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329940 RESULTS

PSEN1 G266S

MUTATIONS PSEN1 73664765 GRCh37/hg19 rs121917807 G A g.49981G> A g.66587G> A Exon 8 Point, Missense Coding Marked increase in Aβ42/Aβ40 ratio; reduced production of Aβ42, and particularly Aβ40, in vitro.  In one case, cotton-wool plaques; cerebral amyloid ang

PSEN1 P264L

MUTATIONS PSEN1 73664760 GRCh37/hg19 rs63750301 C T g.49976C> T g.66582C> T Exon 8 Point, Missense Coding Increased Aβ42/Aβ40 and decreased Aβ38/Aβ42 ratios; increased Aβ42, and decreased Aβ40 and Aβ38 production; Deposition of PSEN-1 in the endoplasmic retic

PSEN1 C263F

MUTATIONS PSEN1 73664757 GRCh37/hg19 rs63751102 G T g.49973G> T g.66579G> T Exon 8 Point, Missense Coding Increased Aβ43 and the Aβ42/Aβ40 ratio; decreased Aβ38, Aβ40, and Aβ42. Unknown. AD-like CSF levels of Aβ40, Aβ42, Aβ43, tau, and phospho-tau in 3 of 4 c

MAPT D285N

MUTATIONS MAPT 44061023 GRCh37/hg19 rs62063786 G A g.97063G> A g.94237G> A Exon 4a Point, Missense Coding Unknown. Unknown. D285N Frontotemporal Dementia: Benign, Other Tauopathy: Incomplete PenetranceProgressive Supranuclear Palsy, None This variant was firs

PSEN1 C263R

MUTATIONS PSEN1 73664756 GRCh37/hg19 rs63750543 T C g.49972T> C g.66578T> C Exon 8 Point, Missense Coding Decreased Aβ40 and Aβ42 production and increased Aβ42/Aβ40 ratio in vitro. Neuropathology consistent with AD. C263R Alzheimer's Disease: PathogenicA

PSEN1 L262F

MUTATIONS PSEN1 73664755 GRCh37/hg19 rs63750248 G C g.49971G> C g.66577G> C Exon 8 Point, Missense Coding Increased Aβ42/Aβ40 ratio in vitro, exhibiting a moderate increase in Aβ42 production, and a decrease in Aβ40 production. A brain biopsy from one case &q

PSEN1 V261F

MUTATIONS PSEN1 73664750 GRCh37/hg19 rs63750964 G T g.49966G> T g.66572G> T Exon 8 Point, Missense Coding Increased Aβ43 production (prevailing Aβ species) in cells. Decreased Aβ42 and Aβ40 production, and increased Aβ42/Aβ40 ratio in vitro. Also, abolished a

PSEN1 V261L

MUTATIONS PSEN1 73664750 GRCh37/hg19 G C g.49966G> C g.66572G> C Exon 8 Point, Missense Coding Unknown, but multiple in silico algorithms predicted it is deleterious Unknown, but MRI showed cortical and subcortical atrophy, and SPECT revealed temporal hyperpe

PSEN1 A260V

MUTATIONS PSEN1 73664748 GRCh37/hg19 rs63751420 C T g.49964C> T g.66570C> T Exon 8 Point, Missense Coding Increased the Aβ42/Aβ40 ratio and decreased the Aβ (37 + 38 + 40) / (42 + 43) ratio. Reduced production of Aβ40 and Aβ42, disrupted APP intracellular dis

PSEN1 Y256S

MUTATIONS PSEN1 73659570 GRCh37/hg19 rs63751320 A C g.44786A> C g.61392A> C Exon 7 Point, Missense Coding Increased Aβ40 and Aβ42 in frontal cortex of one case. In cells, increased Aβ42 and Aβ43. In vitro, decreased production of Aβ42 and Aβ40, increased Aβ42

PSEN1 L250S

MUTATIONS PSEN1 73659552 GRCh37/hg19 rs63751163 T C g.44768T> C g.61374T> C Exon 7 Point, Missense Coding In vitro, decreases Aβ40 and Aβ42 production; increases Aβ42/Aβ40 ratio. Neuropathology consistent with AD in two cases. L250S Alzheimer's Disease:

PSEN1 L250V

MUTATIONS PSEN1 73659551 GRCh37/hg19 rs63750634 T G g.44767T> G g.61373T> G Exon 7 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. Unknown, but MRI showed diffuse cerebral atrophy and SPECT showed severe cortical

PSEN1 L248R

MUTATIONS PSEN1 73659546 GRCh37/hg19 T G g.44762T> G g.61368T> G Exon 7 Point, Missense Coding Increased Aβ42/Aβ40 ratio, decreased Aβ37/Aβ42 ratio. Production of all Aβ peptides was decreased. Unknown; in one case, neuroimaging showed prominent atrophy in th

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