Adult-onset leukoencephalopathy with vanishing white matter

Autor:	G. E. Rudenskaya, E. Yu. Zakharova
Jazyk:	English<br />Russian
Rok vydání:	2017
Předmět:	vwm leukoencephalopathy with vanishing white matter adult-onset form eif2b1—5 gene mutations mri clinical variability ovarian failure Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
Zdroj:	Анналы клинической и экспериментальной неврологии, Vol 10, Iss 2, Pp 46-51 (2017)
Druh dokumentu:	article
ISSN:	2075-5473 2409-2533
DOI:	10.17816/psaic59
Popis:	Leukoencephalopathy with vanishing white matter (LEVWM)is one of the most common hereditary leukoencephalopathieswith characteristic MRI picture of diffuse whitematter lesions with cystic degeneration. The disease is associatedwith EIF2B1-5 genes, encoding five subunits of EIF2Btranslation initiation factor. There are infantile, childrens(the most frequent one), and adult-onset forms. Adult-onsetLE-VWM accounts for 1520% of all cases and is characterizedby significant clinical variability. In addition to neurologicaland cognitive disorders, this disease is characterized byovarian failure. The review presents the clinical and moleculargenetic aspects of adult-onset LE-VWM.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/828d237ddc9b4036a588bf56cbe0b34a Zobrazit plný text záznamu View record in DOAJ