A Patient with Combined CADASIL and MTHFR Homozygosity
Joint Authors
Ibrikji, Sidonie
El Halabi, Tarek
Yamout, Bassem I.
Source
Case Reports in Neurological Medicine
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-02-17
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is an inherited disorder caused by a mutation in the NOTCH 3 gene, characterized by early onset of subcortical lacunar infarcts in the absence of vascular risk factors and cerebral microbleeds.
Homozygosity for the factor Methylenetetrahydrofolate Reductase (MTHFR) is also associated with lacunar stroke risk and cerebral small-vessel disease regardless of the homocysteine level.
The coexistence of MTHFR C677T homozygosity and NOTCH 3 mutation has never been reported in the literature previously, and that brings up the challenge of antithrombotic treatment in the presence of cerebral microbleeds.
American Psychological Association (APA)
Ibrikji, Sidonie& El Halabi, Tarek& Yamout, Bassem I.. 2020. A Patient with Combined CADASIL and MTHFR Homozygosity. Case Reports in Neurological Medicine،Vol. 2020, no. 2020, pp.1-3.
https://search.emarefa.net/detail/BIM-1148900
Modern Language Association (MLA)
Ibrikji, Sidonie…[et al.]. A Patient with Combined CADASIL and MTHFR Homozygosity. Case Reports in Neurological Medicine No. 2020 (2020), pp.1-3.
https://search.emarefa.net/detail/BIM-1148900
American Medical Association (AMA)
Ibrikji, Sidonie& El Halabi, Tarek& Yamout, Bassem I.. A Patient with Combined CADASIL and MTHFR Homozygosity. Case Reports in Neurological Medicine. 2020. Vol. 2020, no. 2020, pp.1-3.
https://search.emarefa.net/detail/BIM-1148900
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1148900