Gene Mutations and Stroke in the Young Adult

被引:7
作者
Araji, Abdallah A. [1 ]
Sawaya, Helen R. [2 ]
Sawaya, Raja A. [1 ]
机构
[1] Amer Univ, Med Ctr, Dept Neurol, Beirut, Lebanon
[2] Amer Univ, Med Ctr, Dept Psychiat, Beirut, Lebanon
关键词
Young; stroke; hypercoagulable state; MTHFR; Factor V; FACTOR-V-LEIDEN; SPINAL-CORD INFARCTION; ISCHEMIC-STROKE; PROTHROMBIN G20210A; HYPERHOMOCYSTEINEMIA; THROMBOSIS; RISK;
D O I
10.1016/j.jstrokecerebrovasdis.2014.05.027
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
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.
引用
收藏
页码:2554 / 2558
页数:5
相关论文
共 16 条
[1]   The factor v leiden, prothrombin gene 20210GA, methylenetetrahydrofolate reductase 677CT and platelet glycoprotein IIIa 1565TC mutations in patients with acute ischemic stroke and atrial fibrillation [J].
Berge, Eivind ;
Haug, Kari Bente Foss ;
Sandset, Else Charlotte ;
Haugbro, Kaia Kristine ;
Turkovic, Meliha ;
Sandset, Per Morten .
STROKE, 2007, 38 (03) :1069-1071
[2]   Factor XIII Val 34 Leu - A novel association with primary intracerebral hemorrhage [J].
Catto, AJ ;
Kohler, HP ;
Bannan, S ;
Stickland, M ;
Carter, A ;
Grant, PJ .
STROKE, 1998, 29 (04) :813-816
[3]   Prothrombin G20210A mutant genotype is a risk factor for cerebrovascular ischemic disease in young patients [J].
De Stefano, V ;
Chiusolo, P ;
Paciaroni, K ;
Casorelli, I ;
Rossi, E ;
Molinari, F ;
Servidei, S ;
Tonali, PA ;
Leone, G .
BLOOD, 1998, 91 (10) :3562-3565
[4]   Stroke in children: inherited and acquired factors and age-related variations in the presentation of 48 paediatric patients [J].
Del Balzo, Francesca ;
Spalice, Alberto ;
Ruggieri, Martino ;
Greco, Filippo ;
Properzi, Enrico ;
Iannetti, Paola .
ACTA PAEDIATRICA, 2009, 98 (07) :1130-1136
[5]   Factor V Leiden mutation and other thrombophilia markers in childhood ischemic stroke [J].
Duran, R ;
Biner, B ;
Demir, M ;
Çeltik, C ;
Karasalihoglu, S .
CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS, 2005, 11 (01) :83-88
[6]  
Hamzi Khalil, 2011, Indian J Hum Genet, V17, P212, DOI 10.4103/0971-6866.92105
[7]   Bilateral transverse sinus thrombosis secondary to a homozygous C677T MTHFR gene mutation [J].
Kanaan, Ziad M. ;
Mahfouz, Rami ;
Taher, Ali ;
Sawaya, Raja A. .
GENETIC TESTING, 2008, 12 (03) :363-365
[8]   Hyperhomocysteinemia and other inherited prothrombotic conditions in young adults with a history of ischemic stroke [J].
Madonna, P ;
de Stefano, V ;
Coppola, A ;
Cirillo, F ;
Cerbone, AM ;
Orefice, G ;
Di Minno, G .
STROKE, 2002, 33 (01) :51-56
[9]   Homozygous methylenetetrahydrofolate reductase C677T mutation in a woman with spinal cord infarction [J].
Mahfouz, R. A. R. ;
Otrock, Z. K. ;
Kanaan, Z. M. ;
Sawaya, R. A. ;
Taher, A. T. .
EUROPEAN JOURNAL OF NEUROLOGY, 2006, 13 (09) :E4-E4
[10]  
McColl MD, 1999, THROMB HAEMOSTASIS, V81, P690