Annals of Clinical and Experimental NeurologyAnnals of Clinical and Experimental NeurologyАнналы клинической и экспериментальной неврологии2075-54732409-2533Eco-Vector21610.17816/psaic216ReviewsОбзорыUnknownNeurodegeneration with brain iron accumulationНаследственные нейродегенерации с накоплением железа в мозгеRudenskayaGalina E.РуденскаяГалина Евгеньевна
Russian Federation
rudenskaya@med-gen.ruZakharovaE. Yu.ЗахароваE. Ю.
Russian Federation
rudenskaya@med-gen.ruResearch Centre for Medical GeneticsФГБНУ «Медико-генетический научный центр имени Н.П. Бочкова»0912201374516002022017Copyright ©; 2013, Rudenskaya G.E., Zakharova E.Y.Copyright ©; 2013, Rudenskaya G.E., Zakharova E.Y.2013Rudenskaya G.E., Zakharova E.Y.Rudenskaya G.E., Zakharova E.Y.https://creativecommons.org/licenses/by/4.0https://annaly-nevrologii.com/pathID/article/view/216

Neurodegeneration with brain iron accumulation (NBIA) is a clinically and genetically heterogeneous group of hereditary (predominantly autosomal recessive) progressive disorders of the CNS with a common feature of iron accumulation in basal ganglia and characteristic MRI image. By now, nine genes responsible for different NBIA are known, and some of these genes cause the development of several allelic phenotypes. In the review, current data on NBIA clinical and molecular genetic aspects, particularly on recently discovered forms and atypical clinical variants, are summarized.

Нейродегенерации с накоплением железа в мозге (ННЖМ) – клинически и генетически гетерогенная группа наследственных (преимущественно аутосомно-рецессивных) прогрессирующих болезней ЦНС с общим признаком – накоплением железа в базальных ганглиях, дающим характерную картину при нейровизуализации. В настоящее время идентифицировано 9 генов, связанных с разными ННЖМ, часть из этих генов обусловливают развитие несколько аллельных фенотипов. В обзоре суммированы современные клинические и молекулярно-генетические данные о ННЖМ, особенно о новых формах и атипичных клинических вариантах.

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