Genetic variants in presenilins and correlation to amyloid-beta 42 levels in cerebrospinal fluid and diagnosis of Alzheimer's disease

von Arnim, Christine A. F., Lebedeva, Elena, Thal, Dietmar, Ghebremedhin, Estifanos, Strauss, Joachim, Özer, Esra, von Einem, Björn, Tumani, Hayrettin, Otto, Markus, Riepe, Matthias W., Ludolph, Albert C. and Kirchheiner, Julia (2009). Genetic variants in presenilins and correlation to amyloid-beta 42 levels in cerebrospinal fluid and diagnosis of Alzheimer's disease. In: Alzheimer's Association International Conference on Alzheimer's Disease. Abstracts. ICAD 2009: Alzheimer's Association International Conference on Alzheimer's Disease, Vienna, Austria, (P465-P465). 11-16 July 2009. doi:10.1016/j.jalz.2009.04.783


Author von Arnim, Christine A. F.
Lebedeva, Elena
Thal, Dietmar
Ghebremedhin, Estifanos
Strauss, Joachim
Özer, Esra
von Einem, Björn
Tumani, Hayrettin
Otto, Markus
Riepe, Matthias W.
Ludolph, Albert C.
Kirchheiner, Julia
Title of paper Genetic variants in presenilins and correlation to amyloid-beta 42 levels in cerebrospinal fluid and diagnosis of Alzheimer's disease
Conference name ICAD 2009: Alzheimer's Association International Conference on Alzheimer's Disease
Conference location Vienna, Austria
Conference dates 11-16 July 2009
Proceedings title Alzheimer's Association International Conference on Alzheimer's Disease. Abstracts   Check publisher's open access policy
Journal name Alzheimer's and Dementia   Check publisher's open access policy
Place of Publication Chicago, IL, U.S.A.
Publisher Elsevier
Publication Year 2009
Sub-type Published abstract
DOI 10.1016/j.jalz.2009.04.783
ISSN 1552-5260
1552-5279
Volume 5
Issue 4 Supp. 1
Start page P465
End page P465
Language eng
Formatted Abstract/Summary
Background: Aim of this study was to assess genetic variability in human presenilin 1 and 2 (PSEN) genes in Alzheimer's disease (AD) patients in relation to β-amyloid 42 (Aβ42) levels in cerebrospinal fluid (CSF) and clinical symptoms. We hypothesized that by specific phenotyping through biomarkers the chance of identifying novel disease-modifying genetic variations might be increased.

Conclusions: While non-synonymous mutations of PSEN1 and PSEN2 were found only sporadically, haplotype analysis of PSEN2 revealed associations with the level of Aβ42 in early-onset and late-onset AD patients. The underrepresentation of haplotype 4/4 among AD patients and lack of β-amyloid deposits in brain autopsy samples from 4/4 carriers might point to a potentially protective effect of this haplotype on amyloid plaques formation.
Q-Index Code EX
Q-Index Status Provisional Code
Institutional Status Non-UQ
Additional Notes Publication date: July 2009. Published under "Poster Presentations P4" as Poster Abstract P4-115.

Document type: Conference Paper
Collection: School of Biomedical Sciences Publications
 
Versions
Version Filter Type
Citation counts: Google Scholar Search Google Scholar
Created: Fri, 22 Jul 2011, 17:09:16 EST by Dr Estifanos Ghebremedhin on behalf of School of Biomedical Sciences