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2015 ; 3
(ä): 96-106
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Genetics of ischaemic stroke in young adults
#MMPMID26672892
Terni E
; Giannini N
; Brondi M
; Montano V
; Bonuccelli U
; Mancuso M
BBA Clin
2015[Jun]; 3
(ä): 96-106
PMID26672892
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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.
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