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BMC Neurology
Published in: BMC Neurology 1/2014

Open Access 01-12-2014 | Case report

Probable novel PSEN2 Val214Leu mutation in Alzheimer’s disease supported by structural prediction

Authors: Young Chul Youn, Eva Bagyinszky, HyeRyoun Kim, Byung-Ok Choi, Seong Soo An, SangYun Kim

Published in: BMC Neurology | Issue 1/2014

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Abstract

Background

PSEN2 mutations are rare variants, and fewer than 30 different PSEN2 mutations have been found. So far, it has not been reported in Asia.

Case presentation

PSEN2 mutation at codon 214 for predicting a valine to leucine substitution was found in a 70-year-old woman, who showed a dementia of the Alzheimer type. We did not find the mutation in 614 control chromosomes. We also predicted the structures of presenilin 2 protein with native Val 214 residue and Leu 214 mutation, which revealed significant structural changes in the region.

Conclusion

It could be a novel mutation verified with structural prediction in a patient with Alzheimer’s disease.
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Metadata
Title
Probable novel PSEN2 Val214Leu mutation in Alzheimer’s disease supported by structural prediction
Authors
Young Chul Youn
Eva Bagyinszky
HyeRyoun Kim
Byung-Ok Choi
Seong Soo An
SangYun Kim
Publication date
01-12-2014
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2014
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/1471-2377-14-105

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