Abstract

Numerous biological mechanisms contribute to outcome after stroke, including brain injury, inflammation, and repair mechanisms. Clinical genetic studies have the potential to discover biological mechanisms affecting stroke recovery in humans and identify intervention targets. Large sample sizes are needed to detect commonly occurring genetic variations related to stroke brain injury and recovery. However, this usually requires combining data from multiple studies where consistent terminology, methodology, and data collection timelines are essential. Our group of expert stroke and rehabilitation clinicians and researchers with knowledge in genetics of stroke recovery here present recommendations for harmonizing phenotype data with focus on measures suitable for multicenter genetic studies of ischemic stroke brain injury and recovery. Our recommendations have been endorsed by the International Stroke Genetics Consortium.

Highlights

  • Genetic studies can potentially discover biological mechanisms affecting stroke recovery with treatment implications

  • The terms stroke outcome and stroke recovery differ in meaning

  • Stroke outcome describes the degree of function at specific time points; stroke recovery encompasses the degree of improvement over time and better captures dynamic biological processes

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Summary

Introduction

Genetic studies can potentially discover biological mechanisms affecting stroke recovery with treatment implications. They need large sample sizes only achievable by combining data from multiple studies, where harmonized terminology, methodology, and data collection timelines are essential. The terms stroke outcome and stroke recovery differ in meaning. Stroke outcome describes the degree of function at specific time points; stroke recovery encompasses the degree of improvement (or deterioration) over time and better captures dynamic biological processes. It is important to distinguish restitution (‘‘true’’) recovery from behavioral compensation. ‘‘true’’ motor recovery suggests restoration of pre-stroke movement patterns[1] whereas ‘‘compensation,’’ implies new (possibly dysfunctional) movement patterns for accomplishing functional tasks.[2]

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