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
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
PAPER Su Z, Zhang Y, Gendron TF, Bauer PO, Chew J, Yang WY, Fostvedt E, Jansen-West K, Belzil VV, Desaro P, Johnston A, Overstreet K, Oh SY, Todd PK, Berry JD, Cudkowicz ME, Boeve BF, Dickson D, Floeter MK, Traynor BJ, Morelli C, Ratti A, Silani V, Rademakers R, Brown RH, Rothstein JD, Boylan KB, Petrucelli L, Disney MD
Neuron. 2014 Sep 3;83(5):1043-50. Epub 2014 Aug 14 PubMed: 25132468
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
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
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
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
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
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
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
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
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
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
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
Max-Planck institute for neurological diseaseBonn, Germany