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331202 RESULTS

PSEN1 L424H

MUTATIONS PSEN1 73685864 GRCh37/hg19 rs63751032 T A g.71075T> A g.87686T> A Exon 12 Point, Missense Coding Increased Aβ42/Aβ40 and Aβ43; decreased Aβ37/Aβ42. Unknown; generalized cerebral atrophy by MRI; diffuse cerebral hypoperfusion by SPECT. L424H Alzheime

PSEN1 L424F

MUTATIONS PSEN1 73685863 GRCh37/hg19 C T g.71074C> T g.87685C> T Exon 12 Point, Missense Coding Increased Aβ42/Aβ40 and decreased Aβ37/Aβ42 in cultured cells.     Unknown, but neuroimaging in two patients revealed brain atrophy with white-matter changes. L424

PSEN1 L424V

MUTATIONS PSEN1 73685863 GRCh37/hg19 C G g.71074C> G g.87685C> G Exon 12 Point, Missense Coding Increased Aβ40, Aβ42, and Aβ42/Aβ40 in vitro. Unknown; CT and SPECT imaging showed diffuse cortical and subcortical atrophy and hypoperfusion affecting the frontal

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