Skip to main content
Advertisement
  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Genetics
    • Neuroimmunology & Neuroinflammation
  • Specialty Sites
    • COVID-19
    • Practice Current
    • Practice Buzz
    • Without Borders
    • Equity, Diversity and Inclusion
    • Innovations in Care Delivery
  • Collections
    • Topics A-Z
    • Residents & Fellows
    • Infographics
    • Patient Pages
    • Null Hypothesis
    • 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
    • Genetics
    • Neuroimmunology & Neuroinflammation
  • Specialty Sites
    • COVID-19
    • Practice Current
    • Practice Buzz
    • Without Borders
    • Equity, Diversity and Inclusion
    • Innovations in Care Delivery
  • Collections
    • Topics A-Z
    • Residents & Fellows
    • Infographics
    • Patient Pages
    • Null Hypothesis
    • Translations
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit a Manuscript
    • Author Center
  • Home
  • Latest Articles
  • Current Issue
  • Past Issues
  • 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
  • Residents & Fellows

Share

April 06, 2015; 84 (14 Supplement) April 22, 2015

GRN-related Frontotemporal Lobar Degeneration TDP43 Type A presenting as a case of Posterior Cortical Atrophy (P5.013)

Sara Mitchell, Diane Lucente, Mykol Larvie, Matthew Frosch, Bradford Dickerson
First published April 8, 2015,
Sara Mitchell
2MGH Frontotemporal Disorders Unit, Department of Neurology/ Department of Psychiatry Massachusetts General Hospital/ Harvard Medical School Boston MA United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Diane Lucente
3Center for Human Genetic Research Massachusetts General Hospital/Harvard medical school Boston MA United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Mykol Larvie
4Department of Radiology Masschusetts General Hospital Boston MA United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Matthew Frosch
1Charlestown MA United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Bradford Dickerson
1Charlestown MA United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Citation
GRN-related Frontotemporal Lobar Degeneration TDP43 Type A presenting as a case of Posterior Cortical Atrophy (P5.013)
Sara Mitchell, Diane Lucente, Mykol Larvie, Matthew Frosch, Bradford Dickerson
Neurology Apr 2015, 84 (14 Supplement) P5.013;

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
0

Share

  • Article
  • Info & Disclosures
Loading

Abstract

OBJECTIVE: To expand the spectrum of clinical phenotypes associated with frontotemporal lobar degeneration (FTLD) pathology, describing to our knowledge the first case of a classical posterior cortical atrophy (PCA) syndrome. BACKGROUND: PCA is a clinicoradiologic syndrome characterized by progressive decline in visual processing skills with relatively intact memory in the early stages, and atrophy of posterior brain regions. It is generally regarded as a focal presentation of Alzheimer’s disease (AD) since most patients have amyloid plaques and neurofibrillary tangles, although less commonly Lewy Body pathology, corticobasal degeneration and even prion disease have been reported. DESIGN/METHODS: We describe the clinical and neuroimaging features of a case of PCA with surprising pathologic and genetic findings. RESULTS: A 63-year-old right-handed male presented with a 4-year history of insidious onset and progression of visual symptoms with mild word-finding difficulty and a right homonymous hemianopia evident on neurologic examination. A SPECT scan revealed asymmetric left occipitoparietal hypoperfusion. His father died of dementia in his 50s, clinically diagnosed as AD. The patient died 5 years after diagnosis and an autopsy confirmed FTLD with TDP-43 Type A inclusions (FTLD-TDP43A). Based on the pathologic findings, molecular genetic analysis was conducted and yielded a deletion in the progranulin (GRN) gene at exon 7, a known pathogenic mutation. CONCLUSIONS: Although it is well-known that GRN-related FTLD is associated with asymmetric parietal atrophy in addition to frontal and anterior temporal atrophy, we believe this is the first reported pathologically proven case of FTLD presenting as PCA.. It is interesting to speculate that as-yet-undiscovered genetic or other factors that may predispose to a posterior predominance of AD pathology in the most common form of PCA may also have been present in this patient, predisposing to TDP43A pathology with an occipitoparietal lobar degeneration topography. Supported by R21NS084156, R21NS077059, P50-AG005134

Disclosure: Dr. Mitchell has nothing to disclose. Dr. Lucente has nothing to disclose. Dr. Larvie has nothing to disclose. Dr. Frosch has received royalty payments from Elsevier. Dr. Dickerson has received personal compensation for activities with Pfizer, Inc., En Vivo, and Merck.

Wednesday, April 22 2015, 2:00 pm-6:30 pm

  • Copyright © 2015 by AAN Enterprises, Inc.

Disputes & Debates: Rapid online correspondence

No comments have been published for this article.
Comment

NOTE: All authors' disclosures must be entered and current in our database before comments can be posted. Enter and update disclosures at http://submit.neurology.org. Exception: replies to comments concerning an article you originally authored do not require updated disclosures.

  • Stay timely. Submit only on articles published within the last 8 weeks.
  • Do not be redundant. Read any comments already posted on the article prior to submission.
  • 200 words maximum.
  • 5 references maximum. Reference 1 must be the article on which you are commenting.
  • 5 authors maximum. Exception: replies can include all original authors of the article.
  • 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 Disputes & Debates Submission 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
  • Info & Disclosures
Advertisement

Related Articles

  • No related articles found.

Alert Me

  • Alert me when eletters are published
Neurology: 96 (8)

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: Genetics
  • Neurology: Neuroimmunology & Neuroinflammation
  • AAN.com
  • AANnews
  • Continuum
  • Brain & Life
  • Neurology Today

Wolters Kluwer Logo

Neurology | Print ISSN:0028-3878
Online ISSN:1526-632X

© 2021 American Academy of Neurology

  • Privacy Policy
  • Feedback
  • Advertise