Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report

Autor:	Halim Yilmaz, Gulten Erkin, Haluk Gumus, Lutfiye Nalbant
Jazyk:	angličtina
Rok vydání:	2013
Předmět:	Neurology. Diseases of the nervous system RC346-429
Zdroj:	Case Reports in Neurological Medicine, Vol 2013 (2013)
Druh dokumentu:	article
ISSN:	2090-6668 2090-6676
DOI:	10.1155/2013/735419
Popis:	In neurofibromatosis type-1 (NF1), cerebrovascular disorders are rarely encountered although vasculopathy is a well-known complication. Several mutations seen in methylenetetrahydrofolate reductase (MTHFR) give rise to the formation of hyperhomocysteinemia and homocystinuria, a considerable risk factor for cardiovascular and cerebrovascular disorders, by leading to enzymatic inactivation. In the paper, a 31-year-old young stroke female patient with the coexistence of neurofibromatosis and MTHFR C677T gene mutation was presented.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/7abd3f61be7f472ba667ed710baf76f2 Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF