Skip to main content
Advertisement
  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Education
    • Genetics
    • Neuroimmunology & Neuroinflammation
  • Online Sections
    • Neurology Video Journal Club
    • Diversity, Equity, & Inclusion (DEI)
    • Neurology: Clinical Practice Accelerator
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • COVID-19
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Null Hypothesis
    • Patient Pages
    • Topics A-Z
    • Translations
    • UDDA Revision Series
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit New Manuscript
    • Submit Revised Manuscript
    • Author Center

Advanced Search

Main menu

  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Education
    • Genetics
    • Neuroimmunology & Neuroinflammation
  • Online Sections
    • Neurology Video Journal Club
    • Diversity, Equity, & Inclusion (DEI)
    • Neurology: Clinical Practice Accelerator
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • COVID-19
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Null Hypothesis
    • Patient Pages
    • Topics A-Z
    • Translations
    • UDDA Revision Series
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit New Manuscript
    • Submit Revised Manuscript
    • Author Center
  • Home
  • Articles
  • Issues

User menu

  • My Alerts
  • Log in

Search

  • Advanced search
Neurology Genetics
Home
A peer-reviewed clinical and translational neurology open access journal
  • My Alerts
  • Log in
Site Logo
  • Home
  • Articles
  • Issues

Share

October 2017; 3 (5) ArticleOpen Access

Design and rationale for examining neuroimaging genetics in ischemic stroke

The MRI-GENIE study

Anne-Katrin Giese, Markus D. Schirmer, Kathleen L. Donahue, Lisa Cloonan, Robert Irie, Stefan Winzeck, Mark J.R.J. Bouts, Elissa C. McIntosh, Steven J. Mocking, Adrian V. Dalca, Ramesh Sridharan, Huichun Xu, Petrea Frid, Eva Giralt-Steinhauer, Lukas Holmegaard, Jaume Roquer, Johan Wasselius, John W. Cole, Patrick F. McArdle, Joseph P. Broderick, Jordi Jimenez-Conde, Christina Jern, Brett M. Kissela, Dawn O. Kleindorfer, Robin Lemmens, Arne Lindgren, James F. Meschia, Tatjana Rundek, Ralph L. Sacco, Reinhold Schmidt, Pankaj Sharma, Agnieszka Slowik, Vincent Thijs, Daniel Woo, Bradford B. Worrall, Steven J. Kittner, Braxton D. Mitchell, Jonathan Rosand, Polina Golland, Ona Wu, Natalia S. Rost; On behalf of MRI-GENIE
First published August 24, 2017, DOI: https://doi.org/10.1212/NXG.0000000000000180
Anne-Katrin Giese
Author affiliations are provided at the end of the article.
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Markus D. Schirmer
PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Kathleen L. Donahue
BS
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Lisa Cloonan
BA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Robert Irie
PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Stefan Winzeck
MS
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Mark J.R.J. Bouts
PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Elissa C. McIntosh
MA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Steven J. Mocking
MSc
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Adrian V. Dalca
PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Ramesh Sridharan
PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Huichun Xu
MD, PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Petrea Frid
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Eva Giralt-Steinhauer
MD, PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Lukas Holmegaard
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Jaume Roquer
MD, PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Johan Wasselius
MD, PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
John W. Cole
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Patrick F. McArdle
PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Joseph P. Broderick
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Jordi Jimenez-Conde
MD, PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Christina Jern
MD, PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Brett M. Kissela
MD, MS
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Dawn O. Kleindorfer
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Robin Lemmens
MD, PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Arne Lindgren
MD, PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
James F. Meschia
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Tatjana Rundek
MD, PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Ralph L. Sacco
MD, MS
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Reinhold Schmidt
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Pankaj Sharma
MD, PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Agnieszka Slowik
MD, PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Vincent Thijs
MD, PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Daniel Woo
MD, MS
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Bradford B. Worrall
MD, MSc
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Steven J. Kittner
MD, MPH
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Braxton D. Mitchell
PhD, MPH
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Jonathan Rosand
MD, MSc
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Polina Golland
PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Ona Wu
PhD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Natalia S. Rost
MD, MPH
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Full PDF
Citation
Design and rationale for examining neuroimaging genetics in ischemic stroke
The MRI-GENIE study
Anne-Katrin Giese, Markus D. Schirmer, Kathleen L. Donahue, Lisa Cloonan, Robert Irie, Stefan Winzeck, Mark J.R.J. Bouts, Elissa C. McIntosh, Steven J. Mocking, Adrian V. Dalca, Ramesh Sridharan, Huichun Xu, Petrea Frid, Eva Giralt-Steinhauer, Lukas Holmegaard, Jaume Roquer, Johan Wasselius, John W. Cole, Patrick F. McArdle, Joseph P. Broderick, Jordi Jimenez-Conde, Christina Jern, Brett M. Kissela, Dawn O. Kleindorfer, Robin Lemmens, Arne Lindgren, James F. Meschia, Tatjana Rundek, Ralph L. Sacco, Reinhold Schmidt, Pankaj Sharma, Agnieszka Slowik, Vincent Thijs, Daniel Woo, Bradford B. Worrall, Steven J. Kittner, Braxton D. Mitchell, Jonathan Rosand, Polina Golland, Ona Wu, Natalia S. Rost
Neurol Genet Oct 2017, 3 (5) e180; DOI: 10.1212/NXG.0000000000000180

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Permissions

Make Comment

See Comments

Downloads
989

Share

  • Article
  • Figures & Data
  • Info & Disclosures
Loading

Abstract

Objective: To describe the design and rationale for the genetic analysis of acute and chronic cerebrovascular neuroimaging phenotypes detected on clinical MRI in patients with acute ischemic stroke (AIS) within the scope of the MRI–GENetics Interface Exploration (MRI-GENIE) study.

Methods: MRI-GENIE capitalizes on the existing infrastructure of the Stroke Genetics Network (SiGN). In total, 12 international SiGN sites contributed MRIs of 3,301 patients with AIS. Detailed clinical phenotyping with the web-based Causative Classification of Stroke (CCS) system and genome-wide genotyping data were available for all participants. Neuroimaging analyses include the manual and automated assessments of established MRI markers. A high-throughput MRI analysis pipeline for the automated assessment of cerebrovascular lesions on clinical scans will be developed in a subset of scans for both acute and chronic lesions, validated against gold standard, and applied to all available scans. The extracted neuroimaging phenotypes will improve characterization of acute and chronic cerebrovascular lesions in ischemic stroke, including CCS subtypes, and their effect on functional outcomes after stroke. Moreover, genetic testing will uncover variants associated with acute and chronic MRI manifestations of cerebrovascular disease.

Conclusions: The MRI-GENIE study aims to develop, validate, and distribute the MRI analysis platform for scans acquired as part of clinical care for patients with AIS, which will lead to (1) novel genetic discoveries in ischemic stroke, (2) strategies for personalized stroke risk assessment, and (3) personalized stroke outcome assessment.

GLOSSARY

ADC=
apparent diffusion coefficient;
AIS=
acute ischemic stroke;
CE=
cardioembolic;
CCS=
Causative Classification of Stroke;
CCSc=
causative CCS;
DICOM=
Digital Imaging and Communications in Medicine;
DWI=
diffusion-weighted imaging;
DWIv=
DWI volume;
FLAIR=
fluid-attenuated inversion recovery;
GISCOME=
Genetics of Ischemic Stroke Functional Outcome;
GWAS=
genome-wide association studies;
ICC=
intraclass correlation coefficient;
LAA=
large artery atherosclerosis;
MGH=
Massachusetts General Hospital;
MRI-GENIE=
MRI–GENetics Interface Exploration;
mRS=
modified Rankin Scale;
PHI=
protected health information;
QC=
quality control;
SAO=
small artery occlusion;
SiGN=
Stroke Genetics Network;
SNP=
single nucleotide polymorphism;
SWI=
susceptibility-weighted imaging;
TOAST=
Trial of Org 10172 Acute Stroke Treatment;
VLSM=
voxel-based lesion–symptom mapping;
WMHv=
white matter hyperintensity volume;
XNAT=
eXtensible Neuroimaging Archive Toolkit

Footnotes

  • ↵* These authors contributed equally to the manuscript.

  • Funding information and disclosures are provided at the end of the article. Go to Neurology.org/ng for full disclosure forms. The Article Processing Charge was funded by the NIH.

  • Supplemental data at Neurology.org/ng

  • Received March 9, 2017.
  • Accepted in final form June 30, 2017.
  • Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

View Full Text

Letters: Rapid online correspondence

No comments have been published for this article.
Comment

REQUIREMENTS

You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.

Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.

If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.

Submission specifications:

  • Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
  • Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
  • Submit only on articles published within 6 months of issue date.
  • Do not be redundant. Read any comments already posted on the article prior to submission.
  • Submitted comments are subject to editing and editor review prior to posting.

More guidelines and information on Disputes & Debates

Compose Comment

More information about text formats

Plain text

  • No HTML tags allowed.
  • Web page addresses and e-mail addresses turn into links automatically.
  • Lines and paragraphs break automatically.
Author Information
NOTE: The first author must also be the corresponding author of the comment.
First or given name, e.g. 'Peter'.
Your last, or family, name, e.g. 'MacMoody'.
Your email address, e.g. higgs-boson@gmail.com
Your role and/or occupation, e.g. 'Orthopedic Surgeon'.
Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.
Publishing Agreement
NOTE: All authors, besides the first/corresponding author, must complete a separate Publishing Agreement Form and provide via email to the editorial office before comments can be posted.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.

Vertical Tabs

You May Also be Interested in

Back to top
  • Article
    • Abstract
    • GLOSSARY
    • METHODS
    • CONCLUSIONS
    • AUTHOR AFFILIATIONS
    • AUTHOR CONTRIBUTIONS
    • STUDY FUNDING
    • DISCLOSURE
    • ACKNOWLEDGMENT
    • Footnotes
    • REFERENCES
  • Figures & Data
  • Info & Disclosures
Advertisement

Association of Mediterranean-DASH Intervention for Neurodegenerative Delay and Mediterranean Diets With Alzheimer Disease Pathology

Dr. Babak Hooshmand and Dr. David Smith

► Watch

Topics Discussed

  • All Cerebrovascular disease/Stroke
  • MRI
  • Association studies in genetics

Alert Me

  • Alert me when eletters are published

Recommended articles

  • Article
    White matter hyperintensity burden in acute stroke patients differs by ischemic stroke subtype
    Anne-Katrin Giese, Markus D. Schirmer, Adrian V. Dalca et al.
    Neurology, June 03, 2020
  • Abstracts
    19th Workshop of the International Stroke Genetics Consortium, April 28–29, 2016, Boston, Massachusetts, USA
    et al.
    Neurology: Genetics, March 30, 2017
  • Articles
    Subtypes of ischemic stroke in children and young adults
    L. S. Williams, B. P. Garg, M. Cohen et al.
    Neurology, December 01, 1997
  • Abstracts
    Proceedings of the 25th International Stroke Genetics Consortium Workshop: Cambridge, UK
    Jemma C. Hopewell, Matthew Traylor, Hugh S. Markus et al.
    Neurology: Genetics, May 21, 2020
Neurology Genetics: 9 (5)

Articles

  • Articles
  • Issues
  • Popular Articles

About

  • About the Journals
  • Ethics Policies
  • Editors & Editorial Board
  • Contact Us
  • Advertise

Submit

  • Author Center
  • Submit a Manuscript
  • Information for Reviewers
  • AAN Guidelines
  • Permissions

Subscribers

  • Subscribe
  • Sign up for eAlerts
  • RSS Feed
Site Logo
  • Visit neurology Template on Facebook
  • Follow neurology Template on Twitter
  • Visit Neurology on YouTube
  • Neurology
  • Neurology: Clinical Practice
  • Neurology: Education
  • Neurology: Genetics
  • Neurology: Neuroimmunology & Neuroinflammation
  • AAN.com
  • AANnews
  • Continuum
  • Brain & Life
  • Neurology Today

Wolters Kluwer Logo

Neurology: Genetics | Online ISSN: 2376-7839

© 2023 American Academy of Neurology

  • Privacy Policy
  • Feedback
  • Advertise