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Article ; Online: Missense substitutions associated with behavioural disturbances in Alzheimer's disease (AD).

Proitsi, Petroula / Powell, John F

2012 Volume 88, Issue 5, Page(s) 394–405

Abstract: Behavioural and psychological symptoms in dementia, or BPSD, occur in the majority of Alzheimer's disease (AD) patients. They are associated with considerable patient morbidity and greater care-giver stress. There is some evidence suggesting that BPSD ... ...

Abstract	Behavioural and psychological symptoms in dementia, or BPSD, occur in the majority of Alzheimer's disease (AD) patients. They are associated with considerable patient morbidity and greater care-giver stress. There is some evidence suggesting that BPSD have a genetic component and a large number of studies have examined the association of candidate genes with these symptoms. This review provides a comprehensive summary of all the published studies investigating the association of candidate gene missense substitutions with BPSD. Missense substitutions could potentially alter protein function or render the protein non-functional, resulting in phenotypic consequences. More than 80 studies investigating the association of 8 missense substitutions in 7 genes with BPSD were identified. However, results of these studies are contradictory and do not provide firm support for these associations. Larger studies and more systematic approaches will delineate the association of missense substitutions with behavioural symptoms in AD.
MeSH term(s)	Alzheimer Disease/genetics ; Alzheimer Disease/mortality ; Alzheimer Disease/psychology ; Amino Acid Substitution/genetics ; Humans ; Mental Disorders/genetics ; Mental Disorders/psychology ; Mutation, Missense/genetics ; Phenotype ; Risk Factors ; Stress, Psychological/genetics
Language	English
Publishing date	2012-08-01
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	197620-5
ISSN	1873-2747 ; 0361-9230
ISSN (online)	1873-2747
ISSN	0361-9230
DOI	10.1016/j.brainresbull.2012.02.010
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Zs.A 1243: Show issues

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Article ; Online: A randomized controlled trial with a delayed-type hypersensitivity model using keyhole limpet haemocyanin to evaluate adaptive immune responses in man.

Saghari, Mahdi / Gal, Pim / Ziagkos, Dimitrios / Burggraaf, Jacobus / Powell, John F / Brennan, Nuala / Rissmann, Robert / van Doorn, Martijn B A / Moerland, Matthijs

British journal of clinical pharmacology

2020 Volume 87, Issue 4, Page(s) 1953–1962

Abstract: Aims: Keyhole limpet haemocyanin (KLH) immunization is a clinical model for the evaluation of human antibody responses. The current study evaluated the anti-KLH antibody response after KLH immunization and the delayed-type hypersensitivity response ... ...

Abstract	Aims: Keyhole limpet haemocyanin (KLH) immunization is a clinical model for the evaluation of human antibody responses. The current study evaluated the anti-KLH antibody response after KLH immunization and the delayed-type hypersensitivity response following intradermal KLH administration, using objective imaging techniques. Methods: Healthy male subjects aged 24.5 ± 5.4 years were randomized to intramuscular immunization with 100 μg KLH (n = 12) or placebo (n = 3). Anti-KLH antibody (Ig) M and IgG titres were determined before and every 7 days after KLH immunization for a total of 28 days. Twenty-one days after the immunization, all subjects received 1 μg KLH intradermally. Prior to and 2 days after intradermal KLH administration, skin blood perfusion, erythema and oedema were quantified using noninvasive imaging tools. Repeated measures ANCOVAs were used to analyse data. Results: Anti-KLH IgM and IgG titres increased after KLH immunization compared to placebo (estimated difference [ED]: 37%, 95% confidence interval [CI]: 19-51% and ED: 68%, 95% CI: 56-76% respectively). Upon intradermal KLH administration an increase in skin blood perfusion (ED: 10.9 arbitrary units (AU), 95% CI: 1.4-20.4 AU) and erythema (ED: 0.3 AU, 95% CI: 0.1-0.5 AU) was observed in KLH-immunized subjects compared to placebo. Conclusion: KLH immunization followed by intradermal KLH administration resulted in increased anti-KLH IgM and IgG titres and a delayed-type hypersensitivity response quantified by an increase in skin blood perfusion and erythema. Using noninvasive imaging tools the KLH model has the potential to serve as an objective tool to study the pharmacodynamics of T-cell-directed immunomodulatory drugs.
MeSH term(s)	Antibody Formation ; Hemocyanins ; Humans ; Immunization ; Immunoglobulin G ; Male ; T-Lymphocytes ; Vaccination
Chemical Substances	Immunoglobulin G ; Hemocyanins (9013-72-3)
Language	English
Publishing date	2020-10-28
Publishing country	England
Document type	Journal Article ; Randomized Controlled Trial ; Research Support, Non-U.S. Gov't
ZDB-ID	188974-6
ISSN	1365-2125 ; 0306-5251 ; 0264-3774
ISSN (online)	1365-2125
ISSN	0306-5251 ; 0264-3774
DOI	10.1111/bcp.14588
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Zs.A 1118: Show issues

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Article ; Online: Credibility analysis of putative disease-causing genes using bioinformatics.

Abel, Olubunmi / Powell, John F / Andersen, Peter M / Al-Chalabi, Ammar

PloS one

2013 Volume 8, Issue 6, Page(s) e64899

Abstract: Background: Genetic studies are challenging in many complex diseases, particularly those with limited diagnostic certainty, low prevalence or of old age. The result is that genes may be reported as disease-causing with varying levels of evidence, and in ...

Abstract	Background: Genetic studies are challenging in many complex diseases, particularly those with limited diagnostic certainty, low prevalence or of old age. The result is that genes may be reported as disease-causing with varying levels of evidence, and in some cases, the data may be so limited as to be indistinguishable from chance findings. When there are large numbers of such genes, an objective method for ranking the evidence is useful. Using the neurodegenerative and complex disease amyotrophic lateral sclerosis (ALS) as a model, and the disease-specific database ALSoD, the objective is to develop a method using publicly available data to generate a credibility score for putative disease-causing genes. Methods: Genes with at least one publication suggesting involvement in adult onset familial ALS were collated following an exhaustive literature search. SQL was used to generate a score by extracting information from the publications and combined with a pathogenicity analysis using bioinformatics tools. The resulting score allowed us to rank genes in order of credibility. To validate the method, we compared the objective ranking with a rank generated by ALS genetics experts. Spearman's Rho was used to compare rankings generated by the different methods. Results: The automated method ranked ALS genes in the following order: TARDBP, FUS, ANG, SPG11, NEFH, OPTN, ALS2, SETX, FIG4, VAPB, DCTN1, TAF15, VCP, DAO. This compared very well to the ranking of ALS genetics experts, with Spearman's Rho of 0.69 (P = 0.009). Conclusion: We have presented an automated method for scoring the level of evidence for a gene being disease-causing. In developing the method we have used the model disease ALS, but it could equally be applied to any disease in which there is genotypic uncertainty.
MeSH term(s)	Alleles ; Amyotrophic Lateral Sclerosis/genetics ; Computational Biology ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Models, Genetic ; Models, Statistical ; Reproducibility of Results ; Statistics, Nonparametric
Language	English
Publishing date	2013-06-05
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0064899
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Article ; Online: The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases.

Chen, Zhongbo / Reynolds, Regina H / Pardiñas, Antonio F / Gagliano Taliun, Sarah A / van Rheenen, Wouter / Lin, Kuang / Shatunov, Aleksey / Gustavsson, Emil K / Fogh, Isabella / Jones, Ashley R / Robberecht, Wim / Corcia, Philippe / Chiò, Adriano / Shaw, Pamela J / Morrison, Karen E / Veldink, Jan H / van den Berg, Leonard H / Shaw, Christopher E / Powell, John F /

Silani, Vincenzo / Hardy, John A / Houlden, Henry / Owen, Michael J / Turner, Martin R / Ryten, Mina / Al-Chalabi, Ammar

Neurobiology of disease

2023 Volume 180, Page(s) 106082

Abstract: Humans are thought to be more susceptible to neurodegeneration than equivalently-aged primates. It is not known whether this vulnerability is specific to anatomically-modern humans or shared with other hominids. The contribution of introgressed ... ...

Abstract	Humans are thought to be more susceptible to neurodegeneration than equivalently-aged primates. It is not known whether this vulnerability is specific to anatomically-modern humans or shared with other hominids. The contribution of introgressed Neanderthal DNA to neurodegenerative disorders remains uncertain. It is also unclear how common variants associated with neurodegenerative disease risk are maintained by natural selection in the population despite their deleterious effects. In this study, we aimed to quantify the genome-wide contribution of Neanderthal introgression and positive selection to the heritability of complex neurodegenerative disorders to address these questions. We used stratified-linkage disequilibrium score regression to investigate the relationship between five SNP-based signatures of natural selection, reflecting different timepoints of evolution, and genome-wide associated variants of the three most prevalent neurodegenerative disorders: Alzheimer's disease, amyotrophic lateral sclerosis and Parkinson's disease. We found no evidence for enrichment of positively-selected SNPs in the heritability of Alzheimer's disease, amyotrophic lateral sclerosis and Parkinson's disease, suggesting that common deleterious disease variants are unlikely to be maintained by positive selection. There was no enrichment of Neanderthal introgression in the SNP-heritability of these disorders, suggesting that Neanderthal admixture is unlikely to have contributed to disease risk. These findings provide insight into the origins of neurodegenerative disorders within the evolution of Homo sapiens and addresses a long-standing debate, showing that Neanderthal admixture is unlikely to have contributed to common genetic risk of neurodegeneration in anatomically-modern humans.
MeSH term(s)	Animals ; Humans ; Neanderthals/genetics ; Neurodegenerative Diseases/genetics ; Alzheimer Disease ; Parkinson Disease ; Amyotrophic Lateral Sclerosis ; Selection, Genetic
Language	English
Publishing date	2023-03-15
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1211786-9
ISSN	1095-953X ; 0969-9961
ISSN (online)	1095-953X
ISSN	0969-9961
DOI	10.1016/j.nbd.2023.106082
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Zs.A 4444: Show issues

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Article ; Online: Origins of delusions in Alzheimer's disease.

Reeves, Suzanne J / Gould, Rebecca L / Powell, John F / Howard, Robert J

Neuroscience and biobehavioral reviews

2012 Volume 36, Issue 10, Page(s) 2274–2287

Abstract: Research over the past two decades supports a shared aetiology for delusions in Alzheimer's disease (AD) and schizophrenia. Functional networks involved in salience attribution and belief evaluation have been implicated in the two conditions, and ... ...

Abstract	Research over the past two decades supports a shared aetiology for delusions in Alzheimer's disease (AD) and schizophrenia. Functional networks involved in salience attribution and belief evaluation have been implicated in the two conditions, and striatal D2/3 receptors are increased to a comparable extent. Executive/frontal deficits are common to both disorders and predict emergent symptoms. Putative risk genes for schizophrenia, which may modify the AD process, have been more strongly implicated in delusions than those directly linked with late-onset AD. Phenotypic correlates of delusions in AD may be dependent upon delusional subtype. Persecutory delusions occur early in the disease and are associated with neurochemical and neuropathological changes in frontostriatal circuits. In contrast, misidentification delusions are associated with greater global cognitive deficits and advanced limbic pathology. It is unclear whether the two subtypes are phenomenologically and biologically distinct or are part of a continuum, in which misidentification delusions manifest increasingly as the pathological process extends. This has treatment implications, particularly if they are found to have discrete chemical and/or pathological markers.
MeSH term(s)	Alzheimer Disease/complications ; Alzheimer Disease/epidemiology ; Alzheimer Disease/genetics ; Alzheimer Disease/psychology ; Brain/pathology ; Delusions/epidemiology ; Delusions/etiology ; Delusions/genetics ; Delusions/pathology ; Diagnostic Imaging ; Humans ; Neurons/pathology
Language	English
Publishing date	2012-11
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	282464-4
ISSN	1873-7528 ; 0149-7634
ISSN (online)	1873-7528
ISSN	0149-7634
DOI	10.1016/j.neubiorev.2012.08.001
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Zs.A 1371: Show issues

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Article ; Online: ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics.

Abel, Olubunmi / Powell, John F / Andersen, Peter M / Al-Chalabi, Ammar

Human mutation

2012 Volume 33, Issue 9, Page(s) 1345–1351

Abstract: Amyotrophic lateral sclerosis (ALS) is the commonest adult onset motor neuron disease, with a peak age of onset in the seventh decade. With advances in genetic technology, there is an enormous increase in the volume of genetic data produced, and a ... ...

Abstract	Amyotrophic lateral sclerosis (ALS) is the commonest adult onset motor neuron disease, with a peak age of onset in the seventh decade. With advances in genetic technology, there is an enormous increase in the volume of genetic data produced, and a corresponding need for storage, analysis, and interpretation, particularly as our understanding of the relationships between genotype and phenotype mature. Here, we present a system to enable this in the form of the ALS Online Database (ALSoD at http://alsod.iop.kcl.ac.uk), a freely available database that has been transformed from a single gene storage facility recording mutations in the SOD1 gene to a multigene ALS bioinformatics repository and analytical instrument combining genotype, phenotype, and geographical information with associated analysis tools. These include a comparison tool to evaluate genes side by side or jointly with user configurable features, a pathogenicity prediction tool using a combination of computational approaches to distinguish variants with nonfunctional characteristics from disease-associated mutations with more dangerous consequences, and a credibility tool to enable ALS researchers to objectively assess the evidence for gene causation in ALS. Furthermore, integration of external tools, systems for feedback, annotation by users, and two-way links to collaborators hosting complementary databases further enhance the functionality of ALSoD.
MeSH term(s)	Amyotrophic Lateral Sclerosis/diagnosis ; Amyotrophic Lateral Sclerosis/genetics ; Computational Biology/methods ; Databases, Genetic ; Genetic Association Studies ; Genetic Predisposition to Disease ; Geography ; Humans ; Information Storage and Retrieval ; Internet ; Mutation ; Phenotype ; Superoxide Dismutase/genetics ; Superoxide Dismutase-1 ; User-Computer Interface
Chemical Substances	SOD1 protein, human ; Superoxide Dismutase (EC 1.15.1.1) ; Superoxide Dismutase-1 (EC 1.15.1.1)
Language	English
Publishing date	2012-09
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1126646-6
ISSN	1098-1004 ; 1059-7794
ISSN (online)	1098-1004
ISSN	1059-7794
DOI	10.1002/humu.22157
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Zs.A 3586: Show issues

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Article ; Online: Smell identification function as a severity and progression marker in Alzheimer's disease.

Velayudhan, Latha / Pritchard, Megan / Powell, John F / Proitsi, Petroula / Lovestone, Simon

International psychogeriatrics

2013 Volume 25, Issue 7, Page(s) 1157–1166

Abstract: Background: Olfactory dysfunction, impaired smell identification in particular, is known as a diagnostic and a marker of conversion in Alzheimer's disease (AD). We aimed to evaluate the associations of olfactory identification impairments with cognition, ...

Abstract	Background: Olfactory dysfunction, impaired smell identification in particular, is known as a diagnostic and a marker of conversion in Alzheimer's disease (AD). We aimed to evaluate the associations of olfactory identification impairments with cognition, illness severity, and progression in AD patients. Methods: Fifty-seven outpatients with late onset mild to moderate AD and 24 elderly non-demented controls (NDC) were assessed, at baseline and after three months, for Mini-Mental State Examination (MMSE), University of Pennsylvania Smell Identification Test (UPSIT), and Bristol Activities of Daily Living and Neuropsychiatry Inventory. AD participants were classified as Rapid Cognitive Decliners (RCD) defined on a priori with a loss of ≥2 points in MMSE within the previous six months. Results: AD participants had lower olfactory scores than NDC. RCD had lower olfaction scores compared with Non-Rapid Cognitive Decliners (NRCD). Although the baseline UPSIT scores were associated with baseline MMSE scores, it did not interact significantly with change in MMSE over the follow-up period. Using a median split for olfactory scores, the AD participants were classified as Rapid Olfactory Progressors (ROP) (UPSIT ≤ 15) and Slow Olfactory Progressors correlating significantly with RCD/NRCD groups. The ROP group with higher olfactory impairment indicated more symptomatic illness or severity, i.e. lower cognition, higher functional dependence, and presence of behavioral symptoms. Conclusions: Our study supports association of smell identification function with cognition and its utility as an adjunct clinical measure to assess severity in AD. Further work, including larger longitudinal studies, is needed to explore its value in predicting AD progression.
MeSH term(s)	Activities of Daily Living ; Aged ; Aged, 80 and over ; Alzheimer Disease/diagnosis ; Alzheimer Disease/drug therapy ; Alzheimer Disease/physiopathology ; Alzheimer Disease/psychology ; Biomarkers/analysis ; Case-Control Studies ; Cholinesterase Inhibitors/therapeutic use ; Cognition ; Disease Progression ; Female ; Humans ; Male ; Mental Status Schedule ; Neuropsychological Tests ; Olfaction Disorders/drug therapy ; Olfaction Disorders/etiology ; Olfaction Disorders/physiopathology ; Severity of Illness Index ; Smell ; Socioeconomic Factors
Chemical Substances	Biomarkers ; Cholinesterase Inhibitors
Language	English
Publishing date	2013-07
Publishing country	England
Document type	Evaluation Studies ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1038825-4
ISSN	1741-203X ; 1041-6102
ISSN (online)	1741-203X
ISSN	1041-6102
DOI	10.1017/S1041610213000446
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Zs.A 2621: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 513: Show issues

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Article ; Online: Complement activation as a biomarker for Alzheimer's disease.

Aiyaz, Mohammed / Lupton, Michelle K / Proitsi, Petroula / Powell, John F / Lovestone, Simon

Immunobiology

2012 Volume 217, Issue 2, Page(s) 204–215

Abstract: There is increasing evidence from genetic, immunohistochemical, proteomic and epidemiological studies as well as in model systems that complement activation has an important role in the pathogenesis of Alzheimer's disease (AD). The complement cascade is ... ...

Abstract	There is increasing evidence from genetic, immunohistochemical, proteomic and epidemiological studies as well as in model systems that complement activation has an important role in the pathogenesis of Alzheimer's disease (AD). The complement cascade is an essential element of the innate immune response. In the brain complement proteins are integral components of amyloid plaques and complement activation occurs at the earliest stage of the disease. The complement cascade has been implicated as a protective mechanism in the clearance of amyloid, and in a causal role through chronic activation of the inflammatory response. In this review we discuss the potential for complement activation to act as a biomarker for AD at several stages in the disease process. An accurate biomarker that has sufficient predictive, diagnostic and prognostic value would provide a significant opportunity to develop and test for effective novel therapies in the treatment of AD.
MeSH term(s)	Alzheimer Disease/genetics ; Alzheimer Disease/immunology ; Alzheimer Disease/pathology ; Amyloid/immunology ; Biomarkers ; Complement Activation/immunology ; Complement System Proteins/genetics ; Complement System Proteins/immunology ; Humans ; Macular Degeneration/immunology ; Plaque, Amyloid/pathology
Chemical Substances	Amyloid ; Biomarkers ; Complement System Proteins (9007-36-7)
Language	English
Publishing date	2012-02
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	563292-4
ISSN	1878-3279 ; 0171-2985
ISSN (online)	1878-3279
ISSN	0171-2985
DOI	10.1016/j.imbio.2011.07.023
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Article ; Online: Telomere length is greater in ALS than in controls: a whole genome sequencing study.

Al Khleifat, Ahmad / Iacoangeli, Alfredo / Shatunov, Aleksey / Fang, Ton / Sproviero, William / Jones, Ashley R / Opie-Martin, Sarah / Morrison, Karen E / Shaw, Pamela J / Shaw, Christopher E / Powell, John F / Dobson, Richard / Newhouse, Steven J / Al-Chalabi, Ammar

Amyotrophic lateral sclerosis & frontotemporal degeneration

2019 Volume 20, Issue 3-4, Page(s) 229–234

Abstract: Background: ...

Abstract	Background:
MeSH term(s)	Age of Onset ; Aged ; Amyotrophic Lateral Sclerosis/genetics ; Amyotrophic Lateral Sclerosis/pathology ; Case-Control Studies ; Computational Biology ; DNA/chemistry ; Female ; Genetic Variation ; Humans ; Introns/genetics ; Leukocytes/chemistry ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Survival Analysis ; Telomere/genetics ; Telomere/ultrastructure ; Whole Genome Sequencing
Chemical Substances	DNA (9007-49-2)
Language	English
Publishing date	2019-04-01
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2705049-X
ISSN	2167-9223 ; 2167-8421
ISSN (online)	2167-9223
ISSN	2167-8421
DOI	10.1080/21678421.2019.1586951
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Zs.A 5874: Show issues

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Article ; Online: The role of ABCA1 gene sequence variants on risk of Alzheimer's disease.

Lupton, Michelle K / Proitsi, Petroula / Lin, Kuang / Hamilton, Gillian / Daniilidou, Makrina / Tsolaki, Magda / Powell, John F

Journal of Alzheimer's disease : JAD

2014 Volume 38, Issue 4, Page(s) 897–906

Abstract: The ATP-binding cassette, sub-family A, member 1 gene (ABCA1) is a candidate risk gene for late onset Alzheimer's disease (LOAD) as a consequence of its role in cholesterol transport and metabolism, which is implicated in LOAD risk. ABCA1 has been shown ... ...

Abstract	The ATP-binding cassette, sub-family A, member 1 gene (ABCA1) is a candidate risk gene for late onset Alzheimer's disease (LOAD) as a consequence of its role in cholesterol transport and metabolism, which is implicated in LOAD risk. ABCA1 has been shown in mouse models to enable the clearance of amyloid-β peptide from the brain, through its role in the lipidation of apolipoprotein (APOE). Although recent large scale genome wide association studies (GWAS) have failed to find significant associations with common genetic variants in this gene and LOAD, rare variants in ABCA1 have been shown to influence plasma high-density lipoprotein cholesterol levels. Using next generation sequencing of pooled DNA samples, we sequenced all the coding regions of ABCA1 in 311 LOAD cases and 360 control individuals drawn from the Greek population to identify low frequency non-synonymous variation. There were a significantly higher proportion of rare non-synonymous variants in control individuals compared to AD cases, suggestive of a protective effect. These findings provide new evidence of an effect of ABCA1 variants on AD risk. In addition they highlight the importance of high throughput sequencing in the identification of rare variation undetected by GWAS, but with the potential to have a strong effect on risk of LOAD.
MeSH term(s)	ATP Binding Cassette Transporter 1/genetics ; Adult ; Aged ; Aged, 80 and over ; Alzheimer Disease/diagnosis ; Alzheimer Disease/genetics ; Case-Control Studies ; Cohort Studies ; Female ; Genetic Variation/genetics ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide/genetics ; Risk Factors ; Sequence Analysis, DNA/methods
Chemical Substances	ABCA1 protein, human ; ATP Binding Cassette Transporter 1
Language	English
Publishing date	2014
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1440127-7
ISSN	1875-8908 ; 1387-2877
ISSN (online)	1875-8908
ISSN	1387-2877
DOI	10.3233/JAD-131121
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