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(Stroke. 2004;35:342.)
© 2004 American Heart Association, Inc.

Advances in Stroke 2003

Genetics of Cerebrovascular Disease

Mark J. Alberts, MD

From the Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Ill.

Correspondence to Prof Mark J. Alberts, Department of Neurology, Northwestern University Feinberg School of Medicine, 710 N Lake Shore Dr, Chicago, IL 60611. E-mail m-alberts@northwestern.edu

Key Words: Advances in Stroke • cerebrovascular disorders • genetics • mutation • polymorphism

An extract of the first 250 words of the full text is provided, because this article has no abstract.

The past year has seen some exciting developments in our understanding of the role of genetic factors in the pathogenesis of stroke and cerebrovascular disease. One of the most significant advances came from the deCODE Genetics Group in Iceland, which reported the identification and characterization of a gene that appears to confer an increased risk of ischemic stroke.¹ The gene is phosphodiesterase 4D (PDE4D), which is widely expressed and regulates intracellular levels of cyclic-AMP.² The strongest associations were between PDE4D and ischemic strokes due to carotid atherosclerosis and cardiogenic strokes.¹

The findings of the deCODE group are important for several reasons. First, they would appear to add significant support to the hypothesis that genetic factors play an important role in the etiology and pathogenesis of so-called garden-variety types of stroke, namely those without other clearly defined or rare genetic causes (ie, CADASIL, MELAS, Marfan’s).^3,4 Second, the discovery of this stroke gene provides scientists with new avenues of exploration for understanding the pathogenesis of atherosclerosis, at least as it relates to cerebrovascular disease (the association between PDE4D and coronary or peripheral atherosclerosis is unclear at present). Third, understanding how PDE4D causes atherosclerosis will help to better define new therapeutic opportunities for disease prevention. And last, there may be a role in the future for screening individuals for the high-risk haplotypes of PDE4D in an effort to better define a group that might benefit from more intense preventive and/or medical interventions.

As with many new discoveries, there are some limitations that should . . . [Full Text of this Article]

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