S-Space College of Medicine/School of Medicine (의과대학/대학원) Dept. of Neurology (신경과학교실) Journal Papers (저널논문_신경과학교실)
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
- Issue Date
- BioMed Central
- BMC Neurology, 16(1):71
- Alzheimer's disease; Presenilin 1 mutation; Presenilin 1 protein structure; Novel mutation; Structural prediction
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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.
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.
We report a case of EOAD having probable novel PSEN1 (G209A) mutation verified with structural prediction.