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Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction
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 clin...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4875656/ https://www.ncbi.nlm.nih.gov/pubmed/27206484 http://dx.doi.org/10.1186/s12883-016-0591-6 |
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author | An, Seong Soo A. Bagyinszky, Eva Kim, Hye Ryoun Seok, Ju-Won Shin, Hae-Won Bae, SeunOh Kim, SangYun Youn, Young Chul |
author_facet | An, Seong Soo A. Bagyinszky, Eva Kim, Hye Ryoun Seok, Ju-Won Shin, Hae-Won Bae, SeunOh Kim, SangYun Youn, Young Chul |
author_sort | An, Seong Soo A. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-4875656 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-48756562016-05-22 Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction An, Seong Soo A. Bagyinszky, Eva Kim, Hye Ryoun Seok, Ju-Won Shin, Hae-Won Bae, SeunOh Kim, SangYun Youn, Young Chul BMC Neurol Case Report 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. BioMed Central 2016-05-20 /pmc/articles/PMC4875656/ /pubmed/27206484 http://dx.doi.org/10.1186/s12883-016-0591-6 Text en © An et al. 2016 Open AccessThis 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. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report An, Seong Soo A. Bagyinszky, Eva Kim, Hye Ryoun Seok, Ju-Won Shin, Hae-Won Bae, SeunOh Kim, SangYun Youn, Young Chul Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction |
title | Novel
PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction
|
title_full | Novel
PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction
|
title_fullStr | Novel
PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction
|
title_full_unstemmed | Novel
PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction
|
title_short | Novel
PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction
|
title_sort | novel
psen1 g209a mutation in early-onset alzheimer dementia supported by structural prediction |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4875656/ https://www.ncbi.nlm.nih.gov/pubmed/27206484 http://dx.doi.org/10.1186/s12883-016-0591-6 |
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