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MRC Prion Unit
From fundamental research to prevention and cure
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2013 Publications

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, Jun G, Destefano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Jones N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Gerrish A, Schmidt H, Kunkle B, Dunstan ML, Ruiz A, Bihoreau MT, Choi SH, Reitz C, Pasquier F, Hollingworth P, Ramirez A, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Morón FJ, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Green R, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, St George-Hyslop P, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Sanchez-Garcia F, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Mancuso M, Matthews F; European Alzheimer's Disease Initiative (EADI); Genetic and Environmental Risk in Alzheimer's Disease (GERAD); Alzheimer's Disease Genetic Consortium (ADGC); Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE), Moebus S, Mecocci P, Del Zompo M, Maier W, Hampel H, Pilotto A, Bullido M, Panza F, Caffarra P, Nacmias B, Gilbert JR, Mayhaus M, Lannfelt L, Hakonarson H, Pichler S, Carrasquillo MM, Ingelsson M, Beekly D, Alvarez V, Zou F, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH Jr, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn RF, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JS, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin ER, Schmidt R, Rujescu D, Wang LS, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Jones L, Haines JL, Holmans PA, Lathrop M, Pericak-Vance MA, Launer LJ, Farrer LA, van Duijn CM, Van Broeckhoven C, Moskvina V, Seshadri S, Williams J, Schellenberg GD, Amouyel P. Nat Genet 2013; 45: 1452-8.

Authors’ response to comment on ‘Autoantibodies in sporadic Creutzfeldt-Jakob disease’
Angus-Leppan H, Rudge P, Mead S, Collinge J, Vincent A . JAMA Neurol 2013; 70: 1589.

Inherited Prion Disease A117V is not simply a proteinopathy but produces prions transmissible to transgenic mice expressing homologous prion protein
Asante EA, Linehan JM, Smidak M, Tomlinson A, Grimshaw A, Jeelani A, Jakubcova T, Hamdan S, O’Malley C, Powell C, Brandner S, Wadsworth JDF, Collinge J.  PLoS Pathog 2013; 9: e1003643.

Atypical scrapie prions from sheep fail to produce disease in transgenic mice overexpressing human prion protein.
Wadsworth JDF, Joiner S, Linehan JM, Balkema-Buschmann A, Spiropoulos J, Simmons MM, Griffiths PC, Groschup MH, Hope J, Brandner S, Asante EA, Collinge J. Emerg Infect Dis 2013; 19: 1731-39.

Amyloid-β nanotubes are associated with prion protein dependent synaptotoxicity.
Nicoll AJ, Panico S, Freir D, Wright D, Terry C, Risse E, Herron CE, O’Malley T, Wadsworth J, Farrow M, Walsh D, Saibil HR, Collinge J.  Nat Commun 2013; 4: 2416. 

Exosome release from infected dendritic cells: A clue for a fast spread of prions in the periphery?
Klöhn PC, Castro-Seoane R, Collinge J.
J Infect
. 2013 Jul 31. doi:pii: S0163-4453(13)00211-9. 10.1016/j.jinf.2013.07.024.


Genetics of prion diseases
Lloyd SE, Mead S, Collinge J. Curr Opin Genet Dev 2013; 23: 345-51.

Developing early diagnostics for prion diseases
Jackson GS, Mead S, Collinge J.  Neurodegener Dis Manag 2013; 3: 53-60.

Validation of next generation sequencing technologies in genetic diagnosis of dementia
Beck J, Pittman A, Adamson G, Campbell T, Kenny J, Houlden H, Rohrer JD, de Silva R, Shoai M, Uphill J, Poulter M, Hardy J, Mummery CJ, Warren JD, Schott JM, Fox NC, Rossor MN, Collinge J, Mead S.  Neurobiol Aging 2013; 35: 261-5.

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
Fratta P, Poulter M, Lashley T, Rohrer JD, Polke JM, Beck J, Ryan N, Hensman D, Mizielinska S, Waite AJ, Lai MC, Gendron TF, Petrucelli L, Fisher EMC, Revesz T, Warren JD, Collinge J, Isaacs AM, Mead S. Neuropathol 2013; 126: 401- 9.

A novel prion disease presenting with diarrhea and autonomic neuropathy
Mead S, Gandhi S, Beck J, Caine D, Gallujipali D, Carswell C, Hyare H, Joiner S, Ayling H, Lashley T, Linehan JM, Al-Doujaily H, Sharps B, Revesz T, Sandberg M, Reilly M, Koltzenburg M, Forbes A, Rudge P, Brandner S, Warren JD, Wadsworth JDF, Wood NW, Holton JL, Collinge J.  New Eng J Med 2013; 369: 1904-14.

Autoantibodies in sporadic Creutzfeldt-Jakob disease
Angus-Leppan H, Rudge P, Mead S, Collinge J, Vincent A. JAMA Neurol 2013; 70: 919-22.

Alternative fates of newly formed PrPSc upon prion conversion on the plasma membrane
Goold R, McKinnon C, Rabbanian S, Collinge J, Schiavo G, Tabrizi SJ.  J Cell Sci 2013; 126: 3552-62.

Filamentous white matter prion protein deposition is a distinctive feature of multiple inherited prion diseases
Reiniger L, Mirabile I, Lukic A, Wadsworth JDF, Linehan JM, Groves M, Lowe J, Druyeh R, Rudge P, Collinge J, Mead S, Brandner S. Acta Neuropathol Comm 2013; 1: 8.

Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers: a longitudinal prospective study.
Stokholm J, Teasdale TW, Johannsen P, Nielsen JE, Nielsen TT, Isaacs A, Brown JM, Gade A; Frontotemporal dementia Research in Jutland Association (FReJA) consortium.
J Neurol Neurosurg Psychiatry 2013; 84: 170-6.

The Medical Research Council Prion Disease Rating Scale: a new outcome measure for prion disease therapeutic trials developed and validated using systematic observational studies
Thompson A, Lowe J, Fox Z, Lukic A, Porter MC, Ford L, Gorham M, Gopalakrishnan G, Rudge P, Walker SA, Collinge J, Mead S. Brain 2013; 136: 1116-27. 

Alternative fates of newly formed PrPSc upon prion conversion on the plasma membrane
R Goold, C McKinnon, S Rabbanian, J Collinge, G Schiavo, SJ Tabrizi

Journal of Cell Science. June 26, 2013 doi: 10.1242/​jcs.120477

Sod1 deficiency reduces incubation time in mouse models of prion disease
Akhtar S, Grizenkova J, Wenborn A, Hummerich H, Fernandez de Marco M, Brandner S, Collinge J, Lloyd SE.  PLoS One 2013; 8: e54454.

Multiparameter MR imaging in the 6-OPRI variant of inherited prion disease
De Vita E, Ridgway GR, Scahill R, Caine D, Rudge P, Yousry T, Mead S, Collinge J, Jäger HR, Thornton JS, Hyare H. AJNR Am J Neuroradiol 2013; 34: 1723-30.

A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer’s disease risk.
Chapman J, Rees E, Harold D, Invanov D, Gerrish A, Sims R, Hollingworth P, Stretton A, GERAD1 Consortium, Holmans P, Owen MJ, O’Donovan MC, Williams J, Kirov G.  Hum Mol Genet 2013; 22: 816-24.

TREM2 variants predispose to Alzheimer’s disease
Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JSK, Lupton MK, Mina Ryten1, Kristelle Brown9, the EADI Consortium, the GERAD Consortium, the UKBE Consortium, Lowe J, Ridge PG, Hammer MB, Wakutani Y, Hazrati L, Proitsi P, Newhouse S, Lohmann E, Erginel- Unaltuna N, Medway C, Hanagasi H, Troakes C, Gurvit H, Bilgic B, Al-Sarraj S, Benitez B, Cooper B, Carrell D, Emre M, Zou F, Ma L, Murray M, Dickson D, Younkin S, Petersen RC, Corcoran CD, Cai Y, Oliveira C, Ribeiro MH, Santana I, Tschanz JT, Gibbs R, Norton MC, Kloszewska I, Mecocci P, Soininen H, Tsolaki M, Vellas B, Munger RG, Mann DMA, Pickering-Brown S, Lovestone S, Beck J, Mead S, Collinge J, Parsons L, Pocock J, Morris JC, Revesz T, Lashley T, Fox NC, Rossor MN, Grenier-Bolay B, Bellenguez C, Moskvina V, Sims R, Harold D, Williams J, Lambert JC, Amouyel P, Graff-Radford N, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, Singleton A, Hardy J. N Engl J Med 2013; 368: 117-2.

Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data
Prof Sarah J Tabrizi PhD a , Rachael I Scahill PhD a, Gail Owen PhD a, Alexandra Durr MD b, Blair R Leavitt MDCM c, Prof Raymund A Roos MD d, Beth Borowsky PhD e, Prof Bernhard Landwehrmeyer MD f, Prof Chris Frost MA g, Hans Johnson PhD h, David Craufurd MD j k, Ralf Reilmann MD l, Prof Julie C Stout PhD m, Prof Douglas R Langbehn PhD h i, the TRACK-HD Investigators

The Lancet Neurology, Early Online Publication, 9 May 2013

Massively Parallel Sequencing Reveals the Complex Structure of an rradiated Human Chromosome on a Mouse Background in the Tc1 Model of Down Syndrome
Susan M. Gribble, Frances K. Wiseman, Stephen Clayton, Elena Prigmore, Elizabeth Langley, Fengtang Yang, Sean Maguire, Beiyuan Fu, Diana Rajan, Olivia Sheppard, Carol Scott, Heidi Hauser, Philip J. Stephens, Lucy A. Stebbings, Bee Ling Ng, Tomas Fitzgerald, Michael A. Quail, Ruby Banerjee, Kai Rothkamm, Victor L. J. Tybulewicz, Elizabeth M. C. Fisher, Nigel P. Carter

PLOS ONE April 2013 10.1371/journal.pone.0060482

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population
Jon Beck, Mark Poulter, Davina Hensman, Jonathan D. Rohrer, Colin J. Mahoney, Gary Adamson, Tracy Campbell, James Uphill, Aaron Borg, Pietro Fratta, Richard W. Orrell, Andrea Malaspina, James Rowe, Jeremy Brown, John Hodges, Katie Sidle, James M. Polke, Henry Houlden, Jonathan M. Schott, Nick C. Fox, Martin N. Rossor, Sarah J. Tabrizi, Adrian M. Isaacs, John Hardy, Jason D. Warren, John Collinge, and Simon Mead
Am J Hum Genet. 2013 Feb 19. pii: S0002-9297(13)00043-8. doi: 10.1016 

The presenilin 1 P264L mutation presenting as non-fluent/agrammatic primary progressive aphasia.
Mahoney CJ, Downey LE, Beck J, Liang Y, Mead S, Perry RJ, Warren JD. J Alzheimers Dis 2013; 36: 239-43.

Prevalent abnormal prion protein in human appendixes after bovine spongiform encephalopathy epizootic: large scale survey
Gill ON, Spencer Y, Richard-Loendt A, Kelly C, Dabaghian R, Boyes L, Linehan J, Simmons M, Webb P, Bellerby P, Andrews N, Hilton DA, Ironside JW, Beck J, Poulter M, Mead S, Brandner S.  BMJ 2013; 347: f5675.

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene
Guerreiro R, Kara E, Le Ber I, Bras J, Rohrer JD, Taipa R, Lashley T, Dupuits C, Gurunlian N, Mochel F, Warren JD, Hannequin D, Sedel F, Depienne C, Camuzat A, Golfier V, Du Boisguéheneuc F, Schottlaender L, Fox NC, Beck J, Mead S, Rossor MN, Hardy J, Revesz T, Brice A, Houlden H.  JAMA Neurol 2013; 70: 875-82.

A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk
Chapman J, Rees E, Harold D, Ivanov D, Gerrish A, Sims R, Hollingworth P, Stretton A; GERAD1 Consortium, Holmans P, Owen MJ, O'Donovan MC, Williams J, Kirov G.  Hum Mol Genet 2013; 22: 816-24.

Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasia
Rohrer JD, Beck J, Plagnol V, Gordon E, Lashley T, Revesz T, Janssen JC, Fox NC, Warren JD, Rossor MN, Mead S, Schott JM. 
J Neurol Neurosurg Psychiatry 2013; 84: 1411-2.

Linking protective GAB2 variants, increased cortical GAB2 expression and decreased Alzheimer's disease pathology
Zou F, Belbin O, Carrasquillo MM, Culley OJ, Hunter TA, Ma L, Bisceglio GD, Allen M, Dickson DW, Graff-Radford NR, Petersen RC; Genetic and Environmental Risk for Alzheimer’s disease (GERAD1) Consortium, Morgan K, Younkin SG. PLoS One 2013; 8: e64802.

Genetic influences on atrophy patterns in familial Alzheimer's Disease: a comparison of APP and PSEN1 mutations
Scahill RI, Ridgway GR, Bartlett JW, Barnes J, Ryan NS, Mead S, Beck J, Clarkson MJ, Crutch SJ, Schott JM, Ourselin S, Warren JD, Hardy J, Rossor MN, Fox NC. J Alzheimers Dis 2013; 35: 199-212.

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.
Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, 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 JD, Collinge J, Mead S. Am J Hum Genet 2013; 92: 345-53.

Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis
Lee SH, Harold D, Nyholt DR; ANZGene Consortium; International Endogene Consortium; Genetic and Environmental Risk for Alzheimer's disease Consortium, Goddard ME, Zondervan KT, Williams J, Montgomery GW, Wray NR, Visscher PM.
Hum Mol Genet 2013; 22: 832-41.