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

DC Field Value Language
dc.contributor.authorAn, Seong Soo A.-
dc.contributor.authorBagyinszky, Eva-
dc.contributor.authorKim, Hye Ryoun-
dc.contributor.authorSeok, Ju-Won-
dc.contributor.authorShin, Hae-Won-
dc.contributor.authorBae, SeunOh-
dc.contributor.authorKim, SangYun-
dc.contributor.authorYoun, Young Chul-
dc.date.accessioned2017-02-08T05:52:37Z-
dc.date.available2017-02-08T05:52:37Z-
dc.date.issued2016-05-20-
dc.identifier.citationBMC Neurology, 16(1):71ko_KR
dc.identifier.urihttps://hdl.handle.net/10371/100553-
dc.descriptionThis 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.
ko_KR
dc.description.abstractAbstract

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.
ko_KR
dc.language.isoenko_KR
dc.publisherBioMed Centralko_KR
dc.subjectAlzheimer's diseaseko_KR
dc.subjectPresenilin 1 mutationko_KR
dc.subjectPresenilin 1 protein structureko_KR
dc.subjectNovel mutationko_KR
dc.subjectStructural predictionko_KR
dc.titleNovel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural predictionko_KR
dc.typeArticleko_KR
dc.contributor.AlternativeAuthor안성수-
dc.contributor.AlternativeAuthor김혜련-
dc.contributor.AlternativeAuthor석주원-
dc.contributor.AlternativeAuthor신해원-
dc.contributor.AlternativeAuthor배순오-
dc.contributor.AlternativeAuthor김상윤-
dc.contributor.AlternativeAuthor윤영철-
dc.identifier.doi10.1186/s12883-016-0591-6-
dc.language.rfc3066en-
dc.rights.holderAn et al.-
dc.date.updated2017-01-06T10:16:29Z-
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