 45: 445–9.