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Articles 1 - 21 of 21
Full-Text Articles in Medicine and Health Sciences
Homocysteine, Vitamin B12, And Folic Acid Levels In Alzheimer's Disease, Mild Cognitive Impairment, And Healthy Elderly: Baseline Characteristics In Subjects Of The Australian Imaging Biomarker Lifestyle Study., Noel Faux, Kathryn Ellis, Lorine Porter, Chris Fowler, Simon Laws, Ralph Martins, Kelly Pertile, Alan Rembach, Chris Rowe, Rebecca Rumble, Cassandra Szoeke, Kevin Taddei, Tania Taddei, Brett Trounson, Victor Villemagne, Vanessa Ward, David Ames, Colin Masters, Ashley Bush
Homocysteine, Vitamin B12, And Folic Acid Levels In Alzheimer's Disease, Mild Cognitive Impairment, And Healthy Elderly: Baseline Characteristics In Subjects Of The Australian Imaging Biomarker Lifestyle Study., Noel Faux, Kathryn Ellis, Lorine Porter, Chris Fowler, Simon Laws, Ralph Martins, Kelly Pertile, Alan Rembach, Chris Rowe, Rebecca Rumble, Cassandra Szoeke, Kevin Taddei, Tania Taddei, Brett Trounson, Victor Villemagne, Vanessa Ward, David Ames, Colin Masters, Ashley Bush
Simon Laws
There is some debate regarding the differing levels of plasma homocysteine, vitamin B12 and serum folate between healthy controls (HC), mild cognitive impairment (MCI), and Alzheimer's disease (AD). As part of the Australian Imaging Biomarker Lifestyle (AIBL) study of aging cohort, consisting of 1,112 participants (768 HC, 133 MCI patients, and 211 AD patients), plasma homocysteine, vitamin B12, and serum and red cell folate were measured at baseline to investigate their levels, their inter-associations, and their relationships with cognition. The results of this cross-sectional study showed that homocysteine levels were increased in female AD patients compared to female HC subjects …
Olfactory Dysfunction Is Associated With Subjective Memory Complaints In Community-Dwelling Elderly Individuals, Hamid Sohrabi, Kristyn Bates, Mark Rodrigues, Kevin Taddei, Simon Laws, Nicola Lautenschlager, Satvinder Dhaliwal, Amy Johnston, Alan Mackay-Sim, Samuel Gandy, Jonathan Foster, Ralph Martins
Olfactory Dysfunction Is Associated With Subjective Memory Complaints In Community-Dwelling Elderly Individuals, Hamid Sohrabi, Kristyn Bates, Mark Rodrigues, Kevin Taddei, Simon Laws, Nicola Lautenschlager, Satvinder Dhaliwal, Amy Johnston, Alan Mackay-Sim, Samuel Gandy, Jonathan Foster, Ralph Martins
Simon Laws
Olfactory dysfunction has been reported in clinical and preclinical phases of Alzheimer's disease. Subjective memory complaints have been proposed as a potential early indicator for increased risk of Alzheimer's disease, but have also been associated with depression, personality characteristics, and health problems. In this study, we aimed to determine which of these putative markers can predict memory complaints in community-dwelling elderly individuals, focusing on olfactory symptoms. A cohort of 144 elderly volunteers (42 males and 102 females), aged 50 to 86, was recruited from an ongoing longitudinal study. Participants were assessed for olfactory capacities (threshold, discrimination, and identification), subjective memory …
Plasma Apolipoprotein E And Alzheimer Disease Risk: The Aibl Study Of Aging, Veer Bala Gupta, Simon Laws, Victor Villemagne, David Ames, Ashley Bush, Kathryn Ellis, James Lui, Colin Masters, Christopher Rowe, Cassandra Szoeke, Kevin Taddei, Ralph Martins
Plasma Apolipoprotein E And Alzheimer Disease Risk: The Aibl Study Of Aging, Veer Bala Gupta, Simon Laws, Victor Villemagne, David Ames, Ashley Bush, Kathryn Ellis, James Lui, Colin Masters, Christopher Rowe, Cassandra Szoeke, Kevin Taddei, Ralph Martins
Simon Laws
Objective: There is mounting evidence for the contribution of apoE to the pathophysiology of Alzheimer disease (AD). Studies also indicate that plasma apoE levels may reflect disease status, suggesting that apoE is a potential AD biomarker. However, while some studies of apoE levels in plasma have presented correlations with AD pathology, others have not. Thus, there is a lack of consensus as to the suitability of plasma apoE as an AD biomarker. The major objective of this cross-sectional study was to investigate total plasma apoE as well as levels of the apoE4 form in a large, highly characterized cohort which …
Frontotemporale Lobardegenerationen, Teil 2: Bildgebung, Neuropathologie Und Genetik, Janine Diehl-Schmid, M Neumann, Simon Laws, R Perneczky, T Grimmer, A Danek, Matthias Riemenschneider, Alexander Kurz, H Forstl
Frontotemporale Lobardegenerationen, Teil 2: Bildgebung, Neuropathologie Und Genetik, Janine Diehl-Schmid, M Neumann, Simon Laws, R Perneczky, T Grimmer, A Danek, Matthias Riemenschneider, Alexander Kurz, H Forstl
Simon Laws
Frontotemporal Lobar Degeneration (FTLD) is clinically heterogeneous, less common than Alzheimer's disease (AD), and - if at all - usually diagnosed in the presenium. The most common form, frontotemporal dementia (FTD) is characterized by changes in behaviour and personality, the less common progressive aphasia (PA) by a non-fluent aphasia and semantic dementia (SD) primarily by a loss of vocabulary and concepts. The diagnosis can be very difficult to make and therefore usually made only several years after the occurrence of the first ambiguous symptoms. The diagnosis relies on clinical criteria, including a neuropsychological collection of executive and language skills. Current …
Gonadotropins And Cognition In Older Women, Mark Rodrigues, Giuseppe Verdile, Jonathan Foster, Eva Hogervorst, Karen Joesbury, Satvinder Dhaliwal, Elizabeth Corder, Simon Laws, Eugene Hone, Richard Prince, Amanda Devine, Pankaj Mehta, John Beilby, Craig Atwood, Ralph Martins
Gonadotropins And Cognition In Older Women, Mark Rodrigues, Giuseppe Verdile, Jonathan Foster, Eva Hogervorst, Karen Joesbury, Satvinder Dhaliwal, Elizabeth Corder, Simon Laws, Eugene Hone, Richard Prince, Amanda Devine, Pankaj Mehta, John Beilby, Craig Atwood, Ralph Martins
Simon Laws
Recent research studies associate elevated gonadotropin levels with dementia. Specifically, an age associated increase in levels of luteinizing hormone has been linked to an increased risk of Alzheimer's disease. The objective of this study was to investigate the association between gonadotropin levels and cognition in older, healthy postmenopausal women. Cognitive functioning was compared with plasma levels of estradiol, luteinizing hormone, follicle stimulating hormone, Aβ40 and APOE genetic status in 649 community-dwelling, non-demented older women residing in Western Australia. High endogenous luteinizing hormone levels were associated with a lower cognitive score, especially in older women and in those women that were …
A Functional Polymorphism Within Plasminogen Activator Urokinase (Plau) Is Associated With Alzheimer's Disease, Matthias Riemenschneider, Lidija Konta, Patricia Friedrich, Sandra Schwarz, Kevin Taddei, Frauke Neff, Alessandro Padovani, Heike Kolsch, Simon Laws, Norman Klopp, Heike Bickeboller, Stefan Wagenpfeil, Jakob Mueller, Albert Rosenberger, Janine Diehl-Schmid, Silvana Archetti, Nicola Lautenschlager, Barbara Borroni, Ulrich Muller, Thomas Illig, Reinhard Heun, Rupert Egensperger, Jurgen Schlege, Hans Forstl, Ralph Martins, German Sib-Pair Study Group, Alexander Kurz
A Functional Polymorphism Within Plasminogen Activator Urokinase (Plau) Is Associated With Alzheimer's Disease, Matthias Riemenschneider, Lidija Konta, Patricia Friedrich, Sandra Schwarz, Kevin Taddei, Frauke Neff, Alessandro Padovani, Heike Kolsch, Simon Laws, Norman Klopp, Heike Bickeboller, Stefan Wagenpfeil, Jakob Mueller, Albert Rosenberger, Janine Diehl-Schmid, Silvana Archetti, Nicola Lautenschlager, Barbara Borroni, Ulrich Muller, Thomas Illig, Reinhard Heun, Rupert Egensperger, Jurgen Schlege, Hans Forstl, Ralph Martins, German Sib-Pair Study Group, Alexander Kurz
Simon Laws
A number of susceptibility loci for Alzheimer's disease (AD) have been identified including a region on Chromosome 10q21–q22. Within this region the plasminogen activator urokinase gene (PLAU) was considered as a reasonable candidate from its functional implication in plasmin generation, a serine protease capable of degrading beta-Amyloid (Aβ) protein. We screened 56 single nucleotide polymorphisms (SNPs) around PLAU using 1751 individuals from four independent case–control samples (Munich, N=679; Bonn N=282; Brescia (Italy) N=219; Perth (Australia) N=557 and one discordant sib-pair sample (Munich N=622). In brain tissue samples of neuropathologically confirmed cases with AD (N=33) we analyzed plaque counts according to …
No Association Of Tachykinin Receptor 2 (Tacr2) Polymorphisms With Alzheimer's Disease, Patricia Friedrich, T Feulner, Simon Laws, Klaus Eckart, R Perneczky, Alexander Kurz, H Forstl, Matthias Riemenschneider
No Association Of Tachykinin Receptor 2 (Tacr2) Polymorphisms With Alzheimer's Disease, Patricia Friedrich, T Feulner, Simon Laws, Klaus Eckart, R Perneczky, Alexander Kurz, H Forstl, Matthias Riemenschneider
Simon Laws
The Tachykinin Receptor 2 (TACR2) located at chromosome 10q21.3 belongs to a class of receptors that bind members of the tachykinin neurotransmitter family. The TACR2 binds neurokinin A, also known as substance K, and is expressed in distinct parts of the human brain. Functionally, the TACR2 has been implicated in stress induced hippocampal acetylcholine release and the gene TACR2 is located within a previously identified linkage region for Alzheimer’s disease (AD) on chromosome 10q21. Together, both facts make the TACR2 a reasonable positional and functional candidate gene for AD. Genotyping of 13 single nucleotide polymorphisms (SNPs) covering the entire gene …
Genetic Analysis Of Mapt Haplotype Diversity In Frontotemporal Dementia, Simon Laws, Patricia Friedrich, Janine Diehl-Schmid, Jakob Muller, B Ibach, J Bauml, T Eisele, H Forstl, Alexander Kurz, Matthias Riemenschneider
Genetic Analysis Of Mapt Haplotype Diversity In Frontotemporal Dementia, Simon Laws, Patricia Friedrich, Janine Diehl-Schmid, Jakob Muller, B Ibach, J Bauml, T Eisele, H Forstl, Alexander Kurz, Matthias Riemenschneider
Simon Laws
The H1 haplotype of the tau gene, MAPT, has been linked to the sporadic tauopathies corticobasal degeneration and progressive supranuclear palsy; however, there have been inconsistent findings regarding association with frontotemporal dementia (FTD). We investigated MAPT haplotype diversity, in 171 sporadic FTD and 186 healthy controls individuals, and report no single marker or haplotype association with increased risk or changes in age at onset. These findings do not support an association of MAPT with FTD but do not rule out its association with other tauopathies.
Cognition And Beta-Amyloid In Preclinical Alzheimer's Disease: Data From The Aibl Study, Kerryn Pike, Kathryn A Ellis, Victor L Villemagne, Norm Good, Gael Chetelat, David Ames, Cassandra Szoeke, Simon Laws, Giuseppe Verdile, Ralph Martins, Colin L Masters, Christopher C Rowe
Cognition And Beta-Amyloid In Preclinical Alzheimer's Disease: Data From The Aibl Study, Kerryn Pike, Kathryn A Ellis, Victor L Villemagne, Norm Good, Gael Chetelat, David Ames, Cassandra Szoeke, Simon Laws, Giuseppe Verdile, Ralph Martins, Colin L Masters, Christopher C Rowe
Simon Laws
The ‘preclinical’ phase of Alzheimer's disease is a future target for treatment, but additional research is essential to understand the relationship between β-amyloid burden and cognition during this time. We investigated this relationship using a large sample of apparently healthy older adults (N = 177), which also enabled examination of whether the relationship differed according to age, gender, years of education, apolipoprotein E status, and the presence of subjective memory complaints. In addition to episodic memory, a range of cognitive measures (global cognition, semantic memory, visuospatial performance, and executive function) were examined. Participants were aged over 60 years with no …
Novel Phage Peptides Attenuate Beta Amyloid-42 Catalysed Hydrogen Peroxide Production And Associated Neurotoxicity, Kevin Taddei, Simon Laws, Giuseppe Verdile, S Munns, K D'Costa, A Harvey, I Martins, F Hill, E Levy, J Shaw, Ralph Martins
Novel Phage Peptides Attenuate Beta Amyloid-42 Catalysed Hydrogen Peroxide Production And Associated Neurotoxicity, Kevin Taddei, Simon Laws, Giuseppe Verdile, S Munns, K D'Costa, A Harvey, I Martins, F Hill, E Levy, J Shaw, Ralph Martins
Simon Laws
Amyloid-β (Aβ) peptides play a central role in the pathogenesis of Alzheimer's disease. There is accumulating evidence that supports the notion that the toxicity associated with human Aβ (both 40 and 42) is dependent on its superoxide dismutase (SOD)-like activity. We developed a novel screening method involving phage display technology to identify novel peptides capable of inhibiting Aβ's neurotoxicity. Two random peptide libraries containing 6-mer and 15-mer peptide inserts were used and resulted in the identification of 25 peptides that bound human Aβ (40 or 42). Here, we show that two of the three most enriched peptides obtained significantly reduced …
Neurological Soft Signs Are Associated With Apoe Genotype, Age And Cognitive Performance, Nicola Lautenschlager, Jing-Shan Wu, Simon Laws, Osvaldo Almeida, Roger Clarnette, Karen Joesbury, Stefan Wagenpfeil, Georgia Martins, Athena Paton, Sam Gandy, Hans Forstl, Ralph Martins
Neurological Soft Signs Are Associated With Apoe Genotype, Age And Cognitive Performance, Nicola Lautenschlager, Jing-Shan Wu, Simon Laws, Osvaldo Almeida, Roger Clarnette, Karen Joesbury, Stefan Wagenpfeil, Georgia Martins, Athena Paton, Sam Gandy, Hans Forstl, Ralph Martins
Simon Laws
Neurodegeneration is associated with increased frequency of neurological soft signs (NSS). We designed the present study to investigate the association between NSS and subjective memory complaints, cognitive function and apolipoprotein E genotype in a community-dwelling sample of volunteers participating in an ongoing longitudinal program investigating predictors of cognitive decline. NSS were found to be associated with apolipoprotein E (APOE) ε4 genotype (p = 0.015), age (p = 0.012) and poor cognitive performance, as assessed by the Mini Mental State Examination (p = 0.053). There was no significant difference between subjects with and without memory complaints in relation to the frequency …
Functional Effects Of Genetic Polymorphism In Inflammatory Genes In Subjective Memory Complainers., Simon Lau, Kristyn Bates, Hamid Sohrabi, Mark Rodrigues, Georgia Martins, Satvinder Dhaliwal, Kevin Taddei, Simon Laws, Ian Martins, Francis Mastaglia, Jonathan Foster, Jacqueline Phillips, Ralph Martins
Functional Effects Of Genetic Polymorphism In Inflammatory Genes In Subjective Memory Complainers., Simon Lau, Kristyn Bates, Hamid Sohrabi, Mark Rodrigues, Georgia Martins, Satvinder Dhaliwal, Kevin Taddei, Simon Laws, Ian Martins, Francis Mastaglia, Jonathan Foster, Jacqueline Phillips, Ralph Martins
Simon Laws
A number of genetic risk factors have been identified for Alzheimer’s disease (AD) including genes involved in the inflammatory response (interleukin 1A, [IL-1 (-889)], interleukin 1B (IL-1 [ 3953]), and tumor necrosis factor (TNF [-308 and -850]). We investigated the prevalence and functional consequences (baseline cognitive performance, plasma cytokine levels) of possession of these putative genetic risk factors within a group of subjective memory complainers (SMC, n 226) and age and sex matched noncomplainers (NMC, n 167). We observed no effect of any of the genetic factors investigated on cognitive performance. Further, there was no difference in the frequency of …
The Role Of Beta Amyloid In Alzheimer's Disease: Still A Cause Of Everything Or The Only One Who Got Caught?, Giuseppe Verdile, Stephanie Fuller, Craig Atwood, Simon Laws, Samuel Gandy, Ralph Martins
The Role Of Beta Amyloid In Alzheimer's Disease: Still A Cause Of Everything Or The Only One Who Got Caught?, Giuseppe Verdile, Stephanie Fuller, Craig Atwood, Simon Laws, Samuel Gandy, Ralph Martins
Simon Laws
The beta amyloid (Aβ) protein is a key molecule in the pathogenesis of Alzheimer’s disease (AD). The tendency of the Aβ peptide to aggregate, its reported neurotoxicity, and genetic linkage studies, have led to a hypothesis of AD pathogenesis that many AD researchers term the amyloid cascade hypothesis. In this hypothesis, an increased production of Aβ results in neurodegeneration and ultimately dementia through a cascade of events. In the past 15 years, debate amongst AD researchers has arisen as to whether Aβ is a cause or an effect of the pathogenic process. Recent in vitro and in vivo research has …
Examination Of The Current Top Candidate Genes For Ad In A Genome-Wide Association Study, T Feulner, Simon Laws, Patricia Friedrich, S Wagenpfeil, S Wurst, K Kuhn, M Krawczak, S Schreiber, S Nikolaus, Hans Foerstl, Alexander Kurz, Matthias Riemenschneider
Examination Of The Current Top Candidate Genes For Ad In A Genome-Wide Association Study, T Feulner, Simon Laws, Patricia Friedrich, S Wagenpfeil, S Wurst, K Kuhn, M Krawczak, S Schreiber, S Nikolaus, Hans Foerstl, Alexander Kurz, Matthias Riemenschneider
Simon Laws
With the advent of technologies that allow simultaneous genotyping of thousands of singlenucleotide polymorphisms (SNPs) across the genome, the genetic contributions to complex diseases can be explored at an unprecedented detail. This study is among the first to apply the genome-wide association study (GWAS) approach to Alzheimer disease (AD). We present our GWAS results from the German population for genes included in the ‘Top Results’ list on the AlzGene database website. In addition to the apolipoprotein E locus, we identified nominally significant association signals in six of the ten genes investigated, albeit predominantly for SNPs other than those already published …
No Association Of Common Vcp Variants With Sporadic Frontotemporal Dementia, Axel Schumacher, Patricia Friedrich, Janine Diehl-Schmid, Bernd Ibach, Andreas Schoepfer-Wendels, Jakob Mueller, Lidija Konta, Simon Laws, Alexander Kurz, Hans Foerstl, Matthias Riemenschneider
No Association Of Common Vcp Variants With Sporadic Frontotemporal Dementia, Axel Schumacher, Patricia Friedrich, Janine Diehl-Schmid, Bernd Ibach, Andreas Schoepfer-Wendels, Jakob Mueller, Lidija Konta, Simon Laws, Alexander Kurz, Hans Foerstl, Matthias Riemenschneider
Simon Laws
Mutations in the gene for valosin containing protein (VCP) cause autosomal dominant inclusion body myopathy associated with Paget disease and frontotemporal dementia (IBMPFD). To investigate the role of this novel gene in sporadic forms of frontotemporal dementia (FTD), we genotyped 27 single nucleotide polymorphisms covering the entire VCP genomic region in 198 patients with sporadic FTD and 184 matched controls from Germany. No significant association could be demonstrated. There is no evidence, that common variants in VCP confer a strong risk to the development of sporadic FTD.
The Relationship Between Memory Complaints, Perceived Quality Of Life And Mental Health In Apolipoprotein Eepsilon4 Carriers And Non-Carriers, Hamid Sohrabi, Kristyn Bates, Mark Rodrigues, Kevin Taddei, Georgia Martins, Simon Laws, Nicola Lautenschlager, Satvinder Dhaliwal, Jonathan Foster, Ralph Martins
The Relationship Between Memory Complaints, Perceived Quality Of Life And Mental Health In Apolipoprotein Eepsilon4 Carriers And Non-Carriers, Hamid Sohrabi, Kristyn Bates, Mark Rodrigues, Kevin Taddei, Georgia Martins, Simon Laws, Nicola Lautenschlager, Satvinder Dhaliwal, Jonathan Foster, Ralph Martins
Simon Laws
Apolipoprotein E ε4 (APOE-ε4) is a major genetic risk factor for Alzheimer's disease. In this study, we addressed the question of whether possession of the APOE-ε4 allele results in adverse effects on perceived health-related quality of life (HRQL) and on symptoms of depression and anxiety in people with subjective memory complaints (SMC). 138 healthy, community-dwelling elderly volunteers, aged 52 to 85, were assessed for HRQL, depression, and anxiety. The participants were classified as i) APOE-ε4 carriers or ii) non-carriers with a) SMC or b) without memory complaints. The possible interactions of APOE genotype, gender, and SMC on HRQL, depression, and …
Association Of Cardiovascular Factors And Alzhemer's Disease Plasma Amyloid-Beta Protein In Subjective Memory Complainers, Kristyn Bates, Hamid Sohrabi, Mark Rodrigues, John Beilby, Satvinda Dhaliwal, Kevin Taddei, Arthur Criddle, Megan Wraith, Matthew Howard, Georgia Martins, Athena Paton, Pankaj Mehta, Jonathan Foster, Ian Martins, Nicola Launtenschlager, Frank Mastaglia, Simon Laws, Sam Gandy, Ralph Martins
Association Of Cardiovascular Factors And Alzhemer's Disease Plasma Amyloid-Beta Protein In Subjective Memory Complainers, Kristyn Bates, Hamid Sohrabi, Mark Rodrigues, John Beilby, Satvinda Dhaliwal, Kevin Taddei, Arthur Criddle, Megan Wraith, Matthew Howard, Georgia Martins, Athena Paton, Pankaj Mehta, Jonathan Foster, Ian Martins, Nicola Launtenschlager, Frank Mastaglia, Simon Laws, Sam Gandy, Ralph Martins
Simon Laws
A strong link is indicated between cardiovascular disease (CVD) and risk for developing Alzheimer's disease (AD), which may be exacerbated by the major AD genetic risk factor apolipoprotein Eε4 (APOEε4). Since subjective memory complaint (SMC) may potentially be an early indicator for cognitive decline, we examined CVD risk factors in a cohort of SMC. As amyloid-ε (Aβ) is considered to play a central role in AD, we hypothesized that the CVD risk profile (increased LDL, reduced HDL, and increased body fat) would be associated with plasma Aβ levels. We explored this in 198 individuals with and without SMC (average age …
Frontotemporale Lobardegenerationen, Teil 1: Diagnose Und Therapie, A Danek, J Diehl-Schmid, T Grimmer, Simon Laws, M Neumann, R Perneczky, Matthias Riemenschneider, A Kurz, H Forstl
Frontotemporale Lobardegenerationen, Teil 1: Diagnose Und Therapie, A Danek, J Diehl-Schmid, T Grimmer, Simon Laws, M Neumann, R Perneczky, Matthias Riemenschneider, A Kurz, H Forstl
Simon Laws
Frontotemporal Lobar Degeneration (FTLD) is clinically heterogeneous, less common than Alzheimer's disease (AD), and - if at all - usually diagnosed in the presenium. The most common form, frontotemporal dementia (FTD) is characterized by changes in behaviour and personality, the less common progressive aphasia (PA) by a non-fluent aphasia and semantic dementia (SD) primarily by a loss of vocabulary and concepts. The diagnosis can be very difficult to make and therefore usually made only several years after the occurrence of the first ambiguous symptoms. The diagnosis relies on clinical criteria, including a neuropsychological collection of executive and language skills. Current …
No Association Of Lipase C Polymorphisms With Alzheimer's Disease, Simon Laws, Klaus Eckart, Patricia Friedrich, T Eisele, Alexander Kurz, H Forstl, Matthias Riemenschneider
No Association Of Lipase C Polymorphisms With Alzheimer's Disease, Simon Laws, Klaus Eckart, Patricia Friedrich, T Eisele, Alexander Kurz, H Forstl, Matthias Riemenschneider
Simon Laws
Hepatic lipase, also known as hepatic triglyceride lipase (LIPC), much like the major genetic risk factor for Alzheimer’s disease (AD), apolipoprotein E (APOE), is associated with altered lipid metabolism. As such this link makes LIPC a potential functional candidate for AD risk. Previously, three single nucleotide polymorphisms (SNPs) have been investigated in AD with a lack of association reported. To rule out a possible contribution of other variants in LIPC, located at 15q21-q23, we used a detailed fine mapping approach in a German case–control sample. Genotyping of 25 single nucleotide polymorphisms covering the complete LIPC gene and haplotypic analysis revealed …
Lack Of Evidence To Support The Association Of Polymorphisms Within The Alpha- And Beta-Secretase Genes (Adam10/Bace1) With Alzheimer's Disease, Simon Laws, Klaus Eckart, Patricia Friedrich, Alexander Kurz, H Forstl, Matthias Riemenschneider
Lack Of Evidence To Support The Association Of Polymorphisms Within The Alpha- And Beta-Secretase Genes (Adam10/Bace1) With Alzheimer's Disease, Simon Laws, Klaus Eckart, Patricia Friedrich, Alexander Kurz, H Forstl, Matthias Riemenschneider
Simon Laws
Cleavage of the amyloid precursor protein (APP) occurs through either an amyloidogenic or a non-amyloidogenic pathway. The first results in the generation of beta-amyloid (A ) and is initiated through cleavage by the beta-site amyloid beta A4 precursor protein-cleaving enzyme 1 (BACE1). The second precludes the formation of A through cleavage by alpha-secretase, an enzyme’s activity demonstrated in a disintegrin metalloproteinase, ADAM10. To assess the contribution of variants in the BACE1 and ADAM10 genes we used a detailed fine mapping approach. Genotyping of 11 single nucleotide polymorphisms covering the complete BACE1 gene, and 27 covering the entire ADAM10 gene, revealed …
Tnf Polymorphisms In Alzheimer Disease And Functional Implications On Csf Beta-Amyloid Levels, Simon Laws, Robert Perneczky, Stefan Wagenpfeil, Ulrich Muller, Hans Forstl, Ralph Martins, Alexander Kurz, Matthias Riemenschneider
Tnf Polymorphisms In Alzheimer Disease And Functional Implications On Csf Beta-Amyloid Levels, Simon Laws, Robert Perneczky, Stefan Wagenpfeil, Ulrich Muller, Hans Forstl, Ralph Martins, Alexander Kurz, Matthias Riemenschneider
Simon Laws
Alzheimer disease (AD), vascular dementia, and stroke are all associated with inflammation though their respective initiating factors differ. Recently a polymorphism in the proinflammatory cytokine tumor necrosis factor (TNF), in association with apolipoprotein E (APOE), was reported to increase AD risk. Two SNPs, rs1799724 (–850C>T; NT_007592.14:g.22400733C>T) and rs1800629 (–308G>A; [NT_007592.14:g.22401282G>A]), and the APOE polymorphism were genotyped in 506 patients with sporadic AD and in 277 cognitively healthy controls. In a subset of 90 individuals we also investigated whether these SNPs exerted any functional effects on cerebrospinal fluid (CSF) beta-amyloid (Aβ) levels. The frequency of the rs1799724 …