PSEN1 A285V

MUTATIONS PSEN1 73664823 GRCh37/hg19 rs63751139 C T g.50039C> T g.66645C> T Exon 8 Point, Missense Coding Aβ40 and Aβ42 levels similar to controls in CSF of one patient. In cells, Aβ42 production elevated compared to Aβ40 and Aβ38 production. In vitro, both A

PSEN1 P284L

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

PSEN1 P284S

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

PSEN1 L282R

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

PSEN1 L282F

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

PSEN1 L282V

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

PSEN1 E280G

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

PSEN1 E280A (Paisa)

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.

PSEN1 R278S

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

MAPT G335V

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

PSEN1 R278I

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

All-optical histology using ultrashort laser pulses.

Neuron. 2003 Jul 3;39(1):27-41. PubMed: 12848930

PAPER Kempermann G

New neurons for 'survival of the fittest'.

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

The age of olfactory bulb neurons in humans.

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

Murine features of neurogenesis in the human hippocampus across the lifespan from 0 to 100 years.

PLoS One. 2010;5(1):e8809. PubMed: 20126454