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Pathogenic ischemic stroke phenotypes in the NINDS-stroke genetics network.

Hakan Ay1, Ethem Murat Arsava1, Gunnar Andsberg1

  • 1From the Department of Radiology, AA Martinos Center for Biomedical Imaging (H.A., E.M.A., T.B.), Stroke Service, Department of Neurology (H.A., J.R.), and Center for Human Genetic Research (J.R.), Massachusetts General Hospital, Harvard Medical School, Boston; Department of Neurology and Rehabilitation Medicine, Skåne University Hospital, Lund, Sweden (G.A., H.D., A.L., O.M., B.N.); Department of Neurology, Mayo Clinic Rochester, MN (R.D.B.); Department of Neurology (S.N.C., B.B.W.), Center for Public Health Genomics (S.S.R.), and Department of Public Health Sciences (B.B.W.), University of Virginia, Charlottesville; Department of Neurology (J.W.C., S.J.K.) and Division of Endocrinology, Diabetes, and Nutrition, Department of Medicine (P.F.M.), University of Maryland School of Medicine, Baltimore; Institute for Stroke and Dementia Research (ISD), Klinikum der Universität München, Ludwig-Maximilians-University, München, Germany (M.D., M.L.); Department of Clinical Science, Lund University, Malmö, Sweden (G.E., B.N.); Department of Neurology, Neurovascular Research Group, IMIM-Hospital del Mar, Universitat Autonoma de Barcelona/DCEXS-Universitat Pompeu Fabra, Spain (E.G.-S., J.J.-C., J.R.); Neuroscience Institute, Saint Francis Medical Center, Trenton, NJ (R.P.G., L.R.P.); National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (K.G.); Institute of Biomedicine (C.J., A.P.) and Institute of Neuroscience and Physiology (K.J.), Sahlgrenska Academy at University of Gothenburg, Sweden; Department of Neurology, University of Miami Miller School of Medicine, FL (M.K., T.R., R.L.S.); Department of Neurology, University of Cincinnati College of Medicine, OH (B.K., D.O.K.); Department of Neurology, Stern Stroke Center, Albert Einstein College of Medicine, Bronx, NY (D.L.L.); Department of Neuroscience and Sensory Organs, Policlinico Hospital Foundation IRCCS Cà Granda, Milan, Italy (S.L.); Department of Neurology, Washington U

Stroke
|November 8, 2014
PubMed

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Summary

Stroke subtype classification shows good reliability across diverse studies. However, phenotypic abnormalities do not always confirm the causative stroke subtype, indicating a need for careful interpretation.

Area of Science:

  • Neurology
  • Genetics
  • Epidemiology

Background:

  • The National Institute of Neurological Disorders and Stroke-Stroke Genetics Network (NINDS-SiGN) is an international consortium focused on identifying the genetic basis of ischemic stroke subtypes.
  • High-quality phenotype data is crucial for understanding stroke pathogenesis.

Purpose of the Study:

  • To characterize the etiopathogenetic basis of ischemic stroke.
  • To assess the reliability of stroke classification within the NINDS-SiGN consortium.

Main Methods:

  • Utilized the web-based Causative Classification of Stroke System for 16,954 subjects across 23 studies (12 US, 11 European).
  • Fifty-two trained adjudicators determined phenotypic and causative ischemic stroke subtypes.
  • Assessed classification reliability through blinded readjudication of 1,509 cases.
Keywords:
classificationpathogenesisphenotype

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Main Results:

  • Pathogenic category distribution varied significantly by study, age, sex, and race (P<0.001).
  • Only 40-54% of cases with a given phenotypic subtype were confidently classified into the same causative category.
  • Good inter-rater reliability was observed for both causative (κ=0.72) and phenotypic (κ=0.73) classifications.

Conclusions:

  • Pathogenic stroke subtypes can be reliably determined across diverse study settings and patient populations.
  • Discordance between phenotypic and causative subtypes underscores that identified abnormalities may not be the stroke's cause.