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
    • Translations
    • Topics A-Z
  • 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
    • Translations
    • Topics A-Z
  • 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

August 2022; 8 (4) Clinical/Scientific NoteOpen Access

Familial Brain Calcifications With Leukoencephalopathy

A Novel PDGFB Variant

Jack Shen, Amelle Shillington, Alberto J. Espay, View ORCID ProfileEmily J. Hill
First published May 20, 2022, DOI: https://doi.org/10.1212/NXG.0000000000200001
Jack Shen
From the Department of Neurology and Rehabilitation Medicine (J.S., A.J.E., E.J.H.), University of Cincinnati; and Department of Human Genetics (A.S.), Cincinnati Children's Hospital Medical Center, OH.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • For correspondence: shenjk@ucmail.uc.edu
Amelle Shillington
From the Department of Neurology and Rehabilitation Medicine (J.S., A.J.E., E.J.H.), University of Cincinnati; and Department of Human Genetics (A.S.), Cincinnati Children's Hospital Medical Center, OH.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • For correspondence: amelle.shillington@cchmc.org
Alberto J. Espay
From the Department of Neurology and Rehabilitation Medicine (J.S., A.J.E., E.J.H.), University of Cincinnati; and Department of Human Genetics (A.S.), Cincinnati Children's Hospital Medical Center, OH.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • For correspondence: espayaj@ucmail.uc.edu
Emily J. Hill
From the Department of Neurology and Rehabilitation Medicine (J.S., A.J.E., E.J.H.), University of Cincinnati; and Department of Human Genetics (A.S.), Cincinnati Children's Hospital Medical Center, OH.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Emily J. Hill
Full PDF
Citation
Familial Brain Calcifications With Leukoencephalopathy
A Novel PDGFB Variant
Jack Shen, Amelle Shillington, Alberto J. Espay, Emily J. Hill
Neurol Genet Aug 2022, 8 (4) e200001; DOI: 10.1212/NXG.0000000000200001

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
343

Share

  • Article
  • Figures & Data
  • Info & Disclosures
Loading

Article Information

vol. 8 no. 4 e200001
DOI: 
https://doi.org/10.1212/NXG.0000000000200001

Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received January 17, 2022
  • Accepted in final form April 19, 2022
  • First Published May 20, 2022.

Copyright & Usage: 
Copyright © 2022 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.

Author Disclosures

    1. Jack Shen, MD, MBS (shenjk{at}ucmail.uc.edu),
    2. Amelle Shillington, DO (amelle.shillington{at}cchmc.org),
    3. Alberto J. Espay, MD, MSc (espayaj{at}ucmail.uc.edu) and
    4. Emily J. Hill, MD
  1. Jack Shen, MD, MBS (shenjk{at}ucmail.uc.edu),
  2. Amelle Shillington, DO (amelle.shillington{at}cchmc.org),
  3. Alberto J. Espay, MD, MSc (espayaj{at}ucmail.uc.edu) and
  4. Emily J. Hill, MD
  1. From the Department of Neurology and Rehabilitation Medicine (J.S., A.J.E., E.J.H.), University of Cincinnati; and Department of Human Genetics (A.S.), Cincinnati Children's Hospital Medical Center, OH.
  1. Correspondence
    Dr. Hill hill2e9{at}ucmail.uc.edu
View Full Text

Article usage

Article usage: May 2022 to April 2023

AbstractFullPdfSource
May 2022725245Highwire
Jun 2022321362Highwire
Jul 2022417441Highwire
Aug 2022320238Highwire
Sep 2022211724Highwire
Oct 2022411021Highwire
Nov 2022711839Highwire
Dec 202246511Highwire
Jan 202366311Highwire
Feb 202316117Highwire
Mar 202307918Highwire
Apr 202345416Highwire

Cited By...

  • 1 Citations
  • Google Scholar

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
    • Case Report
    • Discussion
    • Study Funding
    • Disclosure
    • Appendix Authors
    • Footnotes
    • References
  • Figures & Data
  • Info & Disclosures
Advertisement

Safety and Efficacy of Tenecteplase and Alteplase in Patients With Tandem Lesion Stroke: A Post Hoc Analysis of the EXTEND-IA TNK Trials

Dr. Nicole Sur and Dr. Mausaminben Hathidara

► Watch

Related Articles

  • No related articles found.

Topics Discussed

  • All Imaging
  • Parkinson's disease/Parkinsonism

Alert Me

  • Alert me when eletters are published
Neurology Genetics: 9 (3)

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