You are seeing this message because your Web browser does not support basic Web standards. Find out more about why this message is appearing and what you can do to make your experience on this site better.


ABOUT ARCHIVES
Advanced Search

Welcome   | My Account | E-mail Alerts | Access Rights | Sign In


  Vol. 65 No. 3, March 2008 TABLE OF CONTENTS
  Archives
  •  Online Features
  Original Contribution
 This Article
 •Full text
 •PDF
 • Reply to article
 •Send to a friend
 • Save in My Folder
 •Save to citation manager
 •Permissions
 Citing Articles
 •Contact me when this article is cited
 Related Content
 •Similar articles in this journal
 Topic Collections
 •Genetics, Other
 •Neurogenetics
 •Motor Neuron Disease
 •Alert me on articles by topic

A Locus for Primary Lateral Sclerosis on Chromosome 4ptel-4p16.1

Paul N. Valdmanis, BSc; Nicolas Dupré, MD, MSc; Guy A. Rouleau, MD, PhD

Arch Neurol. 2008;65(3):383-386.

Background  Primary lateral sclerosis (PLS) is an adult-onset upper motor neuron disease resulting in spinal and bulbar spasticity. A family with 8 individuals diagnosed with PLS was previously reported.

Objective  To identify a locus for a large family with PLS.

Methods  A 550-marker whole-genome scan was performed on this family followed by fine mapping with sequence-tagged site markers to identify a candidate region.

Results  A locus was identified for this family between the telomere of chromosome 4 and marker D4S2928 (4ptel-4p16.1). A maximum lod score of 3.01 was obtained for marker D4S2936. The region spans 23.17 cM (10.2 megabase pairs) and encompasses 130 genes.

Conclusions  PLS1 does not map near any other identified loci for upper or lower motor neuron diseases and thus represents a novel locus for PLS.


Author Affiliations: Department of Human Genetics, McGill University, Montreal (Mr Valdmanis); Department of Neurological Sciences, Laval University, Centre Hospitalier Affilié Universitaire de Québec–Enfant-Jésus, Quebec City (Dr Dupré); and Center of Excellence in Neuromics, University of Montreal, and le Centre Hospitalier de l’Université de Montréal Research Center–Notre-Dame Hospital, Montreal (Mr Valdmanis and Drs Dupré and Rouleau), Quebec, Canada.







HOME | CURRENT ISSUE | PAST ISSUES | TOPIC COLLECTIONS | CME | SUBMIT | SUBSCRIBE | HELP
CONDITIONS OF USE | PRIVACY POLICY | CONTACT US | SITE MAP
 
© 2008 American Medical Association. All Rights Reserved.