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Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction

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Authors
An, Seong Soo A.; Bagyinszky, Eva; Kim, Hye Ryoun; Seok, Ju-Won; Shin, Hae-Won; Bae, SeunOh; Kim, SangYun; Youn, Young Chul
Issue Date
2016-05-20
Publisher
BioMed Central
Citation
BMC Neurology, 16(1):71
Keywords
Alzheimer's diseasePresenilin 1 mutationPresenilin 1 protein structureNovel mutationStructural prediction
Description
This article is distributed under the terms of the Creative Commons Attribution 4.0
International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and
reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to
the Creative Commons license, and indicate if changes were made.
Abstract
Abstract

Background
Three main genes are described as causative genes for early-onset Alzheimer dementia (EOAD): APP, PSEN1 and PSEN2. We describe a woman with EOAD had a novel PSEN1 mutation.


Case report
A 54-year-old right-handed woman presented 12-year history of progressive memory decline. She was clinically diagnosed as familial Alzheimer's disease due to a PSEN1 mutation.
One of two daughters also has the same mutation, G209A in the TM-IV of PS1 protein. Her mother had unspecified dementia that began at the age of 40s. PolyPhen2 and SIFT prediction suggested that G209A might be a damaging variant with high scores. 3D modeling revealed that G209A exchange could result significant changes in the PS1 protein.



Conclusion
We report a case of EOAD having probable novel PSEN1 (G209A) mutation verified with structural prediction.
Language
English
URI
http://hdl.handle.net/10371/100553
DOI
https://doi.org/10.1186/s12883-016-0591-6
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College of Medicine/School of Medicine (의과대학/대학원)Dept. of Neurology (신경과학교실)Journal Papers (저널논문_신경과학교실)
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