O'Bryant, Sid E., Xiao, Guanghua, Barber, Robert, Reisch, Joan, Doody, Rachelle, Fairchild, Thomas, Adams, Perrie, Waring, Steven, Diaz-Arrastia, Ramon

Objective: To develop an algorithm that separates patients with Alzheimer disease (AD) from controls. Design: Longitudinal case-control study. Setting: The Texas Alzheimer’s Research Consortium project. Patients: We analyzed serum protein-based multiplex biomarker data from 197 patients diagnosed with AD and 203 controls. Main Outcome Measure: The total sample was randomized equally into training and test […]

Fehlbaum-Beurdeley, Pascale, Sol, Olivier, Désiré, Laurent, Touchon, Jacques, Dantoine, Thierry, Vercelletto, Martine, Gabelle, Audrey, Jarrige, Anne-Charlotte, Haddad, Raphaël, Lemarié, Jean Christophe, Zhou, Weiyin, Hampel, Harald, Einstein, Richard, Vellas, Bruno

Biomarkers have gained an increased importance in the past years in helping physicians to diagnose Alzheimer’s disease (AD). This study was designed to identify a blood-based, transcriptomic signature that can differentiate AD patients from control subjects. The performance of the signature was then evaluated for robustness in an independent blinded sample population. RNA was extracted […]

Green, Robert C., Roberts, J. Scott, Cupples, L. Adrienne, Relkin, Norman R., Whitehouse, Peter J., Brown, Tamsen, Eckert, Susan LaRusse, Butson, Melissa, Sadovnick, A. Dessa, Quaid, Kimberly A., Chen, Clara, Cook-Deegan, Robert, Farrer, Lindsay A.

Background: The apolipoprotein E (APOE) genotype provides information on the risk of Alzheimer’s disease, but the genotyping of patients and their family members has been discouraged. We examined the effect of genotype disclosure in a prospective, randomized, controlled trial.; Methods: We randomly assigned 162 asymptomatic adults who had a parent with Alzheimer’s disease to receive […]

Angelucci, Francesco, Bernardini, Sergio, Gravina, Paolo, Bellincampi, Lorenza, Trequattrini, Alberto, Di Iulio, Fulvia, Vanni, Diego, Federici, Giorgio, Caltagirone, Carlo, Bossù, Paola, Spalletta, Gianfranco

Although the etiology of psychotic symptoms (hallucinations and delusions) in Alzheimer’s disease is still not known, alterations in serotonergic neurotransmission have been proposed. In a 3-year follow-up study, we evaluated the association of serotonin (5-HT) receptor 5-HT2a 102T/C polymorphism (allelic variants CC, CT and TT) with psychotic symptom severity and response to treatment with atypical […]

Trompet, Stella, Jukema, Wouter, Mooijaart, Simon P., Ford, Ian, Stott, David J., Westendorp, Rudi G.J., de Craen, Anton J.M.

Inflammation plays an important role in the development of cognitive decline and dementia in old age. Galectin-3 is known for its role in acute and chronic inflammation. We assessed whether genetic variation in the LGALS3 gene, encoding for galectin-3, associates with cognitive function in the 5804 participants of the PROspective Study of Pravastatin in the […]

Tikka, S., Mykkanen, K., Ruchoux, M.-M., Bergholm, R., Junna, M., Poyhonen, M., Yki-Jarvinen, H., Joutel, A., Viitanen, M., Baumann, M., Kalimo, H.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary subcortical vascular dementia. It is caused by mutations in NOTCH3 gene, which encodes a large transmembrane receptor Notch3. The key pathological finding is the accumulation of granular osmiophilic material (GOM), which contains extracellular domains of Notch3, on degenerating vascular smooth […]

Snowden, Julie S., Hu, Quan, Rollinson, Sara, Halliwell, Nicola, Robinson, Andrew, Davidson, Yvonne S., Momeni, Parastoo, Baborie, Atik, Griffiths, Timothy D., Jaros, Evelyn, Perry, Robert H., Richardson, Anna, Pickering-Brown, Stuart M., Neary, David, Mann, David M. A.

Frontotemporal lobar degeneration (FTLD) is clinically, pathologically and genetically heterogeneous. Recent descriptions of a pathological sub-type that is ubiquitin positive, TDP-43 negative and immunostains positive for the Fused in Sarcoma protein (FUS) raises the question whether it is associated with a distinct clinical phenotype identifiable on clinical grounds, and whether mutations in the Fused in […]

Shatunov, Aleksey, Mok, Kin, Newhouse, Stephen, Weale, Michael E, Smith, Bradley, Vance, Caroline, Johnson, Lauren, Veldink, Jan H, van Es, Michael A, van den Berg, Leonard H., Robberecht, Wim, Van Damme, Philip, Hardiman, Orla, Farmer, Anne E, Lewis, Cathryn M, Butler, Amy W, Abel, Olubunmi, Andersen, Peter M, Fogh, Isabella, Silani, Vincenzo, Chiò, Adriano, Traynor, Bryan J, Melki, Judith, Meininger, Vincent, Landers, John E, McGuffin, Peter, Glass, Jonathan D, Pall, Hardev, Leigh, P Nigel, Hardy, John, Brown, Robert H, Powell, John F, Orrell, Richard W, Morrison, Karen E, Shaw, Pamela J, Shaw, Christopher E, Al-Chalabi, Ammar

Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of motor neurons that results in progressive weakness and death from respiratory failure, commonly within about 3 years. Previous studies have shown association of a locus on chromosome 9p with ALS and linkage with ALS-frontotemporal dementia. We aimed to test whether this genomic region is also […]

Bahl, Justyna Maria Czarna, Heegaard, Niels H.H., Falkenhorst, Gerhard, Laursen, Henning, Høgenhaven, Hans, Mølbak, Kåre, Jespersgaard, Cathrine, Hougs, Lotte, Waldemar, Gunhild, Johannsen, Peter, Christiansen, Michael

Laboratory markers have a prominent place among the diagnostic criteria for sporadic Creutzfeldt-Jakob disease (sCJD). Here we investigate the capability of protein 14-3-3, total-tau (t-tau), threonin-181-phosphorylated tau (p-tau), and neuron-specific enolase (NSE) in cerebrospinal fluid (CSF) together with the prion protein gene genotype to discriminate patients with sCJD (n=21) from neurological controls (n=164) and Alzheimer’s […]