title: Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  We report a case of EOAD having probable novel PSEN1 (G209A) mutation verified with structural prediction.
authors.affiliation: College of Bionano Technology, Gachon Bionano Research Institute, Gachon University, Seongnam-si, South Korea.
authors.forename: Seong Soo A
authors.initials: SS
authors.lastname: An
authors.affiliation: College of Bionano Technology, Gachon Bionano Research Institute, Gachon University, Seongnam-si, South Korea.
authors.forename: Eva
authors.initials: E
authors.lastname: Bagyinszky
authors.affiliation: Department of Laboratory Medicine, Chung-Ang University College of Medicine, Seoul, South Korea.
authors.forename: Hye Ryoun
authors.initials: HR
authors.lastname: Kim
authors.affiliation: Department of Nuclear Medicine, Chung-Ang University College of Medicine, Seoul, South Korea.
authors.forename: Ju-Won
authors.initials: JW
authors.lastname: Seok
authors.affiliation: Department of Neurology, Chung-Ang University College of Medicine, Chung-Ang University Hospital, 224-1 Heukseok-dong, Dongjak-Gu, Seoul, 06973, South Korea.
authors.forename: Hae-Won
authors.initials: HW
authors.lastname: Shin
authors.affiliation: College of Bionano Technology, Gachon Bionano Research Institute, Gachon University, Seongnam-si, South Korea.
authors.forename: SeunOh
authors.initials: S
authors.lastname: Bae
authors.affiliation: Department of Neuology, Seoul National University Bundang Hospital and Seoul National University College of Medicine, 300 Gumidong, Bundang-gu, Seongnam-si, , Gyeonggi-do, 463-707, South Korea. neuroksy@snu.ac.kr.
authors.forename: SangYun
authors.initials: S
authors.lastname: Kim
authors.affiliation: Department of Neurology, Chung-Ang University College of Medicine, Chung-Ang University Hospital, 224-1 Heukseok-dong, Dongjak-Gu, Seoul, 06973, South Korea. neudoc@cau.ac.kr.
authors.forename: Young Chul
authors.initials: YC
authors.lastname: Youn
mesh_terms: D017668:Age of Onset; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D008957:Models, Genetic; D009154:Mutation; D053764:Presenilin-1 / Q000737:chemistry* / Q000235:genetics*
chemical_list: D053764:Presenilin-1
keywords: Alzheimer's disease; Novel mutation; Presenilin 1 mutation; Presenilin 1 protein structure; Structural prediction