ArticleJournal of neurology, neurosurgery, and psychiatry2012
An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology.
Article in Journal of neurology, neurosurgery, and psychiatry, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- The associations between the MAPT polymorphisms and Alzheimer's disease risk: a meta-analysis.Oncotarget · 2017Pooled it
- Where do PDD and DLB SYNdromes fit in neuronal alpha-SYNuclein biological frameworks?Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Disproportionately Enlarged Subarachnoid-Space Hydrocephalus on MRI in Pathologically Confirmed Progressive Supranuclear Palsy.Neurology. Clinical practice · 2025Article
- Tau and MAPT genetics in tauopathies and synucleinopathies.Parkinsonism & related disorders · 2021Review
- iPS Cell-Based Model forFrontiers in cell and developmental biology · 2021Article
- Evolution of Alzheimer's Disease Cerebrospinal Fluid Biomarkers in Early Parkinson's Disease.Annals of neurology · 2020Observational
- Pathological Influences on Clinical Heterogeneity in Lewy Body Diseases.Movement disorders : official journal of the Movement Disorder Society · 2020Review
- APOE ɛ4/ɛ4 Is Associated with Aberrant Motor Behavior Through Both Lewy Body and Cerebral Amyloid Angiopathy Pathology in High Alzheimer's Disease Pathological Load.Journal of Alzheimer's disease : JAD · 2019Article
- Dementia with Lewy bodies and Parkinson's disease-dementia: current concepts and controversies.Journal of neural transmission (Vienna, Austria : 1996) · 2018Review
- Parkinson's disease susceptibility variants and severity of Lewy body pathology.Parkinsonism & related disorders · 2017Article
- Role of Apolipoproteins and α-Synuclein in Parkinson's Disease.Journal of molecular neuroscience : MN · 2017Review
- Distribution and characteristics of transactive response DNA binding protein 43 kDa pathology in progressive supranuclear palsy.Movement disorders : official journal of the Movement Disorder Society · 2017Article
- Interactions Between α-Synuclein and Tau Protein: Implications to Neurodegenerative Disorders.Journal of molecular neuroscience : MN · 2016Review
- The effect of MAPT haplotype on neocortical Lewy body pathology in Parkinson disease.Journal of neural transmission (Vienna, Austria : 1996) · 2016Article
- Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP-C.Movement disorders : official journal of the Movement Disorder Society · 2016Article
- The Genetic Basis of Cognitive Impairment and Dementia in Parkinson's Disease.Frontiers in psychiatry · 2016Review
- Genetic Architecture of MAPT Gene Region in Parkinson Disease Subtypes.Frontiers in cellular neuroscience · 2016Article
- Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders.Neurology · 2015Article
- Article
- Regulation of human MAPT gene expression.Molecular neurodegeneration · 2015Review
Corrections and comments
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Authors and funding
16 authors at 4 institutions in 2 countries.
Funding
Abstract
purposeThe study investigates the effects of genetic factors on the pathology of Alzheimer's disease (AD) and Lewy body (LB) diseases, including Parkinson's disease and dementia with Lewy bodies.
methodsA multicentre autopsy series (762 brain samples) with AD, LB or vascular pathology was examined. The effects of the tau gene (MAPT) H1 haplotype, the H1 specific SNP rs242557, APOE and the α-synuclein gene (SNCA) 3'UTR SNP rs356165 on the burden of AD and LB pathology were assessed. Neurofibrillary tangles (NFTs) were counted in four brain regions, senile plaques in five and LBs in four. Braak NFT stage, brain weight and presence of vascular pathology were also documented.
resultsMAPT H1 associated with lower counts of NFTs in the middle frontal (p<0.001) and inferior parietal (p=0.005) cortices, and also with lower counts of senile plaques in the motor cortex (p=0.001). Associations of MAPT H1 with increased LB counts in the middle frontal cortex (p=0.011) and inferior parietal cortex (p=0.033) were observed but were not significant after multiple testing adjustment. The APOE ε4 allele was strongly associated with overall Alzheimer type pathology (all p≤0.001). SNCA rs356165 and the MAPT H1 specific SNP rs242557 did not associate with AD or LB pathology.
conclusionThis study shows for the first time that MAPT H1 is associated with reduced Alzheimer type pathology which could have important implications for the understanding of disease mechanisms and their genetic determinants.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.