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...

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Autores principales: An, Seong Soo A., Bagyinszky, Eva, Kim, Hye Ryoun, Seok, Ju-Won, Shin, Hae-Won, Bae, SeunOh, Kim, SangYun, Youn, Young Chul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
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.
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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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