Simon Mead

Summary

Affiliation: University College London
Country: UK

Publications

  1. ncbi request reprint Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics
    Simon Mead
    Medical Research Council Prion Unit, and Department of Neurodegenerative Disease, Institute of Neurology, University College, Queen Square, London WC1N 3BG, UK
    Science 300:640-3. 2003
  2. pmc Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series
    Daniel McNaughton
    MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK
    Neurobiol Aging 33:426.e13-21. 2012
  3. ncbi request reprint Prion disease genetics
    Simon Mead
    MRC Prion Unit, Department of Neurodegenerative Diseases, Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Eur J Hum Genet 14:273-81. 2006
  4. pmc Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study
    Simon Mead
    Medical Research Council Prion Unit and Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London, UK
    Lancet Neurol 8:57-66. 2009
  5. pmc Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population
    Jon Beck
    Medical Research Council Prion Unit, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London, UK
    Am J Hum Genet 92:345-53. 2013
  6. pmc C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
    Davina J Hensman Moss
    From the Departments of Neurodegenerative Disease D J H M, P M, E J W, S M, S J T and Molecular Neuroscience H H, UCL Institute of Neurology, London MRC Prion Unit M P, J B, T C, G A, London and Neurogenetics Unit J H, J M P, E M, A H, M G S, H H, National Hospital for Neurology and Neurosurgery, University College London Hospitals, UK
    Neurology 82:292-9. 2014
  7. doi request reprint PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit
    Jon A Beck
    MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK
    Hum Mutat 31:E1551-63. 2010
  8. pmc Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
    Pietro Fratta
    Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK
    Acta Neuropathol 126:401-9. 2013
  9. pmc Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP
    Simon Mead
    MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Hum Mol Genet 21:1897-906. 2012
  10. pmc Genetic susceptibility, evolution and the kuru epidemic
    Simon Mead
    Department of Neurodegenerative Disease, MRC Prion Unit, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
    Philos Trans R Soc Lond B Biol Sci 363:3741-6. 2008

Detail Information

Publications49

  1. ncbi request reprint Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics
    Simon Mead
    Medical Research Council Prion Unit, and Department of Neurodegenerative Disease, Institute of Neurology, University College, Queen Square, London WC1N 3BG, UK
    Science 300:640-3. 2003
    ..Worldwide PRNP haplotype diversity and coding allele frequencies suggest that strong balancing selection at this locus occurred during the evolution of modern humans...
  2. pmc Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series
    Daniel McNaughton
    MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK
    Neurobiol Aging 33:426.e13-21. 2012
    ..The recognized phenotype may be expanded to include the possibility of early seizures and apparently sporadic disease which, in part, may be due to different mutational mechanisms. The pros and cons of our screening method are discussed...
  3. ncbi request reprint Prion disease genetics
    Simon Mead
    MRC Prion Unit, Department of Neurodegenerative Diseases, Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Eur J Hum Genet 14:273-81. 2006
    ..The prospects for detection of novel genetic susceptibility factors using mouse models and human genetic association studies will be explored...
  4. pmc Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study
    Simon Mead
    Medical Research Council Prion Unit and Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London, UK
    Lancet Neurol 8:57-66. 2009
    ....
  5. pmc Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population
    Jon Beck
    Medical Research Council Prion Unit, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London, UK
    Am J Hum Genet 92:345-53. 2013
    ..C9orf72-related disease might mimic several neurodegenerative disorders and, with potentially 90,000 carriers in the United Kingdom, is more common than previously realized...
  6. pmc C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
    Davina J Hensman Moss
    From the Departments of Neurodegenerative Disease D J H M, P M, E J W, S M, S J T and Molecular Neuroscience H H, UCL Institute of Neurology, London MRC Prion Unit M P, J B, T C, G A, London and Neurogenetics Unit J H, J M P, E M, A H, M G S, H H, National Hospital for Neurology and Neurosurgery, University College London Hospitals, UK
    Neurology 82:292-9. 2014
    ..Our objective was to determine whether this mutation causes HD phenocopies...
  7. doi request reprint PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit
    Jon A Beck
    MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK
    Hum Mutat 31:E1551-63. 2010
    ..New genotype-phenotype correlations and population frequencies presented will help the diagnosis and genetic counselling of those with suspected inherited prion disease...
  8. pmc Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
    Pietro Fratta
    Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK
    Acta Neuropathol 126:401-9. 2013
    ..Our findings have implications for genetic counselling, highlighting the need to use genetic tests that distinguish C9orf72 homozygosity. ..
  9. pmc Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP
    Simon Mead
    MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Hum Mol Genet 21:1897-906. 2012
    ..Our data are most consistent with several other risk loci of modest overall effects which will require further genetic association studies to provide definitive evidence...
  10. pmc Genetic susceptibility, evolution and the kuru epidemic
    Simon Mead
    Department of Neurodegenerative Disease, MRC Prion Unit, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
    Philos Trans R Soc Lond B Biol Sci 363:3741-6. 2008
    ..Kuru may have imposed the strongest episode of recent human balancing selection, which may not have been an isolated episode in human history...
  11. pmc Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations
    Jonathan D Rohrer
    Dementia Research Centre, UCL Institute of Neurology, University College London, Queen Square, London, WC1N 3BG, UK
    Neuroimage 53:1070-6. 2010
    ..The findings suggest that the effects of GRN and MAPT mutations are expressed in partly overlapping but distinct anatomical networks that link specific molecular dysfunction with clinical phenotype...
  12. pmc Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features
    Colin J Mahoney
    Dementia Research Centre, Department of Neurodegenerative Diseases, UCL Institute of Neurology, London WC1N 3BG, UK
    Brain 135:736-50. 2012
    ....
  13. pmc Mapping the progression of progranulin-associated frontotemporal lobar degeneration
    Jonathan D Rohrer
    Dementia Research Centre, Institute of Neurology, University College London, London, UK
    Nat Clin Pract Neurol 4:455-60. 2008
    ..The patient was initially asymptomatic but developed progressive behavioral and cognitive decline characterized by apathy, impaired emotion recognition, mixed aphasia and parietal lobe dysfunction...
  14. doi request reprint Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors
    Diego N Kaski
    National Prion Clinic, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK
    Brain 134:1829-38. 2011
    ..These findings may provide a precedent for understanding apparently sporadic neurodegenerative diseases caused by rare high-risk mutations...
  15. pmc A clinical study of kuru patients with long incubation periods at the end of the epidemic in Papua New Guinea
    John Collinge
    Department of Neurodegenerative Disease, MRC Prion Unit, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
    Philos Trans R Soc Lond B Biol Sci 363:3725-39. 2008
    ..Importantly, no evidence for lymphoreticular colonization with prions, seen uniformly in vCJD, was observed in a patient with kuru at tonsil biopsy...
  16. ncbi request reprint Creutzfeldt-Jakob disease, prion protein gene codon 129VV, and a novel PrPSc type in a young British woman
    Simon Mead
    MRC Prion Unit and Department of Neurodegenerative Disease, Institute of Neurology, University College London, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
    Arch Neurol 64:1780-4. 2007
    ..Modeling studies in transgenic mice suggest that other PRNP genotypes will also be susceptible to infection with bovine spongiform encephalopathy prions but may develop distinctive phenotypes...
  17. doi request reprint Validation of next-generation sequencing technologies in genetic diagnosis of dementia
    John Beck
    MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK
    Neurobiol Aging 35:261-5. 2014
    ..The MRC Dementia Gene Panel and similar technologies are likely to be transformational in EOD diagnosis with a significant impact on the proportion of patients in whom a genetic cause is identified. ..
  18. pmc Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene
    Jonathan D Rohrer
    Dementia Research Centre, Institute of Neurology, University College London, London, England
    Arch Neurol 65:506-13. 2008
    ..To describe the clinical, neuropsychologic, and radiologic features of a family with a C31LfsX35 mutation in the progranulin gene CCDS11483.1)...
  19. ncbi request reprint Genetic influences on atrophy patterns in familial Alzheimer's disease: a comparison of APP and PSEN1 mutations
    Rachael I Scahill
    Dementia Research Centre, Department of Neurodegeneration, UCL Institute of Neurology, London, UK
    J Alzheimers Dis 35:199-212. 2013
    ..We conclude that the mechanisms by which APP and PSEN1 mutations cause neuronal loss may differ which furthers our understanding of the neuropathology underlying AD and may inform future therapeutic strategies and trial designs...
  20. doi request reprint Molecular diagnosis of human prion disease
    Jonathan D F Wadsworth
    MRC Prion Unit, University College London Institute of Neurology, London, UK
    Methods Mol Biol 459:197-227. 2008
    ....
  21. pmc Kuru prions and sporadic Creutzfeldt-Jakob disease prions have equivalent transmission properties in transgenic and wild-type mice
    Jonathan D F Wadsworth
    Medical Research Council Prion Unit and Department of Neurodegenerative Disease, University College London Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom
    Proc Natl Acad Sci U S A 105:3885-90. 2008
    ..These findings are consistent with the hypothesis that kuru originated from chance consumption of an individual with sporadic CJD...
  22. pmc Tau, prions and Aβ: the triad of neurodegeneration
    Lilla Reiniger
    Division of Neuropathology, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, WC1N 3BG, London, UK
    Acta Neuropathol 121:5-20. 2011
    ..This includes the novel finding that tau phosphorylation consistently occurs in sporadic CJD, in the absence of amyloid plaques...
  23. pmc Progressive logopenic/phonological aphasia: erosion of the language network
    Jonathan D Rohrer
    Dementia Research Centre, Institute of Neurology, University College London, Queen Square, London, UK
    Neuroimage 49:984-93. 2010
    ....
  24. pmc A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series
    Jonathan Beck
    MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
    Brain 131:706-20. 2008
    ..Finally, we confirmed a modifying effect of APOE-E4 genotype on clinical phenotype with a later onset in the GRN carriers suggesting that this gene has distinct phenotypic effects in different neurodegenerative diseases...
  25. ncbi request reprint Population screening for variant Creutzfeldt-Jakob disease using a novel blood test: diagnostic accuracy and feasibility study
    Graham S Jackson
    MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, England
    JAMA Neurol 71:421-8. 2014
    ..In a clinical diagnostic capacity, the assay's likelihood ratios dramatically change an individual's pretest disease odds to posttest probabilities and can confirm vCJD infection...
  26. ncbi request reprint Variant Creutzfeldt-Jakob disease with extremely low lymphoreticular deposition of prion protein
    Simon Mead
    National Prion Clinic, National Hospital for Neurology and Neurosurgery, Queen Square, London, England2Medical Research Council Prion Unit, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London, EN
    JAMA Neurol 71:340-3. 2014
    ..To date, all clinical cases have been fatal, totaling 228 mostly young adults residing in the United Kingdom...
  27. doi request reprint First report of Creutzfeldt-Jakob disease occurring in 2 siblings unexplained by PRNP mutation
    Thomas E F Webb
    National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCLH Hospitals Trust, Queen Square, London, United Kingdom
    J Neuropathol Exp Neurol 67:838-41. 2008
    ..Possible explanations include coincidental occurrence, common exposure to an unidentified environmental source of prions, horizontal transmission of disease, or the presence of unknown shared genetic predisposition...
  28. pmc HECTD2 is associated with susceptibility to mouse and human prion disease
    Sarah E Lloyd
    MRC Prion Unit, University College London Institute of Neurology, London, United Kingdom
    PLoS Genet 5:e1000383. 2009
    ..Characterisation of such genes is key to understanding human risk and the molecular basis of incubation periods...
  29. doi request reprint Successful amplification of degraded DNA for use with high-throughput SNP genotyping platforms
    Simon Mead
    Medical Research Council MRC Prion Unit and Department of Neurodegenerative Disease, Institute of Neurology, London, United Kingdom
    Hum Mutat 29:1452-8. 2008
    ..7% using degraded samples amplified by GPLEX on GG technology at 2 x loading concentration. These findings may be useful for investigators planning case-control association studies with patient samples of suboptimal quality...
  30. pmc HECTD2, a candidate susceptibility gene for Alzheimer's disease on 10q
    Sarah E Lloyd
    MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK
    BMC Med Genet 10:90. 2009
    ..In this study we test whether the HECTD2 susceptibility allele seen in prion disease is also implicated in LOAD...
  31. doi request reprint A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes
    Jonathan D Rohrer
    Dementia Research Centre, Institute of Neurology, Queen Square, London, WC1N 3BG, UK
    J Neurol 258:1494-6. 2011
    ..Together these cases suggest a potential for the same VCP mutation to produce distinct patterns of brain damage, underlining the clinical heterogeneity of VCP-associated disease...
  32. doi request reprint Detection of prion infection in variant Creutzfeldt-Jakob disease: a blood-based assay
    Julie Ann Edgeworth
    MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK
    Lancet 377:487-93. 2011
    ..We aimed to establish the sensitivity and specificity of a blood-based assay for detection of vCJD prion infection...
  33. pmc Prevalent abnormal prion protein in human appendixes after bovine spongiform encephalopathy epizootic: large scale survey
    O Noel Gill
    HIV and STI Department, and CJD Section, National Centre for Infectious Disease Surveillance and Control, Public Health England, London, UK
    BMJ 347:f5675. 2013
    ....
  34. pmc MRI findings are often missed in the diagnosis of Creutzfeldt-Jakob disease
    Christopher Carswell
    MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, and National Prion Clinic, University College London Hospitals NHS Trust, WC1N 3BG, London, UK
    BMC Neurol 12:153. 2012
    ....
  35. doi request reprint Magnetization transfer ratio may be a surrogate of spongiform change in human prion diseases
    Durrenajaf Siddique
    Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
    Brain 133:3058-68. 2010
    ..The magnetic resonance imaging measurement of magnetization transfer ratios may be an in vivo surrogate for spongiform change and has potential utility as a therapeutic biomarker in human prion disease...
  36. ncbi request reprint Inherited prion disease with six octapeptide repeat insertional mutation--molecular analysis of phenotypic heterogeneity
    Simon Mead
    MRC Prion Unit, Department of Neurodegenerative Diseases, Institute of Neurology, King s College Hospital, London, UK
    Brain 129:2297-317. 2006
    ....
  37. doi request reprint Genetics of prion disease
    Sarah Lloyd
    MRC Prion Unit and Department of Neurodegenerative Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK
    Top Curr Chem 305:1-22. 2011
    ....
  38. pmc Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration
    Jonathan D Rohrer
    Dementia Research Centre, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Brain 134:2565-81. 2011
    ....
  39. ncbi request reprint A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia
    Tammaryn Lashley
    Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
    Neuropathol Appl Neurobiol 40:502-13. 2014
    ..In this study we present a family that have been identified as carrying both a GRN Cys31fs mutation and the C9orf72 hexanucleotide expansion repeat...
  40. pmc Genome wide association studies and prion disease
    ANA LUKIC
    National Prion Clinic, UCLH NHS Trust, London, UK
    Prion 5:154-60. 2011
    ....
  41. doi request reprint The Medical Research Council prion disease rating scale: a new outcome measure for prion disease therapeutic trials developed and validated using systematic observational studies
    Andrew G B Thompson
    FRS, MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK
    Brain 136:1116-27. 2013
    ..Such approaches may be advantageous in orphan conditions, where single studies of feasible duration will often struggle to achieve statistical power...
  42. pmc The presenilin 1 P264L mutation presenting as non-fluent/agrammatic primary progressive aphasia
    Colin J Mahoney
    Dementia Research Centre, UCL Institute of Neurology, London, UK
    J Alzheimers Dis 36:239-43. 2013
    ..The case adds to accumulating evidence that particular mutations can promote specific brain network degeneration, with wider implications for understanding the sporadic forms of Alzheimer's disease and PPA...
  43. doi request reprint Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene
    Rita Guerreiro
    Reta Lilla Weston Laboratories, Department of Molecular Neuroscience, Institute of Neurology, University College London, London, England
    JAMA Neurol 70:875-82. 2013
    ..The detection of mutations in this gene in cases diagnosed with different clinical entities further demonstrated the difficulties in the clinical diagnosis of HDLS...
  44. pmc Genetics of prion diseases
    Sarah E Lloyd
    MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, London, WC1N 3BG, UK
    Curr Opin Genet Dev 23:345-51. 2013
    ..Expression profiling has identified new candidates, including Hspa13, which reduces incubation time in a transgenic model. ..
  45. pmc FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration
    Hazel Urwin
    UCL Institute of Neurology, London, UK
    Acta Neuropathol 120:33-41. 2010
    ..We identified three FTLD-UPS cases, which are negative for CHMP2B mutation, suggesting that the full complement of FTLD pathologies is yet to be elucidated...
  46. doi request reprint How does the genetic assassin select its neuronal target?
    James C Stevens
    Department of Neurodegenerative Disease, University College London, Queen Square, London, WC1N 3BG, UK
    Mamm Genome 22:139-47. 2011
    ..Here we discuss possible explanations for neuronal targeting, why specific neuronal subtypes are vulnerable to specific mutations in ubiquitously expressed genes...
  47. ncbi request reprint Kuru in the 21st century--an acquired human prion disease with very long incubation periods
    John Collinge
    MRC Prion Unit and Department of Neurodegenerative Disease, Institute of Neurology, University College London, London WC1N 3BG, UK
    Lancet 367:2068-74. 2006
    ..We investigated possible incubation periods, pathogenesis, and genetic susceptibility factors in kuru patients in Papua New Guinea...
  48. pmc Video Rating in Neurodegenerative Disease Clinical Trials: The Experience of PRION-1
    Christopher Carswell
    MRC Prion Unit and Department of Neurodegenerative Disease, University College London Institute of Neurology, and National Prion Clinic, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London, UK
    Dement Geriatr Cogn Dis Extra 2:286-97. 2012
    ....
  49. ncbi request reprint Prion protein (PRNP) genotypes in frontotemporal lobar degeneration syndromes
    Jonathan D Rohrer
    Ann Neurol 60:616; author reply 617. 2006