Research Topics
Genomes and Genes | Nigel J CairnsSummaryAffiliation: Washington University School of Medicine Country: USA Publications
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Publications
Amyloid imaging of Lewy body-associated disordersErin R Foster
Department of Neurology, Washington University School of Medicine, St Louis, MO, USA
Mov Disord 25:2516-23. 2010..Amyloid-β may modify the severity of global cognitive impairment in individuals with Lewy body-associated dementia...- Pregnancy in multiple system atrophy: a case reportLirong Zhu
Department of Neurology, Washington University School of Medicine, St Louis, MO 63110, USA
J Med Case Reports 5:599. 2011..abstract:.. - Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTDParastoo Momeni
Laboratory of Neurogenetics, National Institute of Aging, NIH, Bethesda, MD, USA
BMC Neurol 6:44. 2006..A new locus for amyotrophic lateral sclerosis--frontotemporal dementia (ALS-FTD) has recently been ascribed to chromosome 9p... - TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusionsNigel J Cairns
MRCPath, Department of Pathology and Immunology, Washington University School of Medicine, Campus Box 8118, St Louis, MO 63110, USA
Am J Pathol 171:227-40. 2007.... - Autopsy consent, brain collection, and standardized neuropathologic assessment of ADNI participants: the essential role of the neuropathology coreNigel J Cairns
Alzheimer s Disease Research Center, Washington University School of Medicine, St Louis, MO 63110, USA
Alzheimers Dement 6:274-9. 2010.... - Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar DegenerationNigel J Cairns
Department of Neurology, Washington University School of Medicine, Campus Box 8118, 660 South Euclid Avenue, St Louis, MO, 63110, USA
Acta Neuropathol 114:5-22. 2007..These criteria will be of value to the practicing neuropathologist and provide a foundation for clinical, clinico-pathologic, mechanistic studies and in vivo models of pathogenesis of FTLD... - Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementiaOdity Mukherjee
Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri 63110, USA
Hum Mutat 29:512-21. 2008.... - TDP-43 A315T mutation in familial motor neuron diseaseMichael A Gitcho
Alzheimer s Disease Research Center, Washington University School of Medicine, St Louis, MO 63110, USA
Ann Neurol 63:535-8. 2008..The discovery of a missense mutation in TDP-43 in a family with dominantly inherited motor neuron disease provides evidence of a direct link between altered TDP-43 function and neurodegeneration... - TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathyMichael A Gitcho
Alzheimer s Disease Research Center, Washington University School of Medicine, St Louis, MO 63110, USA
Acta Neuropathol 118:633-45. 2009..In summary, TARDBP variants may result in clinically and neuropathologically heterogeneous phenotypes linked by a common molecular pathology called TDP-43 proteinopathy... - Clinical and biomarker changes in dominantly inherited Alzheimer's diseaseRandall J Bateman
Washington University School of Medicine, Department of Neurology, 660 S Euclid Ave, Box 8111, St Louis, MO 63110, USA
N Engl J Med 367:795-804. 2012..Autosomal dominant Alzheimer's disease has a predictable age at onset and provides an opportunity to determine the sequence and magnitude of pathologic changes that culminate in symptomatic disease... - Visinin-like protein-1: diagnostic and prognostic biomarker in Alzheimer diseaseRawan Tarawneh
Department of Neurology, Washington University School of Medicine, St Louis, MO 63110, USA
Ann Neurol 70:274-85. 2011..Visinin-like protein-1 (VILIP-1) has demonstrated potential utility as a marker of neuronal injury. Here we investigate CSF VILIP-1 and VILIP-1/amyloid-β42 (Aβ42) ratio as diagnostic and prognostic markers in early AD... 
Pathologic accumulation of α-synuclein and Aβ in Parkinson disease patients with dementiaPaul T Kotzbauer
Hope Center for Neurological Disorders, Washington University School of Medicine, St Louis, MO 63110, USA
Arch Neurol 69:1326-31. 2012..To determine the relative contributions of individual pathologic protein deposits associated with dementia in patients with Parkinson disease (PD)...- VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell deathMichael A Gitcho
Alzheimer s Disease Research Center and the Department of Neurology, Washington University School of Medicine, St Louis, Missouri 63110, USA
J Biol Chem 284:12384-98. 2009..These results suggest that VCP mutation-induced neurodegeneration is mediated by several mechanisms... - Clinical and psychometric distinction of frontotemporal and Alzheimer dementiasRajka M Liscic
Alzheimer s Disease Research Center, Washington University School of Medicine, St Louis, MO 63108, USA
Arch Neurol 64:535-40. 2007..Thus, the clinical phenotypes of the 2 disorders may overlap... - Absence of Pittsburgh compound B detection of cerebral amyloid beta in a patient with clinical, cognitive, and cerebrospinal fluid markers of Alzheimer disease: a case reportNigel J Cairns
Alzheimer s Disease Research Center, Washington University, St Louis, Missouri 63108, USA
Arch Neurol 66:1557-62. 2009.... - YKL-40: a novel prognostic fluid biomarker for preclinical Alzheimer's diseaseRebecca Craig-Schapiro
Department of Neurology, Washington University School of Medicine, St Louis, Missouri 63110, USA
Biol Psychiatry 68:903-12. 2010..Therefore, biomarkers that detect AD pathology in its early stages and predict dementia onset and progression will be invaluable for patient care and efficient clinical trial design... - Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutationMaria I Behrens
Alzheimer s Disease Research Center, Department of Pathology and Immunology, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA
Alzheimer Dis Assoc Disord 21:1-7. 2007..5913 A>G (IVS6-2 A>G) segregating with FTLD-U in this kindred. In conclusion, HDDD1 is an FTLD-U caused by a PGRN mutation and is neuropathologically heterogeneous with Alzheimer disease as a common comorbidity... - Amyloid-beta oligomerization in Alzheimer dementia versus high-pathology controlsThomas J Esparza
Department of Neurology, Washington University School of Medicine, St Louis, MO
Ann Neurol 73:104-19. 2013..However, the lack of a sensitive, specific, and quantitative assay for Aβ oligomers has hampered rigorous tests of this hypothesis... - TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degenerationIga Wegorzewska
Department of Neurology and Hope Center for Neurological Diseases, Washington University School of Medicine, St Louis, MO 63110, USA
Proc Natl Acad Sci U S A 106:18809-14. 2009.... 
Identification and validation of novel CSF biomarkers for early stages of Alzheimer's diseaseYan Hu
Department of Neurology, Washington University School of Medicine, St Louis, MO, USA
Proteomics Clin Appl 1:1373-84. 2007..Our findings provide novel biomarker candidates for very mild and mild AD that can be further assessed as antecedent markers and predictors of clinical progression...- Interaction of neuritic plaques and education predicts dementiaCatherine M Roe
Alzheimer s Disease Research Center, Washington University School of Medicine, 4488 Forest Park Avenue, St Louis, MO 63108, USA
Alzheimer Dis Assoc Disord 22:188-93. 2008..Among individuals with Alzheimer disease neuropathology, educational attainment, as a surrogate of cognitive reserve, modifies the influence of neuritic, but not diffuse, plaque neuropathology on the expression of dementia... - HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulinOdity Mukherjee
Washington University Alzheimer s Disease Research Center, Washington University School of Medicine, St Louis, MO 63110, USA
Ann Neurol 60:314-22. 2006.... - Dopamine D1, D2, D3 receptors, vesicular monoamine transporter type-2 (VMAT2) and dopamine transporter (DAT) densities in aged human brainJianjun Sun
Department of Radiology, Washington University School of Medicine, St Louis, Missouri, United States of America
PLoS ONE 7:e49483. 2012.... - Nuclear Carrier and RNA Binding Proteins in Frontotemporal Lobar Degeneration associated with Fused in Sarcoma (FUS) pathological changesYvonne S Davidson
Mental Health and Neurodegeneration Research Group, Faculty of Human and Medical Sciences, University of Manchester, Manchester, UK Northwestern CNADC Neuropathology Core, Northwestern University Feinberg School of Medicine, Chicago, USA Department of Neuropathology, Walton Centre for Neurology and Neurosurgery, Liverpool, UK Neuropathology Cellular Pathology, Royal Victoria Infirmary, Newcastle upon Tyne, UK Institute for Ageing and Health, Campus for Ageing and Vitality, Newcastle University, Newcastle upon Tyne, UK Departments of Neurology and Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri 63110, USA Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal Foundation Trust, UK
Neuropathol Appl Neurobiol . 2012..2012 The Authors. Neuropathology and Applied Neurobiology © 2012 British Neuropathological Society... - TAR DNA-binding protein 43 immunohistochemistry reveals extensive neuritic pathology in FTLD-U: a midwest-southwest consortium for FTLD studyKimmo J Hatanpaa
Department of Pathology, University of Texas Southwestern School of Medicine, Dallas, Texas 75390, USA
J Neuropathol Exp Neurol 67:271-9. 2008..Moreover, assessment of abnormalities in both the hippocampus and frontal cortex may be diagnostically important in FTLD-U... - Letter to the editorNigel J Cairns
J Neuropathol Exp Neurol 65:97; author reply 97-8. 2006 - Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutationsIan R A Mackenzie
Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada
Ann Neurol 61:427-34. 2007..We recently identified TDP-43 as the major pathological protein in sporadic ALS. In this study, we investigated TDP-43 in a larger series of ALS cases (n = 111), including familial cases with and without SOD1 mutations... - TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutationsManuela Neumann
Center for Neuropathology and Prion Research, Ludwig Maximilians University, Munich, Germany
J Neuropathol Exp Neurol 66:152-7. 2007..TDP-43 is a common pathologic substrate linking a variety of distinct patterns of FTLD-U pathology caused by different genetic alterations... - Beta-secretase (BACE) and GSK-3 mRNA levels in Alzheimer's diseasePaul Preece
Quantuum, Departamento de Neurologia, Rua das Branas 7 Bajo D, Mera, La Coruna, Galicia 15177, Spain
Brain Res Mol Brain Res 116:155-8. 2003..Levels of mRNA were quantified for BACE and GSK 3 with TaqMan real-time RT-PCR. We found no change in the Alzheimer's disease brains relative to controls for either the BACE or the GSK 3alpha mRNA levels... - Human brain nucleoside diphosphate kinase activity is decreased in Alzheimer's disease and Down syndromeSeong Hwan Kim
Department of Pediatrics, University of Vienna, Waehringer Guertel 18, AT 1090 Vienna, Austria
Biochem Biophys Res Commun 296:970-5. 2002..We propose that oxidative modification of NDPK could lead to the decreased activity of NDPK and, subsequently, influence several neuronal functions in neurodegenerative diseases as multifunctional enzyme through several mechanisms... - Quantifying mRNA in postmortem human brain: influence of gender, age at death, postmortem interval, brain pH, agonal state and inter-lobe mRNA variancePaul Preece
Seixo Branco, Rua das Branas 7 Bajo D, 15177 Mera, A Coruna, Galicia, Spain
Brain Res Mol Brain Res 118:60-71. 2003..Given that gender, age at death and brain pH all have significant effects upon mRNA levels it is recommended that these factors be taken into account when quantifying gene expression in postmortem human brain... - No evidence for an association between Saitohin Q7R polymorphism and Alzheimer's diseaseLynnette Cook
Ann Neurol 52:690-1. 2002 - Tumour necrosis factor-alpha gene polymorphisms and Alzheimer's diseaseDoris Culpan
Department of Care of the Elderly, University of Bristol, John James Buildings, Frenchay Hospital, Frenchay, Bristol, BS16 1LE, UK
Neurosci Lett 350:61-5. 2003..014, Fisher's exact test) suggesting that the 2-1-2 haplotype may be protective against AD... - Are pathological lesions in neurodegenerative disorders the cause or the effect of the degeneration?Richard A Armstrong
Vision Sciences, Aston University, Birmingham, United Kingdom
Neuropathology 22:133-46. 2002..Such a conclusion has implications both for the classification of neurodegenerative disorders and for studies of disease pathogenesis... - An optimistic view for quantifying mRNA in post-mortem human brainPaul Preece
Quantuum, Departamento de Neurologia, Rua das Branas 7 Bajo D, 15177 Mera, A Coruna, Galicia, Spain
Brain Res Mol Brain Res 116:7-16. 2003..Although levels of mRNA are highly variable between subjects (>1000-fold), quantitative order is present in post-mortem human mRNA, allowing effects due to pathology or gender to be isolated and tested for significance... - Patients with a novel neurofilamentopathy: dementia with neurofilament inclusionsNigel J Cairns
Center for Neurodegenerative Disease Research, University of Pennsylvania School of Medicine, Philadelphia 19104 4283, USA
Neurosci Lett 341:177-80. 2003.... - Haplotypes extending across ACE are associated with Alzheimer's diseasePatrick G Kehoe
Department of Care of the Elderly, University of Bristol, The John James Building, Frenchay Hospital, Bristol, UK
Hum Mol Genet 12:859-67. 2003..Results support a model whereby decreased ACE activity may influence AD susceptibility by a mechanism involving beta-amyloid metabolism... - Common variants of ACE contribute to variable age-at-onset of Alzheimer's diseasePatrick G Kehoe
Department of Care of the Elderly, The John James Building, Frenchay Hospital, University of Bristol, UK
Hum Genet 114:478-83. 2004..These results provide an important complement to existing AD risk data, confirming that ACE harbors sequence variants that contribute to aspects of AD pathology... - Amyloid precursor protein mRNA levels in Alzheimer's disease brainPaul Preece
Seixo Branco, Departamento de Neurologia, Rua das Branas 7 Bajo D, Mera, 15177 Oleiros, La Coruna, Galicia, Spain
Brain Res Mol Brain Res 122:1-9. 2004..002). There was no change in the mRNA levels of KPI-(APP 695) (p=0.898). Therefore, whilst KPI-mRNA levels remained stable the KPI(+) species increased specifically in the AD brains... - Expression of cellular prion protein in the frontal and occipital lobe in Alzheimer's disease, diffuse Lewy body disease, and in normal brain: an immunohistochemical studyPayam Rezaie
Department of Biological Sciences, Faculty of Science, The Open University, Walton Hall, Milton Keynes MK7 6AA, United Kingdom
J Histochem Cytochem 53:929-40. 2005..In conclusion, this study supports the proposal that regional changes in expression of PrP(c) may occur in certain neurodegenerative disorders such as AD, but not in other disorders such as DLBD... - Sequence variants of IDE are associated with the extent of beta-amyloid deposition in the Alzheimer's disease brainMia E L Blomqvist
Center for Genomics and Bioinformatics, Karolinska Institute, Stockholm, Sweden
Neurobiol Aging 26:795-802. 2005..Results indicate that alleles of IDE contribute to variability in A beta deposition in the AD brain and suggest that this relationship may have relevance for the degree of cognitive dysfunction in AD patients... - Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutationsMark S Forman
Department of Pathology, University of Pennsylvania School of Medicine, Philadelphia, 19104, USA
J Neuropathol Exp Neurol 65:571-81. 2006..Our findings are consistent with the hypothesis that the pathology associated with VCP gene mutations is the result of impairment of ubiquitin-based degradation pathways... - Spatial topography of the neurofibrillary tangles in cortical and subcortical regions in progressive supranuclear palsyRichard A Armstrong
Vision Sciences, Aston University, Birmingham B4 7ET, UK
Parkinsonism Relat Disord 13:50-4. 2007..To study the topography of neurofibrillary tangles (NFT) in cortical and subcortical areas in progressive supranuclear palsy (PSP)... - Candidate gene association studies of genes involved in neuronal cholinergic transmission in Alzheimer's disease suggests choline acetyltransferase as a candidate deserving further studyLynnette J Cook
Department of Medical Genetics, Cambridge Institute for Medical Research, Addenbrooke s Hospital, Hills Road, Cambridge, CB2 2XY, UK
Am J Med Genet B Neuropsychiatr Genet 132:5-8. 2005..Replication analyses of these two loci failed to detect any significant association for disease in our case-control samples... - Candidate gene association study of solute carrier family 11a members 1 (SLC11A1) and 2 (SLC11A2) genes in Alzheimer's diseaseSarra E Jamieson
Cambridge Institute for Medical Research, University of Cambridge School of Clinical Medicine, Wellcome Trust MRC Building, Addenbrooke s Hospital, Hills Rd, Cambridge CB2 2XY, UK
Neurosci Lett 374:124-8. 2005..No other associations with AD were observed at SLC11A1 or SLC11A2, indicating no major effect of either gene for the occurrence of AD... - Shortfalls in the peptidyl-prolyl cis-trans isomerase protein Pin1 in neurons are associated with frontotemporal dementiasJulian R Thorpe
Electron Microscope Division, The Sussex Centre for Advanced Microscopy, School of Life Sciences, University of Sussex, Brighton, UK
Neurobiol Dis 17:237-49. 2004..This may be a unifying, contributory factor towards neuronal death in these dementias... - alpha-internexin is present in the pathological inclusions of neuronal intermediate filament inclusion diseaseNigel J Cairns
Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 4283, USA
Am J Pathol 164:2153-61. 2004..The discovery of alpha-internexin in the cytoplasmic inclusions implicates novel mechanisms of pathogenesis in NIFID and other neurological diseases with pathological accumulations of IFs... - Candidate gene association studies of the alpha 4 (CHRNA4) and beta 2 (CHRNB2) neuronal nicotinic acetylcholine receptor subunit genes in Alzheimer's diseaseLynnette J Cook
Department of Medical Genetics, Cambridge Institute for Medical Research, Addenbrooke s Hospital, Hills Road, Cambridge CB2 2XY, UK
Neurosci Lett 358:142-6. 2004..70, 95% confidence interval=0.52-0.95, P=0.019). These data suggest that this variant warrants further examination in large case-control series... - Evidence that common variation in NEDD9 is associated with susceptibility to late-onset Alzheimer's and Parkinson's diseaseYonghong Li
Celera, 1401 Harbor Bay Parkway, Alameda, CA 94502, USA
Hum Mol Genet 17:759-67. 2008..These data implicate NEDD9 as a novel susceptibility gene for LOAD and possibly PD... - Genetic variants of ABCA1 modify Alzheimer disease risk and quantitative traits related to beta-amyloid metabolismHagit Katzov
Center for Genomics and Bioinformatics, Karolinska Institute, Stockholm, Sweden
Hum Mutat 23:358-67. 2004..Results indicate that variants of ABCA1 may affect the risk of AD, providing further support for a genetic link between AD and cholesterol metabolism... - What determines the molecular composition of abnormal protein aggregates in neurodegenerative disease?Richard A Armstrong
Vision Sciences, Aston University, Birmingham, UK
Neuropathology 28:351-65. 2008..These findings are discussed in relation to diagnosis and to studies of to disease pathogenesis... - Aberrant accentuation of neurofibrillary degeneration in the hippocampus of Alzheimer's disease with amyloid precursor protein 717 and presenilin-1 gene mutationsSatoru Sudo
Department of Neuropsychiatry, Faculty of Medical Sciences, University of Fukui, 23 Shimoaizuki, Matsuoka cho, Fukui 910 1193, Japan
J Neurol Sci 234:55-65. 2005..Thus, APP and PS-1 mutations predominantly affect the CA regions with profound neurodegeneration, which contributes early and severe clinical features of familial AD...