Journal Mobile Options
Table of Contents
Vol. 33, No. 2-3, 2012
Issue release date: June 2012
Section title: Original Research Article
Dement Geriatr Cogn Disord 2012;33:132–140
(DOI:10.1159/000338394)

Different Clinical Phenotypes in Siblings with a Presenilin-1 P264L Mutation

Ishizuka T. · Nakamura M. · Ichiba M. · Fujita S. · Takeuchi K. · Fujimoto T. · Sano A.
aDepartment of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, bDepartment of Radiology, Fujimoto Hayasuzu Hospital, and cDepartment of Psychiatry, Fujimoto Hospital, Miyazaki, Japan

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

  • Automatic perpetual access to all articles of the subscribed year(s)
  • 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 Research Article

Accepted: 3/28/2012
Published online: 5/8/2012

Number of Print Pages: 9
Number of Figures: 6
Number of Tables: 0

ISSN: 1420-8008 (Print)
eISSN: 1421-9824 (Online)

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

Abstract

Background: Mutations in the presenilin-1 gene (PSEN1) have been identified in autosomal dominant early-onset cases of Alzheimer’s disease (AD). Aims: To investigate different clinical phenotypes of siblings possessing the same heterozygous P264L mutation in the PSEN1 gene. Methods: We evaluated clinical features, neuroimaging results, and neuropsychological examinations. The PSEN1 gene and other dementia-related gene mutations were screened. Results: We clinically diagnosed the proband as atypical AD with frontotemporal dementia features and diagnosed the elder brother of the proband as typical AD, based on neuropsychological symptoms and a brain imaging examination including amyloid imaging data. A heterozygous P264L mutation in the PSEN1 gene was identified in both siblings. Conclusion: This study is one of few reports of AD siblings possessing the same mutation but exhibiting different clinical phenotypes in a Japanese family possessing a P264L mutation in the PSEN1 gene. The current results suggest that unknown modifiers, including both genetic and epigenetic factors, may alter the pathological and clinical phenotypes of a genetically predetermined disease.


  

Author Contacts

Akira Sano, MD, PhD
Department of Psychiatry
Kagoshima University Graduate School of Medical and Dental Sciences
Kagoshima University, 8-35-1 Sakuragaoka, Kagoshima 890-8520 (Japan)
Tel. +81 99 275 5346, E-Mail sano@m3.kufm.kagoshima-u.ac.jp

  

Article Information

T.I. and M.N.contributed equally to this study.

Accepted: March 28, 2012
Published online: May 8, 2012
Number of Print Pages : 9
Number of Figures : 6, Number of Tables : 0, Number of References : 52

  

Publication Details

Dementia and Geriatric Cognitive Disorders

Vol. 33, No. 2-3, Year 2012 (Cover Date: June 2012)

Journal Editor: Chan-Palay V. (Boston, Mass.)
ISSN: 1420-8008 (Print), eISSN: 1421-9824 (Online)

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


Article / Publication Details

First-Page Preview
Abstract of Original Research Article

Accepted: 3/28/2012
Published online: 5/8/2012

Number of Print Pages: 9
Number of Figures: 6
Number of Tables: 0

ISSN: 1420-8008 (Print)
eISSN: 1421-9824 (Online)

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


Copyright / Drug Dosage

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 goverment 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.