Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction. Issue 1 (December 2016)

• Record Type: Journal Article
• Authors: An, Seong; Bagyinszky, Eva; Kim, Hye; Seok, Ju-Won; Shin, Hae-Won; Bae, SeunOh; Kim, SangYun; Youn, Young
• Is Part Of: BMC neurology. Volume 16:Issue 1(2016)
• Page Start: 1
• Page End: 6
• Publication Date: 2016-12
• Subjects: Alzheimer's disease -- Presenilin 1 mutation -- Presenilin 1 protein structure -- Novel mutation -- Structural prediction; Neurology -- Periodicals; 616.8005
• DOI: 10.1186/s12883-016-0591-6
• Languages: English
• ISSNs: 1471-2377

Abstract

Abstract Background Three main genes are described as causative genes for early-onset Alzheimer dementia (EOAD):APP, PSEN1 andPSEN2 . We describe a woman with EOAD had a novelPSEN1 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 aPSEN1 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 novelPSEN1 (G209A) mutation verified with structural prediction.