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330029 RESULTS

APP Y538H

MUTATIONS APP 27326977 GRCh37/hg19 rs45537238 T C Exon 13 Point, Missense Coding Decreased Aβ42 and Aβ40 in cells, without altering Aβ42/Aβ40 ratio. Neuropathology consistent with AD, but not thought to be attributed to this variant. Y538H Alzheimer's Disease:

PSEN1 L166V

MUTATIONS PSEN1 73653576 GRCh37/hg19 C G Exon 6 Point, Missense Coding Unknown; predicted damaging in silico by multiple algorithms. SPECT imaging performed four years after symptom onset showed temporoparietal hypoperfusion. Postmortem evaluation revealed neuropat

PSEN1 S230R

MUTATIONS PSEN1 73659493 GRCh37/hg19 T G Exon 7 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. SPECT imaging showed bilateral parietal hypoperfusion, more marked on the left side. Postmortem evaluation revealed neurop

Drug and Biomarker Candidates for C9ORF72 ALS and FTD

RESEARCH NEWS 2014-08-15 Research News In the August 14 Neuron, researchers offer up a possible treatment and a potential biomarker for amyotrophic lateral sclerosis and frontotemporal dementia caused by mutations in the C9ORF72 gene. Leonard Petrucelli at the Mayo Clinic in Jack

APP P620L

MUTATIONS APP 27284103 GRCh37/hg19 C T Exon 14 Point, Missense Coding Increased Aβ40 and Aβ42 secretion in cells, without significantly altering the Aβ42/Aβ40 ratio in cells. One reported carrier of the variant had autopsy-confirmed AD.  P620L Alzheimer's Dise

PSEN2 A237V

MUTATIONS PSEN2 227076673 GRCh37/hg19 rs200670135 C T Exon 8 Point, Missense Coding Unknown; predicted possibly damaging in silico. Neuropathology consistent with AD. A237V Alzheimer's Disease: Uncertain SignificanceAlzheimer's Disease This variant was fo

PSEN1 I168T

MUTATIONS PSEN1 73653583 GRCh37/hg19 T C Exon 6 Point, Missense Coding No significant effect on Aβ40 or Aβ42 secretion in cells; decreased Aβ42 and abrogated Aβ40 production in vitro. Neuropathology consistent with AD. I168T Alzheimer's Disease: Not Classified

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