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. 62 No. 1, January 2005 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
 •Citation map
 •Citing articles on HighWire
 •Citing articles on Web of Science (15)
 •Contact me when this article is cited
 Related Content
 •Similar articles in this journal
 Topic Collections
 •Neurogenetics
 •Movement Disorders
 •Parkinson Disease/ Parkinsonian Disorders
 •Genetic Disorders
 •Alert me on articles by topic
 Social Bookmarking
  Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit Add to Technorati Add to Twitter What's this?

Failure to Find {alpha}-Synuclein Gene Dosage Changes in 190 Patients With Familial Parkinson Disease

Suzana Gispert, PhD; Claudia Trenkwalder, MD; Luisa Mota-Vieira, PhD; Vladimir Kostic, MD; Georg Auburger, MD

Arch Neurol. 2005;62:96-98.

Background  Recently, a triplication of the {alpha}-synuclein locus was found associated with autosomal dominant Parkinson disease in a large family.

Objective  To determine whether a triplication or some other dosage alteration in the {alpha}-synuclein gene is pres-ent in one or more patients with familial PD in a large multinational collective.

Design  Retrospective recruitment of the largest families who were willing to cooperate with the study.

Setting  Centers with specialization in movement disorders genetics.

Patients  One hundred ninety unrelated patients with familial PD from Germany, Portugal, and Yugoslavia.

Main Outcome Measures  {alpha}-Synuclein gene dosage values measured with real-time polymerase chain reaction.

Results  None of the samples showed {alpha}-synuclein triplication, duplication, or deletion.

Conclusion  Alterations in {alpha}-synuclein gene dosage are rare in familial PD.


Author Affiliations: From the Institute for Experimental Neurobiology (Dr Gispert) and Section of Molecular Neurogenetics, Clinic for Neurology (Dr Auburger), University Hospital, Frankfurt/Main, Germany; Paracelsus Elena Clinic, Kassel, Germany (Dr Trenkwalder); Genetics and Molecular Pathology Unit, Hospital of Divino Espírito Santo, Ponta Delgada, Azores, Portugal (Dr Mota-Vieira); and Institute of Neurology, Clinical Center at Serbia, Belgrade, Yugoslavia (Dr Kostic).



Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati   Add to Twitter Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

{alpha}-Synuclein Gene Rearrangements in Dominantly Inherited Parkinsonism: Frequency, Phenotype, and Mechanisms
Ibanez et al.
Arch Neurol 2009;66:102-108.
ABSTRACT | FULL TEXT  





HOME | CURRENT ISSUE | PAST ISSUES | TOPIC COLLECTIONS | CME | SUBMIT | SUBSCRIBE | HELP
CONDITIONS OF USE | PRIVACY POLICY | CONTACT US | SITE MAP
 
© 2005 American Medical Association. All Rights Reserved.