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Article
Open AccessMAPT subhaplotypes in corticobasal degeneration: assessing associations with disease risk, severity of tau pathology, and clinical features
The microtubule-associated protein tau (MAPT) H1 haplotype is the strongest genetic risk factor for corticobasal degeneration (CBD). However, the specific H1 subhaplotype association is not well defined, and it i...
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Article
Open AccessAssociation of ABI3 and PLCG2 missense variants with disease risk and neuropathology in Lewy body disease and progressive supranuclear palsy
Missense variants ABI3_rs616338-T and PLCG2_rs72824905-G were previously associated with elevated or reduced risk of Alzheimer’s disease (AD), respectively. Despite reports of associations with other neurodegener...
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Article
Open AccessAssociations of mitochondrial genomic variation with corticobasal degeneration, progressive supranuclear palsy, and neuropathological tau measures
Mitochondrial health is important in ageing and dysfunctional oxidative phosphorylation (OXPHOS) accelerates ageing and influences neurodegeneration. Mitochondrial DNA (mtDNA) codes for vital OXPHOS subunits a...
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Article
Open AccessCorrection to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity
The IPDGC (The International Parkinson Disease Genomics Consortium) and EADB (Alzheimer Disease European DNA biobank) are listed correctly as an author to the article, however, they were incorrectly listed mor...
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Article
Open AccessTargeted next-generation sequencing identifies novel variants in candidate genes for Parkinson’s disease in Black South African and Nigerian patients
The prevalence of Parkinson’s disease (PD) is increasing in sub-Saharan Africa, but little is known about the genetics of PD in these populations. Due to their unique ancestry and diversity, sub-Saharan Africa...
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Article
Open AccessAnalysis of neurodegenerative disease-causing genes in dementia with Lewy bodies
Dementia with Lewy bodies (DLB) is a clinically heterogeneous disorder with a substantial burden on healthcare. Despite this, the genetic basis of the disorder is not well defined and its boundaries with other...
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Article
Open AccessA nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity
The genetic variant rs72824905-G (minor allele) in the PLCG2 gene was previously associated with a reduced Alzheimer’s disease risk (AD). The role of PLCG2 in immune system signaling suggests it may also protect ...
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Article
Open AccessSystematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight
The human genome contains “dark” gene regions that cannot be adequately assembled or aligned using standard short-read sequencing technologies, preventing researchers from identifying mutations within these ge...
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Reference Work Entry In depth
Cytokine Expression and Production Changes in Very Old Age
The immune system is a dynamic whole system network that, as a result of the interaction between genes, lifestyle and environment, is constantly remodeling itself throughout our lifespan. The immune response i...
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Reference Work Entry In depth
Cytokine Polymorphisms, Immunosenescence, and Neurodegeneration
The influence of genetics on immunosenescence (age-associated immune deficiency) remains to be resolved. Common genetic variation (polymorphism) that resides within the genes encoding cytokines is an important...
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Article
Open AccessSex and age interact to determine clinicopathologic differences in Alzheimer’s disease
Women reportedly make up two-thirds of Alzheimer’s disease (AD) dementia sufferers. Many estimates regarding AD, however, are based on clinical series lacking autopsy confirmation. The Florida Autopsied Multi-...
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Article
Open AccessAPOE ε2 is associated with increased tau pathology in primary tauopathy
Apolipoprotein E (APOE) ε4 allele is the strongest genetic risk factor for late-onset Alzheimer’s disease mainly by modulating amyloid-β pathology. APOE ε4 is also shown to exacerbate neurodegeneration and neuroi...
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Article
Open AccessABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans
Rare coding variants ABI3_rs616338-T and PLCG2_rs72824905-G were identified as risk or protective factors, respectively, for Alzheimer’s disease (AD).
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Article
Corticobasal degeneration with TDP-43 pathology presenting with progressive supranuclear palsy syndrome: a distinct clinicopathologic subtype
Corticobasal degeneration (CBD) is a clinically heterogeneous tauopathy, which has overlap** clinicopathologic and genetic characteristics with progressive supranuclear palsy (PSP). This study aimed to eluci...
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Article
Open AccessReplication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci
Progressive supranuclear palsy (PSP) is a parkinsonian neurodegenerative tauopathy affecting brain regions involved in motor function, including the basal ganglia, diencephalon and brainstem. While PSP is larg...
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Article
Open AccessIdentification of missing variants by combining multiple analytic pipelines
After decades of identifying risk factors using array-based genome-wide association studies (GWAS), genetic research of complex diseases has shifted to sequencing-based rare variants discovery. This requires l...
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Reference Work Entry In depth
Parkin
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Living Reference Work Entry In depth
Cytokine Polymorphisms, Immunosenescence, and Neurodegeneration
The influence of genetics on immunosenescence (age-associated immune deficiency) remains to be resolved. Common genetic variation (polymorphism) that resides within the genes encoding cytokines is an important...
-
Living Reference Work Entry In depth
Cytokine Expression and Production Changes in Very Old Age
The immune system is a dynamic whole system network that, as a result of the interaction between genes, lifestyle and environment, is constantly remodeling itself throughout our lifespan. The immune response i...
-
Article
Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia
Corticobasal degeneration (CBD), progressive supranuclear palsy (PSP) and a subset of frontotemporal dementia (FTD) are neurodegenerative disorders characterized by tau inclusions in neurons and glia (tauopath...
