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329960 RESULTS

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

MAPT G200E

MUTATIONS MAPT 44060769 GRCh37/hg19 rs757159453 G A Exon 4a Point, Missense Coding Unknown; predicted possibly damaging in silico. Not applicable. G200E Frontotemporal Dementia: BenignNone This variant in MAPT was found in an exome sequencing study of 141 Caucasian

Neural Circuitry Goes Haywire in Both Sporadic and Familial AD

RESEARCH NEWS 2014-08-15 Research News Neural circuits falter in the earliest stages of Alzheimer’s Disease, regardless of when or why it strikes, according to a paper in the July 28 JAMA Neurology. A large cadre of researchers led by Beau Ances at Washington University in St. Lo

APP K496Q

MUTATIONS APP 27328042 GRCh37/hg19 rs201384815 A C Exon 12 Point, Missense Coding In cells, slight increase in Aβ40, but Aβ42/Aβ40 ratio not significantly different from controls. One reported carrier of this variant had autopsy-confirmed AD. K496Q Alzheimer's

MAPT G213R

MUTATIONS MAPT 44060807 GRCh37/hg19 rs76375268 G A Exon 4a Point, Missense Coding Unknown; predicted possibly damaging in silico. Unknown. G213R Frontotemporal Dementia: Benign, Alzheimer's Disease: Unclear PathogenicityAlzheimer's Disease This variant wa

APP A201V

MUTATIONS APP 27423376 GRCh37/hg19 rs149995579 C T Exon 5 Point, Missense Coding In cells, no effect on Aβ42, Aβ40, and Aβ42/Aβ40. Not applicable. A201V Alzheimer's Disease: Benign, Parkinson's Disease Dementia: Not ClassifiedNone, Parkinson's Diseas

MAPT V224G

MUTATIONS MAPT 44060841 GRCh37/hg19 rs141120474 T G Exon 4a Point, Missense Coding Unknown; predicted possibly damaging in silico. Unknown. V224G Frontotemporal Dementia: Benign, Alzheimer's Disease: Unclear PathogenicityAlzheimer's Disease, None This var

APP E599K

MUTATIONS APP 27284167 GRCh37/hg19 rs140304729 G A Exon 14 Point, Missense Coding In cells, reduced Aβ40 secretion, but did not significantly alter Aβ42 secretion nor the Aβ42/Aβ40 ratio. Not applicable. E599K Alzheimer's Disease: Benign, Parkinson's Dise

Therapies Take Aim at Tau

CONFERENCE COVERAGE 2014-08-15 Conference Coverage Researchers continue to target tau in hopes of treating patients with Alzheimer’s or other tauopathies. At the Alzheimer’s Association International Conference 2014 held July 12-17 in Copenhagen, Denmark, scientists presented their lat

Maria Joseph


Max-Planck institute for neurological disease
Bonn, Germany

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