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Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction
Cited 3 time in
Web of Science
Cited 3 time in Scopus
- Authors
- Issue Date
- 2016-05-20
- Publisher
- BioMed Central
- Citation
- BMC Neurology, 16(1):71
- Keywords
- Alzheimer's disease ; Presenilin 1 mutation ; Presenilin 1 protein structure ; Novel mutation ; Structural 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
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