MUTATIONS PSEN1 73664820 GRCh37/hg19 rs63750863 C T Exon 8 Point, Missense Coding Unknown, but several in silico algorithms predict it is damaging. Prominent cotton-wool plaques in the cerebral cortex, basal ganglia, brainstem, and spinal cord. Some dense core plaq
MUTATIONS PSEN1 73664819 GRCh37/hg19 rs63750324 C T g.50035C> T g.66641C> T Exon 8 Point, Missense Coding Aβ40 and Aβ42 production was similar to wild-type PSEN1 in vitro. Unknown, but in 4 family members, MRI revealed widespread white-matter lesions, with lo
MUTATIONS PSEN1 73664814 GRCh37/hg19 rs63750050 T G g.50030T> G g.66636T> G Exon 8 Point, Missense Coding Decreased Aβ (37 + 38 + 40) / (42 + 43) and Aβ37/Aβ42 ratios and increased Aβ43. The Aβ42/Aβ40 ratio was increased or unchanged. Neuropathology consisten
MUTATIONS PSEN1 73664813 GRCh37/hg19 C T g.50029C> T g.66635C> T Exon 8 Point, Missense Coding Although Aβ42/Aβ40 was similar to controls, Aβ37/Aβ42 was decreased and Aβ43 levels were increased in a cell-based assay. Unknown; MRI showed mild medial temporal a
MUTATIONS PSEN1 73664813 GRCh37/hg19 rs63749937 C G g.50029C> G g.66635C> G Exon 8 Point, Missense Coding Increased Aβ42/Aβ40 ratio and decreased Aβ37/Aβ42 ratio in cells. In vitro, Aβ42 and Aβ40 production, as well as Aβ42/Aβ40 ratio, similar to wild-type. I
MUTATIONS PSEN1 73664808 GRCh37/hg19 rs63750231 A G g.50024A> G g.66630A> G Exon 8 Point, Missense Coding Increased Aβ42/Aβ40 ratio in cells and in vitro. Aβ42 secretion was increased in cells, but production of both Aβ42 and Aβ40 was reduced in vitro, as was
MUTATIONS PSEN1 73664808 GRCh37/hg19 rs63750231 A C g.50024A> C g.66630A> C Exon 8 Point, Missense Coding In cells, increased the Aβ42/Aβ40 ratio and decreased the Aβ (37 + 38 + 40) / (42 + 43) and Aβ37/Aβ42 ratios. Activation of chaperone-mediated autophagy.
MUTATIONS PSEN1 73664803 GRCh37/hg19 rs63750524 A C g.50019A> C g.66625A> C Exon 8 Point, Missense Coding Unknown, but multiple in silico algorithms predicted it is damaging. Unknown R278S Alzheimer's Disease: Not ClassifiedAlzheimer's Disease, Spas
MUTATIONS MAPT 44095990 GRCh37/hg19 rs63750905 G T g.132034G> T g.129214G> T Exon 12 Point, Missense Coding Reduced ability of tau to promote microtubule assembly; Increased heparin-induced assembly of recombinant tau into filaments. Unknown. G335V It is high
MUTATIONS PSEN1 73664802 GRCh37/hg19 rs63749891 G T g.50018G> T g.66624G> T Exon 8 Point, Missense Coding Deficient maturation of mutant protein in iPSC-derived neurons. Selective increase in secreted Aβ43; impaired endoproteolysis of PSEN1. Increased Aβ42/Aβ
PAPER Tsai PS, Friedman B, Ifarraguerri AI, Thompson BD, Lev-Ram V, Schaffer CB, Xiong Q, Tsien RY, Squier JA, Kleinfeld D
Neuron. 2003 Jul 3;39(1):27-41. PubMed: 12848930
PAPER Kempermann G
Nat Rev Neurosci. 2012 Oct;13(10):727-36. PubMed: 22948073
PAPER Bergmann O, Liebl J, Bernard S, Alkass K, Yeung MS, Steier P, Kutschera W, Johnson L, Landén M, Druid H, Spalding KL, Frisén J
Neuron. 2012 May 24;74(4):634-9. PubMed: 22632721
PAPER Knoth R, Singec I, Ditter M, Pantazis G, Capetian P, Meyer RP, Horvat V, Volk B, Kempermann G
PLoS One. 2010;5(1):e8809. PubMed: 20126454
MUTATIONS MAPT 44095989 GRCh37/hg19 rs63750095 G A g.132033G> A g.129213G> A Exon 12 Point, Missense Coding Reduced ability of tau to promote microtubule assemby. Degeneration of the frontal and temporal lobes, hippocampus, and substantia nigra. Extensive dep