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MRC Prion Unit
From fundamental research to prevention and cure
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2012 Publications

The Regiment and medical research: the BSE crisis, UK public health and cannibalism in Papua New Guinea
Whitfield J, Collinge J. Mars & Minerva 2012; 12: 3.

The risk of prion zoonoses
Collinge J.Science 2012; 335: 411-3.

Genetic variants influencing human aging from late-onset Alzheimer's disease (LOAD) genome-wide association studies (GWAS)
Shi H, Belbin O, Medway C, Brown K, Kalsheker N, Carrasquillo M, Proitsi P, Powell J, Lovestone S, Goate A, Younkin S, Passmore P; Genetic and Environmental Risk for Alzheimer's Disease Consortium, Morgan K; Alzheimer's Research UK Consortium. Neurobiol Aging 2012; 33: 1849.

The role of ECE1 variants in cognitive ability in old age and Alzheimer's disease risk.
Hamilton G, Harris SE, Davies G, Liewald DC, Tenesa A, Payton A, Horan MA, Ollier WE, Pendleton N; Genetic and Environmental Risk for Alzheimer's Disease (GERAD1) Consortium, Starr JM, Porteous D, Deary IJ.  Am J Med Genet B Neuropsychiatr Genet 2012; 159B: 696-70.

Large C9orf72 hexanucleotide repeat expansion mutations defined by a modified Southern blot are seen in multiple neurodegenerative syndromes and are of a higher frequency than expected in the UK population.
Beck J, Poulter M, Hensman D, Rohrer J, Mahoney C, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren J, Collinge J, Mead S.  Hum Mol Genet 2012; 92: 345-353.

MRI findings are often missed in the diagnosis of Creutzfeldt-Jakob disease
Carswell C, Thompson A, Lukic A, Stevens J, Rudge P, Mead S, Collinge J, Hyare H. BMC Neurol 2012; 12: 153.

Video rating in neurodegenerative disease clinical trials: the experience of PRION-1.
Carswell C, Rañopa M, Pal S, MacFarlane R, Siddique D, Thomas D, Webb T, Wroe S, Walker S, Darbyshire J, Collinge J, Mead S, Rudge P. Dement Geriatr Cogn Dis Extra 2012; 2: 286-97.

Letter: 11C-PiB PET does not detect PrP-amyloid in prion disease patients including variant Creutzfeldt-Jakob disease
Hyare H, Ramlackhansingh A, Gelosa G, Edison P, Rudge P, Brandner S, Brooks D, Collinge J, Mead S.  J Neurol Neurosurg Psychiatry 2012; 83: 340-1.

Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference
Nielsen TT, Mizielinska S, Hasholt L, Isaacs AM, Nielsen JE; FReJA Consortium.  J Gene Med 2012; 14: 521-9

Functional and genetic analysis of haplotypic sequence variation at the nicastrin genomic locus
Hamilton G, Killick R; Genetic and Environmental Risk for Alzheimer's Disease Consortium; Translational Genomics Research Institute Consortium, Lambert JC, Amouyel P; European Alzheimer Disease Initiative, Carrasquillo MM, Pankratz VS, Graff-Radford NR, Dickson DW, Petersen RC, Younkin SG, Powell JF, Wade-Martins R.  Neurobiol Aging 2012; 33: 1848.

Overexpression of Hspa13 (Stch) reduces prion disease incubation time in mice
Grizenkovaa J, Akhtara S, Hummerich H, Tomlinson A, Asante E, Wenborn A, Wiseman FK, Fisher EMC, Tybulewiczc VL, Brandner S, Collinge J, Lloyd SE. Proc Natl Acad Sci USA 2012; 109: 13722-7.

No consistent evidence for association between mtDNA variants and Alzheimer disease.
Hudson G, Sims R, Harold D, Chapman J, Hollingworth P, Gerrish A, Russo G, Hamshere M, Moskvina V, Jones N, Thomas C, Stretton A, Holmans PA, O'Donovan MC, Owen MJ, Williams J, Chinnery PF;GERAD1 Consortium. Neurology 2012; 78: 1038-42.

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features
Mahoney CJ, Beck J, Rohrer JD, Lashley T, Mok K, Shakespeare T, Yeatman T, Warrington EK, Schott JM, Fox NC, Rossor MN, Hardy J, Collinge J, Revesz T, Mead S, Warren JD.  Brain 2012; 135: 736-50.

Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice
Ghazi-Noori S, Froud KE, Mizielinska S, Powell C, Smidak M, Fernandez de Marco M, O'Malley C, Farmer M, Parkinson N, Fisher EM, Asante EA, Brandner S, Collinge J, Isaacs AM.  Brain 2012; 135: 819-32.

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross sectional study
Majounie E, Renton AE, Mok K, Dopper EGP, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O, The Chromosome 9-ALS/FTD Consortium, The French research network on FTLD/FTLD/ALS, The ITALSGEN Consortium, Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin JM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura T, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor B J.  Lancet Neurol 2012; 11: 323-30.

Plasmacytoid dendritic cells sequester high prion titres at early stages of prion infection
Castro-Seoane R, Hummerich H, Sweeting T, Tattum HM, Linehan JM, Fernandez de Marco M, Brandner S, Collinge J, Klöhn PC.  PLoS Pathog 2012; 8: e1002538.

Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation
Beck J, Collinge J, Mead S.  Brain 2012; 135: e209.

Prion protein antibodies do not trigger mouse hippocampal neuron apoptosis.
Klöhn PC, Farmer M, Linehan JM, O'Malley C, Fernandez de Marco M, Taylor W, Farrow M, Khalili-Shirazi A, Brandner S, Collinge J. Science 2012; 335: 52.

Distinct neuropsychological profiles correspond to distribution of cortical thinning in inherited prion disease caused by insertional mutation
Alner K, Hyare H, Mead S, Rudge P, Wroe S, Rohrer JD, Ridgeway G, Ourselin S, Clarkson M, Hunt H, Fox NC, Webb T, Collinge J, Cipolotti L.  J Neurol Neurosurg Psychiatry 2012; 83: 109-14.

The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease
Gerrish A, Russo G, Richards A, Moskvina V, Ivanov D, Harold D, Sims R, Abraham R, Hollingworth P, Chapman J, Hamshere M, Pahwa JS, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Johnston JA, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Kölsch H, Heun R, Schürmann B, Bussche HV, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Davies G, Harris SE, Starr JM, Deary IJ, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Jones L, Holmans PA, O'Donovan MC, Owen MJ, Williams J. J Alzheimers Dis 2012; 28: 377-87.

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
McNaughton D, Knight W, Guerreiro R, Ryan N, Lowe J, Poulter M, Nicholl D, Hardy J, Rossor, M, Collinge J, Mead S.  Neurobiol Ageing 2012; 33: 426

Genome wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP
Mead S, Uphill J, Beck J, Poulter M, Campbell T, Lowe J, Adamson G, Hummerich H, Klopp N, Ruckert IM, Wichmann HE, Azazi D, Plagnol V, Pako H, Whitfield J, Alpers MP, Whittaker J, Balding D, Zerr I, Kretzschmar H, Collinge J.  Hum Mol Genet 2012; 21: 1897-906.

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes Pietro Fratta, Sarah Mizielinska, Andrew J. Nicoll, Mire Zloh, Elizabeth M. C. Fisher, Gary Parkinson & Adrian M. Isaacs.
Sci Rep
. 2012;2:1016. doi: 10.1038/srep01016. Epub 2012.

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases
Sailer A, Scholz SW, Gibbs JR, Tucci A, Johnson JO, Wood NW, Plagnol V, Hummerich H, Ding J, Hernandez D, Hardy J, Federoff HJ, Traynor BJ, Singleton AB, Houlden H.  Neurology 2012; 79: 127-31

A common single-nucleotide variant in T is strongly associated with chordoma
Pillay N, Plagnol V, Tarpey PS, Lobo SB, Presneau N, Szuhai K, Halai D, Berisha F, Cannon SR, Mead S, Kasperaviciute D, Palmen J, Talmud PJ, Kindblom LG, Amary MF, Tirabosco R, Flanagan AM. Nat Genet 2012; 44: 1185-7.

Longitudinal neuroimaging and neuropsychological profiles of frontotemporal dementia with C9ORF72 expansions
Mahoney CJ, Downey LE, Ridgway GR, Beck J, Clegg S, Blair M, Finnegan S,
Leung KK, Yeatman T, Golden H, Mead S, Rohrer JD, Fox NC, Warren JD. Alzheimers Res Ther 2012; 4: 41.