This database contains 63 studies, archived under the term: "genetics"
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Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients
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 […]
The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene
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 […]
Diagnostic performance of cerebrospinal fluid total tau and phosphorylated tau in Creutzfeldt-Jakob disease: results from the Swedish Mortality Registry
Skillbäck, Tobias,
Rosén, Christoffer,
Asztely, Fredrik,
Mattsson, Niklas,
Blennow, Kaj,
Zetterberg, Henrik
Importance: Identifying a clinical distinction between the invariably lethal prion disease Creutzfeldt-Jakob disease (CJD) and nonprion rapidly progressive dementias is important and sometimes difficult; thus, reliable tools for diagnosis are in great demand.; Objective: To test the diagnostic performance of dementia cerebrospinal fluid (CSF) biomarkers total tau (T-tau), phosphorylated tau (P-tau), and the T-tau to […]
Cognitive dysfunction in HIV patients despite long-standing suppression of viremia
Simioni, Samanta,
Cavassini, Matthias,
Annoni, Jean-Marie,
Rimbault Abraham, Aline,
Bourquin, Isabelle,
Schiffer, Véronique,
Calmy, Alexandra,
Chave, Jean-Philippe,
Giacobini, Ezio,
Hirschel, Bernard,
Du Pasquier, Renaud A.
Objective: To determine the prevalence of cognitive complaints and HIV-associated neurocognitive disorders (HANDs) in a cohort of aviremic HIV-positive patients. To evaluate the relevance of the HIV dementia scale to detect HANDs.; Design: Assessment of HANDs with neuropsychological tests.; Methods: Two hundred HIV-infected patients with undetectable HIV-1 RNA concentrations in the plasma, no history of […]
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study
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 […]
Glucose metabolism and PIB binding in carriers of a His163Tyr presenilin 1 mutation
Schöll, Michael,
Almkvist, Ove,
Axelman, Karin,
Stefanova, Elka,
Wall, Anders,
Westman, Eric,
Långström, Bengt,
Lannfelt, Lars,
Graff, Caroline,
Nordberg, Agneta
Six young related pre-symptomatic carriers of a His163Tyr mutation in the presenilin 1 gene who will develop early onset familial Alzheimer’s disease (eoFAD), and a control group of 23 non-carriers underwent (18)F-fluorodeoxyglucose positron emission tomography (FDG PET). The mutation carriers were followed-up after 2 years. Multivariate analysis showed clear separation of carriers from non-carriers on […]
Two phase 3 trials of bapineuzumab in mild-to-moderate Alzheimer’s disease
Salloway, Stephen,
Sperling, Reisa,
Fox, Nick C.,
Blennow, Kaj,
Klunk, William,
Raskind, Murray,
Sabbagh, Marwan,
Honig, Lawrence S.,
Porsteinsson, Anton P.,
Ferris, Steven,
Reichert, Marcel,
Ketter, Nzeera,
Nejadnik, Bijan,
Guenzler, Volkmar,
Miloslavsky, Maja,
Wang, Daniel,
Lu, Yuan,
Lull, Julia,
Tudor, Iulia Cristina,
Liu, Enchi,
Grundman, Michael,
Yuen, Eric,
Black, Ronald,
Brashear, H. Robert
Background: Bapineuzumab, a humanized anti-amyloid-beta monoclonal antibody, is in clinical development for the treatment of Alzheimer’s disease.; Methods: We conducted two double-blind, randomized, placebo-controlled, phase 3 trials involving patients with mild-to-moderate Alzheimer’s disease–one involving 1121 carriers of the apolipoprotein E (APOE) ε4 allele and the other involving 1331 noncarriers. Bapineuzumab or placebo, with doses varying […]
Application of immunosignatures to the assessment of Alzheimer’s disease
Objective: Accurate assessment of Alzheimer’s disease (AD), both presymptomatically and at different disease stages, will become increasingly important with the expanding elderly population. There are a number of indications that the immune system is engaged in AD. Here we explore the ability of an antibody-profiling technology to characterize AD and screen for peptides that may […]
Prediction of manifest Huntington’s disease with clinical and imaging measures: a prospective observational study
Paulsen, Jane S.,
Long, Jeffrey D,
Ross, Christopher A,
Harrington, Deborah L,
Erwin, Cheryl J,
Williams, Janet K,
Westervelt, Holly James,
Johnson, Hans J,
Aylward, Elizabeth H,
Zhang, Ying,
Bockholt, H Jeremy,
Barker, Roger A
Background: Although the association between cytosine-adenine-guanine (CAG) repeat length and age at onset of Huntington’s disease is well known, improved prediction of onset would be advantageous for clinical trial design and prognostic counselling. We compared various measures for tracking progression and predicting conversion to manifest Huntington’s disease.; Methods: In this prospective observational study, we assessed […]