-
1Academic Journal
Συγγραφείς: N. Yu. Perunova, M. Yu. Bobylova, T. M. Prygunova, Н. Ю. Перунова, М. Ю. Бобылова, Т. М. Прыгунова
Συνεισφορές: The authors are grateful to their colleagues and patients’ parents for their help in preparing the materials of this article., Авторы выражают благодарность коллегам и родителям пациенток за помощь при подготовке материалов данной статьи.
Πηγή: Russian Journal of Child Neurology; Том 15, № 1 (2020); 47-61 ; Русский журнал детской неврологии; Том 15, № 1 (2020); 47-61 ; 2412-9178 ; 2073-8803 ; 10.17650/2073-8803-2020-15-1
Θεματικοί όροι: признак «глаза тигра» на магнитно-резонансной томограмме, hereditary degenerative basal ganglia disease, severe childhood epilepsy, benign epileptiform discharges of childhood, iron accumulation in the globus pallidus and substantia nigra, dystonia–parkinsonism, levodopa, hereditary dementia, Rett syndrome with iron accumulation in the basal ganglia, mutation in the WDR45 gene, eye-of-the-tiger sign on magnetic resonance images, наследственно-дегенеративное заболевание базальных ядер, тяжелая эпилепсия детства, доброкачественные эпилептиформные паттерны детства, накопление железа в бледном шаре и черном веществе, дистония–паркинсонизм, леводопа, генетическая деменция, синдром Ретта с накоплением железа в базальных ядрах, мутация в гене WDR45
Περιγραφή αρχείου: application/pdf
Relation: https://rjdn.abvpress.ru/jour/article/view/324/225; Захарова Е.Ю., Руденская Г.Е. Новая форма наследственной нейродегенерации с накоплением железа в мозге: клинические и молекулярно-генетические характеристики. Журнал неврологии и психиатрии им. С.С. Корсакова 2014;114(1):4–12.; Abidi A., Mignon-Ravix C., Cacciagli P. et al. Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient. Eur J Hum Genet 2016;24:615–8.; Dufke A., Grasshoff U., Dufke C. et al. NGS based whole X-exome analysis reveals a familial WDR45 missense mutation in 3 males with intellectual disability and brain iron accumulation. Abstract P08.53-S. European Society of Human Genetics Conference, 2014, Milan.; Gregory A., Kurian M.A., Haack T. et al. Beta-propeller protein-associated neurodegeneration. In: GeneReviews®. Seattle: University of Washington, 1993–2019. Available at: https://www.ncbi.nlm.nih.gov/books/NBK424403/.; Gregory A., Polster B.J., Hayflick S.J. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet 2009;46:73–80.; Haack T.B., Hogarth P., Kruer M.C. et al. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet 2012;91:1144–9. DOI:10.1016/j.ajhg.2012.10.019.; Hayflick S.J., Kruer M.C., Gregory A. et al. β-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain 2013;136:1708–17. DOI:10.1093/brain/awt095.; Ichinose Y., Miwa M., Onohara A. et al. Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN). Neurol Clin Pract 2014;4:175–7.; Khalifa M., Naffaa L. Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings. Eur J Med Genet 2015;58:381–6. DOI:10.1016/j.ejmg.2015.05.009.; Kruer M.C., Boddaert N., Schneider S.A. et al. Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR Am J Neuroradiol 2012;33: 407–14. DOI:10.3174/ajnr.A2677.; Long M., Abdeen N., Geraghty M.T. et al. Novel WDR45 mutation and pathognomonic BPAN imaging in a young female with mild cognitive delay. Pediatrics 2015;136:e714–7. DOI:10.1542/peds.2015-0750.; Nishioka K., Oyama G., Yoshino H. et al. High frequency of beta-propeller proteinassociated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism. Neurobiol Aging 2015;36:2004.e9–15. DOI:10.1016/j.neurobiolaging.2015.01.020.; Ohba C., Nabatame S., Iijima Y. et al. De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain. J Hum Genet 2014;59:292–5. DOI:10.1038/jhg.2014.18.; OMIM: Neurodegeneration with Brain Iron Accumulation 5, NBIA5. Available at: http://omim.org/entry/300894.; Paudel R., Li A., Wiethoff S. et al. Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy. Acta Neuropathol Commun 2015;3:39. DOI:10.1186/s40478-015-0221-3.; Pellock J.M., Hrachovy R., Shinnar S. et al. Infantile spasms: a U.S. consensus report. Epilepsia 2010;51:2175–89. DOI:10.1111/j.1528-1167.2010.02657.x.; Rathore G.S., Schaaf C.P., Stocco A.J. Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration. Mov Disord 2014;29:574–5. DOI:10.1002/mds.25868.; Saitsu H., Nishimura T., Muramatsu К. et al. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nature Genet 2013;45:445–9. DOI:10.1038/ng.2562.; Schneider S.A., Bhatia K.P. Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA). J Neural Transm 2013;120:695–703. DOI:10.1007/s00702-012-0922-8.; Verhoeven W.M., Egger J.I., Koolen D.A. et al. Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients. Parkinsonism Relat Disord 2014;20:332–6. DOI:10.1016/j.parkreldis.2013.11.019.; Zarate Y.A., Jones J.R., Jones M.A. et al. Lessons from a pair of siblings with BPAN. Eur J Hum Genet 2016;24:1080–3. DOI:10.1038/ejhg.2015.242.; https://rjdn.abvpress.ru/jour/article/view/324