PSEN2 D439A

MUTATIONS PSEN2 227083249 GRCh37/hg19 rs63750110 A C g.13642A> C g.29977A> C Exon 13 Point, Missense Coding MIxed results in vitro. Unknown; imaging showed moderate cortical atrophy in the frontal and parietal regions. D439A Alzheimer's Disease: Likely

PSEN2 T430M

MUTATIONS PSEN2 227083222 GRCh37/hg19 rs63750666 C T g.13615C> T g.29950C> T Exon 13 Point, Missense Coding Unknown, but in silico analysis predicted a damaging effect (PHRED-scaled CADD score = 31). Right frontotemporal hypoperfusion. T430M Alzheimer's

PSEN2 V393M

MUTATIONS PSEN2 227081812 GRCh37/hg19 rs142690225 G A g.12205G> A g.28540G> A Exon 12 Point, Missense Coding Unchanged Aβ42/Aβ40 ratio in cells. In one assay, reduced secretion of Aβ4 and Aβ42, in another, Aβ42 secretion was unchanged. Unknown; bilateral hypo

PSEN2 P334R

MUTATIONS PSEN2 227079474 GRCh37/hg19 rs63750207 C G g.9867C> G g.26202C> G Exon 11 Point, Missense Coding Unknown, but predicted not damaging in silico (PHRED-scaled CADD score = 16.3). Not applicable. P334R Alzheimer's Disease: BenignAlzheimer's D

PSEN2 A252T

MUTATIONS PSEN2 227076717 GRCh37/hg19 rs138836272 G A g.7110G> A g.23445G> A Exon 8 Point, Missense Coding Decreased Aβ42 and Aβ40 in cells, without altering Aβ42/Aβ40 ratio. Not applicable. A252T Alzheimer's Disease: BenignNone This variant was found in

PSEN2 M239I

MUTATIONS PSEN2 227076680 GRCh37/hg19 rs63749884 G A g.7073G> A g.23408G> A Exon 8 Point, Missense Coding Increased Aβ42/Aβ40 ratio; increased Aβ42; No change in proteolytic products PSEN2-CTF and PSEN2-NTF; Reduced calcium release. Moderate cortical atrophy;

PAPER Finckh U, Alberici A, Antoniazzi M, Benussi L, Fedi V, Giannini C, Gal A, Nitsch RM, Binetti G

Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I.

Neurology. 2000 May 23;54(10):2006-8. PubMed: 10822446

Chengxuan Qiu on Prevalence of Dementia, AD, in China Eclipses Predictions

COMMENT The Lancet article by Chan and colleagues is the most comprehensive epidemiological assessment thus far of dementia and its major subtypes (Alzheimer’s disease and vascular dementia) in mainland China. It provides estimates on major measures of epidemiolo