Genetics of ischaemic stroke in young adults

  • E. T
  • N. G
  • M. B
 et al. 
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Background: Stroke may be a clinical expression of several inherited disorders in humans. Recognition of the underlined genetic disorders causing stroke is important for a correct diagnosis, for genetic counselling and, even if rarely, for a correct therapeutic management. Moreover, the genetics of complex diseases such the stroke, in which multiple genes interact with environmental risk factors to increase risk, has been revolutionized by the Genome-Wide Association Study (GWAS) approach. Scope of review: Here we review the single-gene causes of ischemic stroke, bringing the reader from the candidate gene method toward the exciting new horizons of genetic technology. Major conclusions: The aetiological diagnosis of ischemic stroke in young adults is more complex than in the elderly. The identification of a genetic cause is important to provide appropriate counseling and to start a correct therapy, when available. The advent of GWAS technology, such as for other complex pathological conditions, has contributed enormously to the understanding of many of these genetic bases. For success large, well phenotyped case cohorts are required, and international collaborations are essential. General significance: This review focuses on the main causes of genetically-based ischemic stroke in young adults, often classified as indeterminate, investigating also the recent findings of the GWAS, in order to improve diagnostic and therapeutic management.

Author-supplied keywords

  • *brain ischemia/di [Diagnosis]
  • *brain ischemia/et [Etiology]
  • *genetics
  • Ehlers Danlos syndrome
  • Fabry disease
  • Marfan syndrome
  • X chromosome linked disorder
  • alpha galactosidase
  • arginine/iv [Intravenous Drug Administration]
  • aryldialkylphosphatase/ec [Endogenous Compound]
  • brain hemorrhage
  • carnitine
  • cerebrovascular accident
  • collagen type 3/ec [Endogenous Compound]
  • connective tissue
  • corticosteroid
  • creatine
  • disorders of mitochondrial functions
  • edema
  • familial hemiplegic migraine
  • fibrillin 1/ec [Endogenous Compound]
  • fibrinogen receptor/ec [Endogenous Compound]
  • gene mutation
  • genetic association
  • genetic screening
  • genetic variability
  • homocystinuria
  • human
  • idebenone
  • lactic acid
  • linezolid
  • lipid metabolism
  • lipoprotein lipase/ec [Endogenous Compound]
  • matrix metalloproteinase/ec [Endogenous Compound]
  • meta analysis (topic)
  • metformin
  • mitochondrial DNA/ec [Endogenous Compound]
  • monogenic disorder
  • nuclear magnetic resonance imaging
  • nucleotide sequence
  • polygyny
  • prevalence
  • priority journal
  • pseudoxanthoma elasticum
  • pyridoxine
  • renin angiotensin aldosterone system
  • review
  • sickle cell anemia
  • single nucleotide polymorphism
  • ubidecarenone
  • valproic acid
  • very late activation antigen 2/ec [Endogenous Comp

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  • Terni E.

  • Giannini N.

  • Brondi M.

  • Montano V.

  • Bonuccelli U.

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