title: Gene mutations and stroke in the young adult.
abstract: 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.
authors.affiliation: Department of Neurology, American University Medical Center, Beirut, Lebanon.
authors.forename: Abdallah A
authors.initials: AA
authors.lastname: Araji
authors.affiliation: Department of Psychiatry, American University Medical Center, Beirut, Lebanon.
authors.forename: Helen R
authors.initials: HR
authors.lastname: Sawaya
authors.affiliation: Department of Neurology, American University Medical Center, Beirut, Lebanon. Electronic address: rs01@aub.edu.lb.
authors.forename: Raja A
authors.initials: RA
authors.lastname: Sawaya
mesh_terms: D000328:Adult; D000375:Aging / Q000235:genetics*; D005165:Factor V / Q000235:genetics; D005176:Factor XIII / Q000235:genetics; D005260:Female; D005340:Fibrinogen / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D011516:Prothrombin / Q000235:genetics; D012189:Retrospective Studies; D012307:Risk Factors; D020521:Stroke / Q000235:genetics*; D055815:Young Adult
chemical_list: D005165:Factor V; D011516:Prothrombin; D005340:Fibrinogen; D005176:Factor XIII; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: Factor V; MTHFR; Young; hypercoagulable state; stroke