Skip to main content
Advertisement
  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Education
    • Genetics
    • Neuroimmunology & Neuroinflammation
  • Online Sections
    • Neurology Video Journal Club
    • Inclusion, Diversity, Equity, Anti-racism, & Social Justice (IDEAS)
    • Innovations in Care Delivery
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • COVID-19
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Neurology Future Forecasting Series
    • Null Hypothesis
    • Patient Pages
    • Topics A-Z
    • Translations
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit a Manuscript
    • Author Center

Advanced Search

Main menu

  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Education
    • Genetics
    • Neuroimmunology & Neuroinflammation
  • Online Sections
    • Neurology Video Journal Club
    • Inclusion, Diversity, Equity, Anti-racism, & Social Justice (IDEAS)
    • Innovations in Care Delivery
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • COVID-19
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Neurology Future Forecasting Series
    • Null Hypothesis
    • Patient Pages
    • Topics A-Z
    • Translations
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit a Manuscript
    • Author Center
  • Home
  • Latest Articles
  • Current Issue
  • Past Issues
  • Neurology Video Journal Club
  • Residents & Fellows

User menu

  • Subscribe
  • My Alerts
  • Log in

Search

  • Advanced search
Neurology
Home
The most widely read and highly cited peer-reviewed neurology journal
  • Subscribe
  • My Alerts
  • Log in
Site Logo
  • Home
  • Latest Articles
  • Current Issue
  • Past Issues
  • Neurology Video Journal Club
  • Residents & Fellows

Share

January 25, 2011; 76 (4) Articles

Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families

R.M. Hanna, S.E. Marsh, D. Swistun, L. Al-Gazali, M.S. Zaki, G.M. Abdel-Salam, A. Al-Tawari, L. Bastaki, H. Kayserili, A. Rajab, B. Boglárka, R.B. Dietrich, W.B. Dobyns, C.L. Truwit, S. Sattar, N.A. Chuang, E.H. Sherr, J.G. Gleeson
First published January 24, 2011, DOI: https://doi.org/10.1212/WNL.0b013e318208f492
R.M. Hanna
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
S.E. Marsh
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
D. Swistun
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
L. Al-Gazali
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
M.S. Zaki
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
G.M. Abdel-Salam
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
A. Al-Tawari
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
L. Bastaki
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
H. Kayserili
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
A. Rajab
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
B. Boglárka
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
R.B. Dietrich
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
W.B. Dobyns
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
C.L. Truwit
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
S. Sattar
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
N.A. Chuang
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
E.H. Sherr
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
J.G. Gleeson
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Full PDF
Citation
Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families
R.M. Hanna, S.E. Marsh, D. Swistun, L. Al-Gazali, M.S. Zaki, G.M. Abdel-Salam, A. Al-Tawari, L. Bastaki, H. Kayserili, A. Rajab, B. Boglárka, R.B. Dietrich, W.B. Dobyns, C.L. Truwit, S. Sattar, N.A. Chuang, E.H. Sherr, J.G. Gleeson
Neurology Jan 2011, 76 (4) 373-382; DOI: 10.1212/WNL.0b013e318208f492

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
6865

Share

This article has a correction. Please see:

  • Distinguishing 3 Classes of Corpus Callosal Abnormalities in Consanguineous Families - August 09, 2022
  • Article
  • Figures & Data
  • Info & Disclosures
Loading

This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.

Abstract

Objective: We sought to create a classification system for pediatric corpus callosal abnormalities (CCA) based upon midline sagittal brain MRI. We used the term CCA for patients with structural variants of the corpus callosum, excluding patients with interhemispheric cyst variant or pure dysplasia without hypoplasia. Currently, no system exists for nonsyndromic forms of CCA, and attempts to create such a system have been hampered by highly variable morphology in patients with sporadic CCA. We reasoned that any useful strategy should classify affected family members within the same type, and that phenotypic variability should be minimized in patients with recessive disease.

Methods: We focused recruitment toward multiplex consanguineous families, ascertained 30 patients from 19 consanguineous families, and analyzed clinical features together with brain imaging.

Results: We identified 3 major CCA classes, including hypoplasia, hypoplasia with dysplasia, and complete agenesis. Affected individuals within a given multiplex family usually displayed the same variant of the class of abnormality and they always displayed the same class of abnormality within each family, or they displayed complete agenesis. The system was validated among a second cohort of 10 sporadic patients with CCA.

Conclusions: The data suggest that complete agenesis may be a common end-phenotype, and implicate multiple overlapping pathways in the etiology of CCA.

Footnotes

  • Study funding: Supported by the NIH (K24 NS057382 and R01 NS NS48452 to J.G.G.).

  • Supplemental data at www.neurology.org

  • AC
    anterior commissure
    ACC
    agenesis of the corpus callosum
    CC
    corpus callosum
    CCA
    corpus callosal abnormalities
    GW
    weeks gestation
    PB
    Probst bundle
    UAE
    United Arab Emirates

  • Received August 4, 2009.
  • Accepted September 28, 2010.
  • Copyright © 2011 by AAN Enterprises, Inc.
View Full Text

AAN Members

We have changed the login procedure to improve access between AAN.com and the Neurology journals. If you are experiencing issues, please log out of AAN.com and clear history and cookies. (For instructions by browser, please click the instruction pages below). After clearing, choose preferred Journal and select login for AAN Members. You will be redirected to a login page where you can log in with your AAN ID number and password. When you are returned to the Journal, your name should appear at the top right of the page.

Google Safari Microsoft Edge Firefox

Click here to login

AAN Non-Member Subscribers

Click here to login

Purchase access

For assistance, please contact:
AAN Members (800) 879-1960 or (612) 928-6000 (International)
Non-AAN Member subscribers (800) 638-3030 or (301) 223-2300 option 3, select 1 (international)

Sign Up
Information on how to subscribe to Neurology and Neurology: Clinical Practice can be found here 

Purchase
Individual access to articles is available through the Add to Cart option on the article page.  Access for 1 day (from the computer you are currently using) is US$ 39.00.  Pay-per-view content is for the use of the payee only, and content may not be further distributed by print or electronic means.  The payee may view, download, and/or print the article for his/her personal, scholarly, research, and educational use.  Distributing copies (electronic or otherwise) of the article is not allowed.

Letters: Rapid online correspondence

No comments have been published for this article.
Comment

REQUIREMENTS

If you are uploading a letter concerning an article:
You must have updated your disclosures within six months: http://submit.neurology.org

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
    • METHODS
    • RESULTS
    • DISCUSSION
    • DISCLOSURE
    • ACKNOWLEDGMENT
    • Footnotes
    • REFERENCES
  • Figures & Data
  • Info & Disclosures
Advertisement

Hemiplegic Migraine Associated With PRRT2 Variations A Clinical and Genetic Study

Dr. Robert Shapiro and Dr. Amynah Pradhan

► Watch

Related Articles

  • Distinguishing 3 Classes of Corpus Callosal Abnormalities in Consanguineous Families

Topics Discussed

  • All Pediatric
  • All Genetics
  • Developmental disorders
  • Mental retardation
  • MRI

Alert Me

  • Alert me when eletters are published
Neurology: 100 (5)

Articles

  • Ahead of Print
  • Current Issue
  • Past Issues
  • Popular Articles
  • Translations

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
  • Activate a Subscription
  • 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 | Print ISSN:0028-3878
Online ISSN:1526-632X

© 2023 American Academy of Neurology

  • Privacy Policy
  • Feedback
  • Advertise