Neurodegeneration with brain iron accumulation

Autor:	G. E. Rudenskaya, E. Yu. Zakharova
Jazyk:	English<br />Russian
Rok vydání:	2017
Předmět:	neurodegeneration with brain iron accumulation genetic heterogeneity dna testing mri basal ganglia extrapyramidal disorders Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
Zdroj:	Анналы клинической и экспериментальной неврологии, Vol 7, Iss 4, Pp 51-60 (2017)
Druh dokumentu:	article
ISSN:	2075-5473 2409-2533
DOI:	10.17816/psaic216
Popis:	Neurodegeneration with brain iron accumulation (NBIA) is aclinically and genetically heterogeneous group of hereditary (predominantlyautosomal recessive) progressive disorders of the CNSwith a common feature of iron accumulation in basal ganglia andcharacteristic MRI image. By now, nine genes responsible for differentNBIA are known, and some of these genes cause the developmentof several allelic phenotypes. In the review, current data onNBIA clinical and molecular genetic aspects, particularly onrecently discovered forms and atypical clinical variants, are summarized.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/bb927ae63ba647fcb7c5457c290d8e38 Zobrazit plný text záznamu View record in DOAJ