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329930 RESULTS

PSEN1 R278T

MUTATIONS PSEN1 73664802 GRCh37/hg19 rs63749891 G C g.50018G> C g.66624G> C Exon 8 Point, Missense Coding Increased Aβ42/Aβ40 ratio and decreased Aβ (37 + 38 + 40) / (42 + 43) and Aβ37/Aβ42 ratios in cells. Also, increased Aβ43 levels 10-fold. Neuropathology

PSEN1 R278K

MUTATIONS PSEN1 73664802 GRCh37/hg19 rs63749891 G A g.50018G> A g.66624G> A Exon 8 Point, Missense Coding Increased Aβ42 production in patient fibroblasts; but reduced Aβ42 and Aβ40 production in assay with purified proteins. In both cases, increased Aβ42/Aβ4

PSEN1 T274R

MUTATIONS PSEN1 73664790 GRCh37/hg19 rs63750284 C G g.50006C> G g.66612C> G Exon 8 Point, Missense Coding In vitro, Aβ40 and Aβ42 production was undetectable. Unknown T274R Alzheimer's Disease: Not ClassifiedAlzheimer's Disease This mutation was fou

PSEN1 E273A

MUTATIONS PSEN1 73664787 GRCh37/hg19 rs63750772 A C g.50003A> C g.66609A> C Exon 8 Point, Missense Coding Increased Aβ43 and decreased Aβ38 in cells; increased Aβ42 and Aβ42/Aβ40 ratio in vitro; disrupted calcium flow in ER. Unknown E273A Alzheimer's Dis

PSEN1 V272A

MUTATIONS PSEN1 73664784 GRCh37/hg19 rs63750680 T C g.50000T> C g.66606T> C Exon 8 Point, Missense Coding Increased plasma Aβ42. In vitro, increased Aβ42 production and Aβ42/Aβ40. Neuropathology consistent with AD, but also Lewy bodies in cortex and substanti

PSEN1 L271V

MUTATIONS PSEN1 73664780 GRCh37/hg19 rs63750886 C G g.49996C> G g.66602C> G Exon 8 Point, Missense Coding   Affects splicing of exon 8 such that more transcripts are produced which lack exon 8. Causes amino acid replacement (D257A) at the splice junction of e

G8 to Set Sights on Dementia

RESEARCH NEWS 2013-05-31 Research News This June, leaders from the globe’s eight richest countries, the G8, will assemble in Northern Ireland to discuss major issues related to the world’s economy—among them, the rising threat of dementia in aging populations. U.K. Prime Minister

Does Shrinking Temporal Lobe Make AD Patients Overly Sensitive?

RESEARCH NEWS 2013-05-31 Research News Though typically seen as a cognitive disorder, Alzheimer’s disease can throw emotions off kilter, making people unusually sensitive to others’ feelings and moods. New research suggests biological underpinnings for such changes. A report in t

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