PSEN2 T301M

MUTATIONS PSEN2 227078994 GRCh37/hg19 rs144277432 C T Exon 10 Point, Missense Coding Unchanged Aβ42/Aβ40 ratio. Unknown. T301M Alzheimer's Disease: BenignAlzheimer's Disease This PSEN2 variant was reported in an individual from the Netherlands who died wi

Maria Ribeiro

FFUL
Lisboa, Portugal

Xiaoling Gao

Shanghai Jiaotong University School of Medicine
Shanghai, China

Catherine Burton

Bristol-Myers Squibb
Durham, United States

Keiro Shirotani

Nagasaki Uni.

Human Neurons Resist Effects of First-Generation γ-Secretase Modulators

RESEARCH NEWS 2013-12-13 Research News Many Alzheimer’s drugs that looked promising in animal and cell culture studies have failed in clinical trials. A paper in the December 17 Stem Cell Reports proposes a new explanation for one such class of drugs, namely γ-secretase modulator

David Larsen

Advanced Memory Dynamics
Layton, United States

PAPER Bannwarth B, Netter P, Lapicque F, Péré P, Thomas P, Gaucher A

Plasma and cerebrospinal fluid concentrations of indomethacin in humans. Relationship to analgesic activity.

Eur J Clin Pharmacol. 1990;38(4):343-6. PubMed: 2344858

PAPER Boylan KB, Glass JD, Crook JE, Yang C, Thomas CS, Desaro P, Johnston A, Overstreet K, Kelly C, Polak M, Shaw G

Phosphorylated neurofilament heavy subunit (pNF-H) in peripheral blood and CSF as a potential prognostic biomarker in amyotrophic lateral sclerosis.

J Neurol Neurosurg Psychiatry. 2013 Apr;84(4):467-72. Epub 2012 Oct 31 PubMed: 23117489

PAPER Otto M, Bowser R, Turner M, Berry J, Brettschneider J, Connor J, Costa J, Cudkowicz M, Glass J, Jahn O, Lehnert S, Malaspina A, Parnetti L, Petzold A, Shaw P, Sherman A, Steinacker P, Süssmuth S, Teunissen C, Tumani H, Wuolikainen A, Ludolph A, Volcano Group

Roadmap and standard operating procedures for biobanking and discovery of neurochemical markers in ALS.

Amyotroph Lateral Scler. 2012 Jan;13(1):1-10. PubMed: 22214350

Biomarker Panel Predicts Slow or Fast ALS Course

RESEARCH NEWS 2013-12-13 Research News A diagnosis of amyotrophic lateral sclerosis typically means a person will survive for only two or three years—but some people live a decade or more. Patients, and their physicians, could benefit from a method that would help them predict ho

Sandra Black

Sunnybrook Health Sciences Centre, University of Toronto
Toronto, Canada

Phospholipase D3 Variants Double Sporadic AD Risk

RESEARCH NEWS 2013-12-13 Research News In another victory for whole-genome technology, geneticists have identified rare variants of phospholipase D3 (PLD3) that double a person’s risk for late-onset Alzheimer’s disease (LOAD). Lead author Carlos Cruchaga of Washington University

PAPER Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, Hsu S, Choi J, Ryten M, UK Brain Expression Consortium, Hardy J, Ryten M, Trabzuni D, Weale ME, Ramasamy A, Smith C, Sassi C, Bras J, Gibbs JR, Hernandez DG, Lupton MK, Powell J, Forabosco P, Ridge PG, Corcoran CD, Tschanz JT, Norton MC, Munger RG, Schmutz C, Leary M, Demirci FY, Bamne MN, Wang X, Lopez OL, Ganguli M, Medway C, Turton J, Lord J, Braae A, Barber I, Brown K, Alzheimer’s Research UK Consortium, Passmore P, Craig D, Johnston J, McGuinness B, Todd S, Heun R, Kölsch H, Kehoe PG, Hooper NM, Vardy ER, Mann DM, Pickering-Brown S, Brown K, Kalsheker N, Lowe J, Morgan K, David Smith A, Wilcock G, Warden D, Holmes C, Pastor P, Lorenzo-Betancor O, Brkanac Z, Scott E, Topol E, Morgan K, Rogaeva E, Singleton AB, Hardy J, Kamboh MI, St George-Hyslop P, Cairns N, Morris JC, Kauwe JS, Goate AM

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.

Nature. 2014 Jan 23;505(7484):550-4. Epub 2013 Dec 11 PubMed: 24336208

Blocking BACE—Do Adult Mouse Phenotypes Predict Side Effects?

CONFERENCE COVERAGE 2013-12-13 Conference Coverage Despite Eli Lilly terminating development of its BACE inhibitor LY2886721 (see Jun 2013 news story), the protease remains a popular target among pharmaceutical companies looking for the next Alzheimer's disease therapy. While BACE