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Published in: Journal of Neurology 5/2024

Open Access 19-03-2024 | Stroke | Review

Genetics of ischemic stroke functional outcome

Authors: Troy P. Carnwath, Stacie L. Demel, Charles J. Prestigiacomo

Published in: Journal of Neurology | Issue 5/2024

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Abstract

Ischemic stroke, which accounts for 87% of cerebrovascular accidents, is responsible for massive global burden both in terms of economic cost and personal hardship. Many stroke survivors face long-term disability—a phenotype associated with an increasing number of genetic variants. While clinical variables such as stroke severity greatly impact recovery, genetic polymorphisms linked to functional outcome may offer physicians a unique opportunity to deliver personalized care based on their patient’s genetic makeup, leading to improved outcomes. A comprehensive catalogue of the variants at play is required for such an approach. In this review, we compile and describe the polymorphisms associated with outcome scores such as modified Rankin Scale and Barthel Index. Our search identified 74 known genetic polymorphisms spread across 48 features associated with various poststroke disability metrics. The known variants span diverse biological systems and are related to inflammation, vascular homeostasis, growth factors, metabolism, the p53 regulatory pathway, and mitochondrial variation. Understanding how these variants influence functional outcome may be helpful in maximizing poststroke recovery.
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Metadata
Title
Genetics of ischemic stroke functional outcome
Authors
Troy P. Carnwath
Stacie L. Demel
Charles J. Prestigiacomo
Publication date
19-03-2024
Publisher
Springer Berlin Heidelberg
Keyword
Stroke
Published in
Journal of Neurology / Issue 5/2024
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-024-12263-x

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