Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report-Reference-Cited by-同舟云学术

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

Published:2013 Issue: Volume:2013 Page:1-3
ISSN:2090-6668
Container-title:Case Reports in Neurological Medicine
language:en
Short-container-title:Case Reports in Neurological Medicine

Author:

Yilmaz Halim¹^ORCID,Erkin Gulten¹,Gumus Haluk²,Nalbant Lutfiye¹

Affiliation:

1. The Department of Physical Medicine and Rehabilitation, Konya Education and Research Hospital, 42040 Konya, Turkey

2. The Department of Neurology, Konya Education and Research Hospital, 42040 Konya, Turkey

Abstract

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.

Publisher

Hindawi Limited

Subject

General Medicine

Link

http://downloads.hindawi.com/journals/crinm/2013/735419.pdf

Reference16 articles.

1. Young stroke due to vascular anomaly from neurofibromatosis type 1

2. Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke

3. Conversion of 5-Formyltetrahydrofolic Acid to 5-Methyltetrahydrofolic Acid Is Unimpaired in Folate-Adequate Persons Homozygous for the C677T Mutation in the Methylenetetrahydrofolate Reductase Gene

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome;European Journal of Medical Genetics;2021-05

2. Association between neurofibromatosis type 1 and cerebrovascular diseases in children: A systematic review;PLOS ONE;2021-01-04

3. Association between neurofibromatosis type 1 and cerebrovascular diseases in children: a systematic review;2020-10-09

4. A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report;BMC Neurology;2020-09-01