Journal Mobile Options
Table of Contents
Vol. 3, No. 3, 2006
Issue release date: September 2006
Section title: Original Paper
Neurodegenerative Dis 2006;3:129–133
(DOI:10.1159/000094771)

Genetic Variability in CHMP2B and Frontotemporal Dementia

Momeni P.a · Rogaeva E.b · van Deerlin V.c · Yuan W.c · Grafman J.d · Tierney M.d · Huey E.d · Bell J.a · Morris C.M.e, f · Kalaria R.N.e · van Rensburg S.J.g · Niehaus D.g · Potocnik F.g · Kawarai T.b · Salehi-Rad S.b · Sato C.b · St. George-Hyslop P.b · Hardy J.a
aLaboratory of Neurogenetics, National Institute on Aging, Bethesda, Md., USA; bCentre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Canada; cCenter for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pa., dCognitive Neuroscience Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Md., USA; eInstitute for Health and Ageing, Newcastle General Hospital, fHealth Protection Agency, Chemical Hazards and Poisons Division, Wolfson Unit of Chemical Pharmacology, Newcastle upon Tyne, UK; gDepartment of Psychiatry, University of Stellenbosch, Tygerberg, South Africa

Do you have an account?

Register and profit from personalized services (MyKarger) Login Information

Please create your User ID & Password





Contact Information









I have read the Karger Terms and Conditions and agree.

Register and profit from personalized services (MyKarger) Login Information

Please create your User ID & Password





Contact Information









I have read the Karger Terms and Conditions and agree.

To view the fulltext, please log in

To view the pdf, please log in

Buy

  • FullText & PDF
  • Unlimited re-access via MyKarger (new!)
  • Unrestricted printing, no saving restrictions for personal use
  • Reduced rates with a PPV account
read more

Direct: USD 38.00
Account: USD 26.50

Select

Rent/Cloud

  • Rent for 48h to view
  • Buy Cloud Access for unlimited viewing via different devices
  • Synchronizing in the ReadCube Cloud
  • Printing and saving restrictions apply

Rental: USD 8.50
Cloud: USD 20.00

Select

Subscribe

  • Access to all articles of the subscribed year(s) guaranteed for 5 years
  • Unlimited re-access via Subscriber Login or MyKarger
  • Unrestricted printing, no saving restrictions for personal use
read more

Subcription rates


Select


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: 9/8/2006
Issue release date: September 2006

Number of Print Pages: 5
Number of Figures: 1
Number of Tables: 2

ISSN: 1660-2854 (Print)
eISSN: 1660-2862 (Online)

For additional information: http://www.karger.com/NDD

Abstract

A nonsense/protein chain-terminating mutation in the CHMP2B gene has recently been reported as a cause of frontotemporal dementia (FTD) in the single large family known to show linkage to chromosome 3. Screening for mutations in this gene in a large series of FTD families and individual patients led to the identification of a protein-truncating mutation in 2 unaffected members of an Afrikaner family with FTD, but not in their affected relatives. The putative pathogenicity of CHMP2B mutations for dementia is discussed.

© 2006 S. Karger AG, Basel


  

Article Information

Received: March 11, 2006
Accepted after revision: April 24, 2006
Number of Print Pages : 5
Number of Figures : 1, Number of Tables : 2, Number of References : 8

  

Publication Details

Neurodegenerative Diseases

Vol. 3, No. 3, Year 2006 (Cover Date: September 2006)

Journal Editor: Nitsch, R.M. (Zürich)
ISSN: 1660–2854 (print), 1660–2862 (Online)

For additional information: http://www.karger.com/NDD


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: 9/8/2006
Issue release date: September 2006

Number of Print Pages: 5
Number of Figures: 1
Number of Tables: 2

ISSN: 1660-2854 (Print)
eISSN: 1660-2862 (Online)

For additional information: http://www.karger.com/NDD


Copyright / Drug Dosage / Disclaimer

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.