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MRC Prion Unit
From fundamental research to prevention and cure
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2014 Publications

GWAS of behavioural and psychiatric features in human prion disease
Thompson A, MacKay A, Rudge P, Lukic A, Porter M-C, Lowe J, Collinge J, Mead S.
Translational Psychiatry 2014

Trem2 variants increase risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia.
Slattery C, Beck J, Harper L, Adamson G, Abdi Z, Uphill J, Campbell T, Druyeh R, Mahoney C, Rohrer J, Kenny J, Lowe J, Leung K, Barnes J, Clegg S, Blair M, Nicholas J, Guerreiro R, Rowe J, Ponto C, Zerr I, Kretzschmar H, Gambetti P, Crutch S, Warren J, Rossor M, Fox N, Collinge J, Schott J, Mead S. J Neurol Neurosurg Psychiatry 2014; 85: e3.

N-terminal domain of prion protein directs its oligomeric association
Trevitt C, Hosszu L, Batchelor M, Panico S, Terry C, Nicoll A, Risse E, Taylor W, Sandberg M, Al-Doujaily H, Linehan J, Saibil H, Scott D, Collinge J, Waltho J, Clarke A. 
Journal of Biological Chemistry. 2014, Jul 29.Epub ahead of print.

R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia
Slattery C, Beck J, Harper L, Adamson G, Abdi Z, Uphill J, Campbell T, Druyeh R, Mahoney C, Rohrer J, Kenny J, Lowe J, Leung K, Barnes J, Clegg S, Blair M, Nicholas J, Guerreiro R, Rowe J, Ponto C, Zerr I, Kretzschmar H, Gambetti P, Crutch S, Warren J, Rossor M, Fox N, Collinge J, Schott J, Mead S. Alzeimers Dement. 2014, Aug 23, Epub ahead of print.

Postmortem findings in a case of variant Creutzfeldt-Jakob disease treated with intraventricular pentosan polysulfate
Newman PK, Todd NV, Scoones D, Mead S, Knight RS, Will RG, Ironside JW. J Neurol Neurosurg Psychiatry 2014.

Gene-wide analysis detects two new susceptibility genes for Alzheimer's Disease
Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, Jun G, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Denning N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Schmidt H, Kunkle B, Dunstan ML, Vronskaya M; the United Kingdom Brain Expression Consortium, Johnson AD, Ruiz A, Bihoreau MT, Reitz C, Pasquier F, Hollingworth P, 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, Hernández I, 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, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, George-Hyslop PS, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Garcia FS, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Scarpini E, Bonuccelli U, Mancuso M, Siciliano G, Moebus S, Mecocci P, Zompo MD, Maier W, Hampel H, Pilotto A, Frank-García A, Panza F, Solfrizzi V, Caffarra P, Nacmias B, Perry W, 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, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Haines JL, Lathrop M, Pericak-Vance MA, Launer LJ, Van Broeckhoven C, Farrer LA, van Duijn CM, Ramirez A, Seshadri S, Schellenberg GD, Amouyel P, Williams J. Gene-Wide . PLoS One 2014; 9: e94661.

Prion neuropathology follows the accumulation of alternate prion protein isoforms after infective titre has peaked
Sandberg M, Al-Doujaily H, Sharps B, Wiggins De Oliveira M, Schmidt C, Richard-Londt A, Lyall S, Linehan J, Brandner S, Wadsworth J, Clarke A, Collinge J. Prion Nat Commun 2014 

Altered body schema processing in frontotemporal dementia with C9ORF72 mutations
Downey LE, Fletcher PD, Golden HL, Mahoney CJ, Agustus JL, Schott JM, Rohrer JD, Beck J, Mead S, Rossor MN, Crutch SJ, Warren JD.J Neurol Neurosurg Psychiatry 2014

In-vitro screen of prion disease susceptibility genes using the scrapie cell assay
Brown CA, Schmidt C, Poulter M, Hummerich H, Klöhn PC, Jat P, Mead S, Collinge J, Lloyd SE.
Hum Mol Genet 2014

Frontotemporal dementia and its subtypes: a genome wide association study
Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JBJ, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L,Thompson E, Haan E, Hernández I, Ruiz A, Boada M, Borroni B, Padovani A,Cruchaga C, Cairns NJ, Benussi L, Bineetti G, Ghidoni R, Forloni G, Galimberti D, Fenoglio C, Serpente M, Scarpini E, Clarimón J, Lleó A, Blesa R, Landqvist WaldöM, Nilsson K, Nillson C, Mackenzie IRA, Hsuing G-YR, Mann DMA, Grafman J,Morris CM, Attems J, Griffiths TD, McKeith IG, Thomas AJ, Pietrini P, Huey ED,Wassermann EM, Baborie A, Jaros E, Tierney MC, Pastor P, Razquin C, Ortega-Cubero S, Alonso E, Perneczky R, Diehl-Schmid J, Alexopoulos P, Kurz A, Rainer I,Rubino E, Pinessi L, Rogaeva E, St George-Hyslop P, Rossi G, Tagliavini F,Giaccone G, Rowe JB, Schlachetzki JCM, Uphill J, Collinge J, Mead S, Danek A, VanDeerlin VM, Grossman M, Trojanowski JQ, van der Zee J, Deschamp W, VanLangenhove T, Cruts M, Van Broeckhoven C, The Belgian Neurology Consortium and the European Early-Onset Dementia consortium, Cappa SF, Le Ber I, Hannequin D, Golfier V, Vercelletto M, Brice A, The French research network on FTLD/FTLD-ALS, Nacmias B, Sorbi S, Bagnoli S, Piaceri I, Nielsen JE, Hjermind LE, Riemenschneider M, Mayhaus M, Ibach B, Gasparoni G, Pilcher S, Gu W, RossorMN, Fox NC, Warren JD, Spillantini MG, Morris HR, Rizzu P Heutink P, Snowden JS, Rollinson S, Richardson A, Gerhard A, Bruni AC, Maletta R, Frangipane F, Cupidi C, Bernadi L, Anfossi M, Gallo M , Conidi ME, Smirne N, Rademakers R, Baker M, Dickson DW, Graff-Radford NR, Petersen RC, Knopman D, Joseph KA, Boeve BF, Parisi JE, Seeley WW, Miller BL, Karydas AM, Rosen H, Van Swieten JC, Dopper EGP, Seelaar H, Pijnenburg YAL, Scheltens P, Logroscino G, Capozzo R, Novelli V, Puca AA, Franceschi M, Postiglione A, Milan G, Sorrentino P, Kristiansen M, Chiang HH, Graff C, Pasquier F, Rollin A, Deramecourt V, Lebert F, Kapogiannis D, Uk Brain Expression Consortium, North America Brain Expression Consortium, Ferrucci L, Pickering-Brown S, Hardy J, Momeni P, Singleton AB. Lancet 2014; 13: 686-99.

Administration of a Humanized Anti-PrP Antibody Blocks Alzheimer's Disease Aβ Synaptotoxicity
Klyubin I, Nicoll AJ, Khalili-Shirazi A, Farmer M, Canning S, Mably A, Linehan J, Brown A, Wakeling M, Brandner S, Walsh DM, Rowan MJ, Collinge J. Peripheral. J Neurosci 2014; 34: 6140-5.

Predictive testing for inherited prion disease: report of 22 years experience
Owen J, Beck J, Campbell T, Adamson G, Gorham M, Thompson A, Smithson S, Rosser E, Rudge P, Collinge J, Mead S.  Eur J Hum Genet 2014

Blood test for variant Creutzfeldt-Jakob Disease – reply
Jackson GS, Burk-Rafel J, Mead S, Collinge J. JAMA Neurol 2014: 71(8):1054-5.

Population Screening for Variant Creutzfeldt-Jakob Disease Using a Novel Blood Test: Diagnostic Accuracy and Feasibility Study
Jackson G, Burk-Rafel J, Edgeworth J, Sicilia A, Abdilahi S, Korteweg J, Mackey J, Thomas C, Wang G, Schott J, Mummery C, Chinnery P, Mead S, Collinge J. JAMA Neurol 2014; 71: 421-8.

Identification of a gene regulatory network associated with prion replication
Marbiah M, Harvey A, West BT, Louzolo A, Banerjee P, Alden J, Grigoriadis A, Hummerich H, Kan HM, Cai Y, Bloom GS, Jat P, Collinge J, Klöhn PC. EMBO J 2014

Microglial Cx3cr1 knockout reduces prion disease incubation time in mice.
Grizenkova J, Akhtar S, Brandner S, Collinge J, Lloyd SE. BMC Neurosci 2014; 15:44.

A highly specific blood test for vCJD
Jackson GS, Burk-Rafel J, Edgeworth JA, Sicilia A, Abdilahi S, Korteweg J, Mackey J, Thomas C, Wang G, Mead S, Collinge J. Blood 2014; 123: 452-3.

mGlu5 receptors and cellular prion protein mediate amyloid-β facilitation of synaptic long-term depression in vivo
Hu NW, Nicoll A, Zhang D, Mably A, O'Malley T, Purro S, Terry C, Collinge J, Walsh D, and Rowan M. Nat Commun 2014; 5: 3374.

Behavioural and psychiatric symptoms in Prion disease
Thompson A, MacKay A, Rudge P, Lukic A, Porter MC, Lowe J, Collinge J, Mead S. Amer J
Psychiatry 2014;171: 265-74.

Variant Creutzfeldt-Jakob disease with extremely low lymphoreticular deposition of prion protein
Mead S, Wadsworth JDF, Porter MC, Linehan J, Pietkiewicz W, Jackson GS, Brandner S, Collinge J.  JAMA Neurol 2014; 71: 340-3.

HTT-lowering reverses Huntington's disease immune dysfunction caused by NFκB pathway dysregulation
Träger U, Andre R, Lahiri N, Magnusson-Lind A, Weiss A, Grueninger S, McKinnon
C, Sirinathsinghji E, Kahlon S, Pfister EL, Moser R, Hummerich H, Antoniou M, Bates GP, Luthi-Carter R, Lowdell MW, Björkqvist M, Ostroff GR, Aronin N, Tabrizi SJ. Brain 2014; 137: 819-33 

Profiles of white matter tract pathology in frontotemporal dementia
Mahoney CJ, Ridgway GR, Malone IB, Downey LE, Beck J, Kinnunen KM, Schmitz N,Golden HL, Rohrer JD, Schott JM, Rossor MN, Ourselin S, Mead S, Fox NC, Warren JD. Hum Brain Mapp. 2014 Aug;35(8):4163-79. doi: 10.1002/hbm.22468. Epub 2014 Feb 7 

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions
Gallagher MD, Suh E, Grossman M, Elman L, McCluskey L, Van Swieten JC, Al- Sarraj S, Neumann M, Gelpi E, Ghetti B, Rohrer JD, Halliday G, Van Broeckhoven C, Seilhean D, Shaw PJ, Frosch MP, Alafuzoff I, Antonell A, Bogdanovic N, Brooks W, Cairns NJ, Cooper-Knock J, Cotman C, Cras P, Cruts M, De Deyn PP, DeCarli C, Dobson-Stone C, Engelborghs S, Fox N, Galasko D, Gearing M, Gijselinck I, Grafman J, Hartikainen P, Hatanpaa KJ, Highley JR, Hodges J, Hulette C, Ince PG, Jin LW, Kirby J, Kofler J, Kril J, Kwok JB, Levey A, Lieberman A, Llado A, Martin JJ, Masliah E, McDermott CJ, McKee A, McLean C, Mead S, Miller CA, Miller J, Munoz DG, Murrell J, Paulson H, Piguet O, Rossor M, Sanchez-Valle R, Sano M, Schneider J, Silbert LC, Spina S, van der Zee J, Van Langenhove T, Warren J, Wharton SB, White CL 3rd, Woltjer RL, Trojanowski JQ, Lee VM, Van Deerlin V, Chen-Plotkin AS. Acta Neuropathol 2014; 127: 407-18.

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 2014; 35: 261-5.

Cardiovascular disease contributes to Alzheimer's disease: evidence from large-scale genome-wide association studies
Liu G, Yao L, Liu J, Jiang Y, Ma G; Genetic and Environmental Risk for Alzheimer's disease (GERAD1) Consortium, Chen Z, Zhao B, Li K.  Neurobiol Aging 2014; 35: 786-92.

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
Hensman Moss DJ, Poulter M, Beck J, Hehir J, Polke JM, Campbell T, Adamson G, Mudanohwo E, McColgan P, Haworth A, Wild EJ, Sweeney MG, Houlden H, Mead S, Tabrizi SJ. Neurology 2014; 82: 292-9.

A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia
Lashley T, Rohrer JD, Mahoney C, Gordon E, Beck J, Mead S, Warren J, Rossor M, Revesz T. 
Neuropathol Appl Neurobiol 2014; 40: 5002-13.