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Genomes and Genes | J CollingeSummaryAffiliation: Imperial College Country: UK Publications
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Publications
The same prion strain causes vCJD and BSEA F Hill
Nature 389:448-50, 526. 1997- Human prion diseases and bovine spongiform encephalopathy (BSE)J Collinge
Prion Disease Group, Neurogenetics Unit, Imperial College School of Medicine at St Mary s, London, UK
Hum Mol Genet 6:1699-705. 1997..Such molecular analysis of prion strains suggests that new variant Creutzfeldt-Jakob disease is caused by BSE exposure. The novel biology of prion propagation may not be unique to these rare degenerative brain diseases... - Molecular analysis of prion strain variation and the aetiology of 'new variant' CJDJ Collinge
Neurogenetics Unit, Department of Biochemistry and Molecular Genetics, Imperial College School of Medicine at St Mary s, London, UK
Nature 383:685-90. 1996..Strain characteristics revealed here suggest that the prion protein may itself encode disease phenotype... - Prion diseases of humans and animals: their causes and molecular basisJ Collinge
MRC Prion Unit and Department of Neurogenetics, Imperial College School of Medicine at St Mary s, London, United Kingdom
Annu Rev Neurosci 24:519-50. 2001..It is unclear if a large epidemic of variant CJD will occur in the years ahead... - Variant Creutzfeldt-Jakob diseaseJ Collinge
Department of Neurogenetics, Imperial College School of Medicine at St Mary s, London, UK
Lancet 354:317-23. 1999..The theoretical possibility that BSE prions might have transferred to other species and continue to present a risk to human health cannot be excluded at present... - Early onset familial Alzheimer's disease: Mutation frequency in 31 familiesJ C Janssen
Dementia Research Group, Department of Clinical Neurology, Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK
Neurology 60:235-9. 2003..There may be a further genetic factor involved in the etiology of autosomal dominant early onset AD... - Inherited prion disease with 5-OPRI: phenotype modification by repeat length and codon 129S Mead
MRC Prion Unit and Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London, UK
Neurology 69:730-8. 2007..An individual inherited prion disease offers an opportunity to study the determinants of this clinicopathologic heterogeneity among individuals with the same causal mutation... 
Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international seriesT E F Webb
Department of Neurodegenerative Disease and MRC Prion Unit, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
Brain 131:2632-46. 2008..These data allow an appreciation of the range of clinical phenotype, modern imaging and molecular investigation and should inform genetic counselling of at-risk individuals, with the identification of two genetic modifiers...
Age of onset and death in inherited prion disease are heritableT E F Webb
MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
Am J Med Genet B Neuropsychiatr Genet 150:496-501. 2009....- Association of a null allele of SPRN with variant Creutzfeldt-Jakob diseaseJ A Beck
MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK
J Med Genet 45:813-7. 2008..The gene SPRN, encodes Shadoo (Sho, shadow of prion protein) which has protein homology and possible functional links with the prion protein... - A novel presenilin 1 deletion (p.L166del) associated with early onset familial Alzheimer's diseaseW D Knight
Dementia Research Centre, Institute of Neurology, University College London, London, UK
Eur J Neurol 14:829-31. 2007..They are, however, consistent with the reported clinical phenotype in the majority of PSEN1 exon 6 mutations so far reported... - The molecular biology of prion propagationA R Clarke
Medical Research Council Prion Unit, Department of Neurogenetics, Imperial College School of Medicine at St Mary's, London W2 1NY, UK
Philos Trans R Soc Lond B Biol Sci 356:185-95. 2001..These and other advances in the fundamental biology of prion propagation are leading to strategies for the development of rational therapeutics... - Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK. Mutations in brief no. 223. OnlineM S Palmer
Molecular Genetics, Biomedical Sciences Division, Imperial College School of Medicine, London, UK
Hum Mutat 13:256. 1999..I143F shows incomplete penetration within the affected family. P436S is the most carboxy-terminal presenilin 1 mutation reported to date... - A presenilin 1 R278I mutation presenting with language impairmentA K Godbolt
Dementia Research Centre, Department of Neurodegenerative Disease, Institute of Neurology, London, UK
Neurology 63:1702-4. 2004..Screening for PSEN1 mutations may be appropriate in cases of familial dementia even where the clinical phenotype is not typical of AD... - Prion protein is necessary for normal synaptic functionJ Collinge
Department of Biochemistry and Molecular Genetics, St Mary s Hospital Medical School, Imperial College, London, UK
Nature 370:295-7. 1994.... - Tissue distribution of protease resistant prion protein in variant Creutzfeldt-Jakob disease using a highly sensitive immunoblotting assayJ D Wadsworth
MRC Prion Unit and Department of Neurogenetics, Imperial College School of Medicine at St Mary s, Norfolk Place, W2 1PG, London, UK
Lancet 358:171-80. 2001..We aimed to improve immunoblotting methods for high sensitivity detection of PrP(Sc) to investigate the distribution of PrP(Sc) in a range of vCJD tissues... - Mossy fibre reorganization in the hippocampus of prion protein null miceS B Colling
Department of Physiology and Biophysics, Imperial College School of Medicine at St Mary s, London, UK
Brain Res 755:28-35. 1997..We propose that reorganization of neuronal circuity is a feature of PrP-null mice... - Familial Alzheimer's disease and inherited prion disease in the UK are poorly ascertainedJ C Stevens
Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK
J Neurol Neurosurg Psychiatry 82:1054-7. 2011..By comparison with frequencies predicted from published population studies, to estimate the proportion of patients with these conditions who are being accurately diagnosed... - The molecular pathology of CJD: old and new variantsG S Jackson
MRC Prion Unit, Department of Neurogenetics, Imperial College School of Medicine at St Mary s, Norfolk Place, Paddington, London W2 1NY, UK
Mol Pathol 54:393-9. 2001..Concomitantly, advances in the fundamental biology of prion disease have done much to reinforce the protein only hypothesis of prion replication... - Distinct neuropsychological profiles correspond to distribution of cortical thinning in inherited prion disease caused by insertional mutationK Alner
National Prion Clinic, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
J Neurol Neurosurg Psychiatry 83:109-14. 2012..Here we report for the first time the neuropsychological and clinical assessments in these two groups... - Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1S Mead
MRC Prion Unit and Department of Neurogenetics, Imperial College, St Mary s Hospital, London, United Kingdom
Am J Hum Genet 69:1225-35. 2001..In addition, there was no evidence of a PRNP founder effect in the first reported geographical cluster of vCJD... - Rescue of neurophysiological phenotype seen in PrP null mice by transgene encoding human prion proteinM A Whittington
Department of Physiology and Biophysics, St Mary s Hospital Medical School, Imperial College, London, UK
Nat Genet 9:197-201. 1995.... - Brain-water diffusion coefficients reflect the severity of inherited prion diseaseH Hyare
National Prion Clinic, Box 98, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK, WC1N 3BG
Neurology 74:658-65. 2010..We wished to assess the potential of diffusion-weighted MRI as a biomarker of disease severity in inherited prion diseases... - Hippocampal slices from prion protein null mice: disrupted Ca(2+)-activated K+ currentsS B Colling
Department of Physiology and Biophysics, St Mary s Hospital Medical School, Imperial College, London, UK
Neurosci Lett 209:49-52. 1996..The PrP-null group differed in having lower input resistances, a lack of the late AHP and of a charybdotoxin-sensitive summated AHP. We propose that CA(2+)-activated K+ currents, in particular IAHP, are disrupted in PrP-null mice... - Review: contribution of transgenic models to understanding human prion diseaseJ D F Wadsworth
MRC Prion Unit and Department of Neurodegenerative Disease, Institute of Neurology, University College London, National Hospital for Neurology and Neurosurgery, London, UK
Neuropathol Appl Neurobiol 36:576-97. 2010.... - Two-octapeptide repeat deletion of prion protein associated with rapidly progressive dementiaJ A Beck
MRC Prion Unit, Department of Neurogenetics, Imperial College School of Medicine at St. Mary's, London, UK
Neurology 57:354-6. 2001..This mutation was absent from more than 3,000 individuals and may be causally related to prion disease and represent a novel disease mechanism... - Phenotypic variability in the brains of a family with a prion disease characterized by a 144-base pair insertion in the prion protein geneA King
Department of Neuropathology, Institute of Psychiatry, Kings College London, London, UK
Neuropathol Appl Neurobiol 29:98-105. 2003..They also reveal that the relationship between PrP deposition and cerebral or cerebellar damage might be complex... - Isolation and functional characterisation of the promoter region of the human prion protein geneS P Mahal
MRC Prion Unit and Department of Neurogenetics, Imperial College School of Medicine at St. Mary's, W2 1PG, London, UK
Gene 268:105-14. 2001..7 kb genomic fragment driving a luciferase reporter gene, demonstrate an active promoter within a 273 bp region (-148 to +125, relative to the cap site)... - Mutations and polymorphisms in the prion protein geneM S Palmer
Department of Biochemistry and Molecular Genetics, St Mary s Hospital Medical School, Norfolk Place, London, UK
Hum Mutat 2:168-73. 1993..The identification of mutations in this gene has lead to a broadening of the spectrum of clinical phenotypes that can be classified as prion diseases and have provided an important tool in the diagnosis of familial dementias... - Molecular genetic characterisation of frontotemporal dementia on chromosome 3A Ashworth
Department of Neurogenetics, Imperial College School of Medicine at St Mary s, London, UK
Dement Geriatr Cogn Disord 10:93-101. 1999..We also outline our strategies to clone the mutant gene via its putative associated trinucleotide repeat sequence... - Regional brain metabolite abnormalities in inherited prion disease and asymptomatic gene carriers demonstrated in vivo by quantitative proton magnetic resonance spectroscopyA D Waldman
Dementia Research Group, Department of Neurodegenerative Disease, Institute of Neurology, University College London, Queen Square, London, WC1 3BG, UK
Neuroradiology 48:428-33. 2006.... - Identification of multiple quantitative trait loci linked to prion disease incubation period in miceS E Lloyd
Medical Research Council Prion Unit and Department of Neurogenetics, Imperial College School of Medicine at St Mary s, Norfolk Place, London W2 1PG, United Kingdom
Proc Natl Acad Sci U S A 98:6279-83. 2001..However, the demonstration of other major genetic effects on incubation period suggests the need for extreme caution in interpreting estimates of variant Creutzfeldt-Jakob disease epidemic size utilizing existing epidemiological models... - ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)N Parkinson
MRC Prion Unit, Institute of Neurology, University College London, London, UK
Neurology 67:1074-7. 2006..Neuropathology of the Q206H case showed lower motor neuron predominant disease with ubiquitylated inclusions in motor neurons. Antibodies to p62 (sequestosome 1) showed novel oligodendroglial inclusions in the motor cortex... - High-b-value diffusion MR imaging and basal nuclei apparent diffusion coefficient measurements in variant and sporadic Creutzfeldt-Jakob diseaseH Hyare
National Prion Clinic, National Hospital for Neurology and Neurosurgery, London, United Kingdom
AJNR Am J Neuroradiol 31:521-6. 2010.... - PRION-1 scales analysis supports use of functional outcome measures in prion diseaseS Mead
MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, and National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCLH NHS Trust, Queen Square, London, UK
Neurology 77:1674-83. 2011..Although there are several limitations to the usefulness of survival as an outcome measure, there have been no comprehensive studies of alternatives... - Prion disease--the propagation of infectious protein topologiesG S Jackson
MRC Prion Unit, Department of Neurogenetics, Imperial College School of Medicine at St Mary s, W2 1PG, London, UK
Microbes Infect 2:1445-9. 2000..Concomitantly, advances in the analysis of the abnormal isoform, PrP(Sc), have expanded our knowledge on the molecular basis of prion strains and have done much to reinforce the protein-only hypothesis of prion replication... - Expression pattern of a mini human PrP gene promoter in transgenic miceE A Asante
MRC Prion Unit, Department of Neurodegenerative Disease, Institute of Neurology, University College, Queen Square, London, WCIN 3BG, United Kingdom
Neurobiol Dis 10:1-7. 2002.... - Neuroimaging findings in human prion diseaseR G MacFarlane
MRC Prion Unit, Department of Neurodegenerative Disease, Institute of Neurology, London, UK
J Neurol Neurosurg Psychiatry 78:664-70. 2007..This paper reviews the current knowledge of imaging appearances in human prion disease... - Location and properties of metal-binding sites on the human prion proteinG S Jackson
Medical Research Council Prion Unit, Department of Neurogenetics, Imperial College School of Medicine at St. Mary's, London W2 1NY, United Kingdom
Proc Natl Acad Sci U S A 98:8531-5. 2001..A role for prion protein (PrP) in copper metabolism or transport seems likely and disturbance of this function may be involved in prion-related neurotoxicity... - Prion diseasesJ Collinge
Department of Biochemistry and Molecular Genetics, St Mary s Hospital Medical School, London, UK
Curr Opin Genet Dev 2:448-54. 1992..The conundrum of how a disease can both be inherited as an autosomal dominant condition and also be experimentally transmissible by inoculation is beginning to make sense... - Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob diseaseM S Palmer
Department of Biochemistry and Molecular Genetics, St Mary s Hospital Medical School, London, UK
Nature 352:340-2. 1991..We argue that homozygosity predisposes towards sporadic CJD and that this directly supports the hypothesis that interaction between prion protein molecules underlies the disease process... - Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 geneR J Harvey
Dementia Research Group, The National Hospital for Neurology and Neurosurgery and Imperial College School of Medicine at St Mary s, London, UK
J Neurol Neurosurg Psychiatry 64:44-9. 1998.... - Transmission of scrapie by steel-surface-bound prionsE Flechsig
Department of Neurogenetics, Imperial College School of Medicine at St Mary's, London, UK
Mol Med 7:679-84. 2001..This system mimics contaminated surgical instruments and will allow an assessment of sterilisation procedures... - An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4I G Yulug
Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, Imperial College, London, UK
Hum Mol Genet 4:1101-4. 1995 - Familial non-specific dementia maps to chromosome 3J Brown
Department of Biochemistry and Molecular Genetics, St Mary s Hospital Medical School, London, UK
Hum Mol Genet 4:1625-8. 1995..Like a number of other late onset neurodegenerative diseases, the disease presents at an earlier age when paternally inherited... - The neuropsychology of variant CJD: a comparative study with inherited and sporadic forms of prion diseaseR J Cordery
Dementia Research Group, The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
J Neurol Neurosurg Psychiatry 76:330-6. 2005..The results also suggest that nominal function may be preserved in some cases with inherited prion disease... - An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob diseaseF Owen
Division of Psychiatry, Clinical Research Centre, Harrow, Middlesex, U K
Brain Res Mol Brain Res 7:273-6. 1990..The possibility that this mutation may prove relevant to elucidating the mechanism of horizontal transmission of the spongiform encephalopathies is discussed... - Inherited prion disease with 144 base pair gene insertion. 1. Genealogical and molecular studiesM Poulter
Division of Psychiatry, Clinical Research Centre, Harrow, UK
Brain 115:675-85. 1992..The clinical features which were very variable and the neuropathological findings, which sometimes included spongiform encephalopathy, but which often did not, are described fully in the accompanying article (Collinge et al., 1992)... - Diagnosis of Gerstmann-Sträussler syndrome in familial dementia with prion protein gene analysisJ Collinge
Division of Psychiatry, Clinical Research Centre, Harrow, Middlesex, UK
Lancet 2:15-7. 1989..GSS may be more common than is currently realised; PrP gene analysis is potentially useful for diagnosis and genetic counselling in familial dementias and ataxias... - Post-natal knockout of prion protein alters hippocampal CA1 properties, but does not result in neurodegenerationG R Mallucci
MRC Prion Unit and Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London WC1N 3BG, UK
EMBO J 21:202-10. 2002..Furthermore, they show that acute depletion of PrP does not affect neuronal survival in this model, ruling out loss of PrP function as a pathogenic mechanism in prion disease and validating therapeutic approaches targeting PrP... - Questionnaire to reduce the risk of iatrogenic prion disease transmissionS Mead
J Hosp Infect 60:378-9. 2005 - Lack of TAR-DNA binding protein-43 (TDP-43) pathology in human prion diseasesA M Isaacs
MRC Prion Unit, UCL Institute of Neurology, London, U K
Neuropathol Appl Neurobiol 34:446-56. 2008..We therefore aimed to determine whether there is TDP-43 pathology in human prion diseases, which are characterised by variable deposition of prion protein (PrP) aggregates in the brain as amyloid plaques or more diffuse deposits... - Lymphocyte contamination of laryngoscope blades--a possible vector for transmission of variant Creutzfeldt-Jakob diseaseN Hirsch
Department of Neuroanaesthesia, The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
Anaesthesia 60:664-7. 2005..As prions resist routine sterilisation procedures, the use of non-disposable laryngoscope blades poses a risk of transmitting vCJD from patient to patient. The use of such instruments should be abandoned and disposable alternatives used... - Familial prion disease in a Hungarian family with a novel 144-base pair insertion in the prion protein geneT Kovacs
Department of Neurology, Semmelweis University, Budapest, Balassa u 6, H 1083 Hungary
J Neurol Neurosurg Psychiatry 78:321-3. 2007..In addition to the cerebellar and parahippocampal pathological changes already described, we also found deposits of pathological prion protein in the olfactory system... - Molecular neurology of prion diseaseJ Collinge
MRC Prion Unit and National Prion Clinic, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
J Neurol Neurosurg Psychiatry 76:906-19. 2005.... - Irregular presence of abnormal prion protein in appendix in variant Creutzfeldt-Jakob diseaseS Joiner
J Neurol Neurosurg Psychiatry 73:597-8. 2002 - Prion infectivity in variant Creutzfeldt-Jakob disease rectumJ D F Wadsworth
MRC Prion Unit and Department of Neurodegenerative Disease, Institute of Neurology, University College London, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
Gut 56:90-4. 2007..To date PrP(Sc):prion infectivity ratios have not been determined in vCJD, and it is unknown whether vCJD prions are similar to experimental rodent prions, where PrP(Sc) concentration typically reflects infectious prion titre... - XAFS study of the high-affinity copper-binding site of human PrP(91-231) and its low-resolution structure in solutionS S Hasnain
CCLRC Daresbury Laboratory, Daresbury, Warrington, Cheshire, UK
J Mol Biol 311:467-73. 2001..The restored molecular envelope is consistent with the picture where the N-terminal segment, residues 91-120, extends out from the previously known globular domain containing residues 121-231... - High levels of disease related prion protein in the ileum in variant Creutzfeldt-Jakob diseaseS Joiner
Gut 54:1506-8. 2005