Gene Mutations and Stroke in the Young Adult

Background The purpose of this study is to evaluate the existence of the genetic mutation in the different types of cerebral and spinal strokes in previously healthy young adults. Methods We performed a retrospective study of the medical records of 35 young adults who presented to our institution wi...

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Bibliographic Details
Published in:Journal of stroke and cerebrovascular diseases 2014-11, Vol.23 (10), p.2554-2558
Main Authors: Araji, Abdallah A., MD, Sawaya, Helen R., MSc, Sawaya, Raja A., MD
Format: Article
Language:English
Subjects:
Adult
Aging - genetics
Cardiovascular
Factor V
Factor V - genetics
Factor XIII - genetics
Female
Fibrinogen - genetics
Genetic Predisposition to Disease
Humans
hypercoagulable state
Male
Methylenetetrahydrofolate Reductase (NADPH2) - genetics
MTHFR
Mutation
Neurology
Prothrombin - genetics
Retrospective Studies
Risk Factors
stroke
Stroke - genetics
Young
Young Adult
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Summary:Background The purpose of this study is to evaluate the existence of the genetic mutation in the different types of cerebral and spinal strokes in previously healthy young adults. Methods We performed a retrospective study of the medical records of 35 young adults who presented to our institution with the diagnosis of acute cerebrovascular insult. We defined the localization of their stroke, specified their risk factors, defined their genetic mutation, and correlated these variables to assess their significance in the predisposition of stroke in the young. Results We found that the MTHFR and Factor V gene mutations are the most likely mutations to be associated with cerebral strokes in young adults. Spinal strokes are also associated with beta fibrinogen, factor XIII, and prothrombin II mutations. We did not find that a homozygous gene mutation is more thrombogenic than its heterozygous component. Conclusions We concluded that the major etiologies for stroke in young adults were multiple gene mutations rather than systemic illnesses. We found out that mutation of the MTHFR gene in isolation or in combination with other gene mutations is the most important risk factor for stroke in the young.
ISSN:1052-3057
1532-8511
DOI:10.1016/j.jstrokecerebrovasdis.2014.05.027