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MRC Prion Unit
From fundamental research to prevention and cure
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Human molecular genetics of Prion and related dementias

The MRC Prion Unit Human Genetics Group investigates why some people, but not others, get prion diseases such as Creutzfeldt-Jakob disease (CJD). We know that variant CJD (vCJD) was caused by human transmission of BSE (bovine spongiform encephalopathy or mad cow disease), a prion disease of cattle. Other people develop a prion disease spontaneously as they get older (called sporadic CJD) while others are accidentally infected with prions as a result of medical or surgical procedures (since prions stick to metal instruments, are very resistant to sterilisation and can also be passed in blood transfusions). By comparing genetic differences between people who developed CJD and healthy people we hope to identify genes that influence why particular people are more susceptible to these diseases, and use this information to better estimate public health risks and to develop new tests and treatments. We also know that the fundamental processes involved in CJD, where one of the body's own proteins becomes misshapen and then forms large clumps of material, are very relevant to other much commoner diseases such as Alzheimer's Disease. We hope therefore that what we learn from studying CJD in this way will have much wider relevance in helping to reduce the burden of degenerative brain diseases which are becoming ever commoner as the average age of the population increases.

A distinct but important component of our work is the diagnosis of inherited prion diseases. Unit scientists in 1989 discovered mutations in the prion protein gene (PRNP) in families with inherited dementias (subsequently termed inherited prion diseases), at the time the first gene to be linked with an inherited neurodegenerative disease (see figure). We have continued to work with families through the National Prion Clinic, generating very large pedigrees that share mutations in PRNP, and documenting a remarkable diversity in the age and symptoms of patients with prion disease caused by the same mutation. We hope to find genetic or other influences that modify the age at which the disease starts, and providing better information for neurologists and families at risk of inheriting mutations.

Polymorphic Variants

Strong genetic susceptibility to prion disease has been demonstrated in animals and humans. There is familial aggregation of sCJD with other causes of dementia. Given the rarity of prion disease and that ascertainment of prion disease in life is known to be poor, this familial aggregation may belie a marked increased risk of prion disease for first degree relatives. The very strong and common genetic risk factor at codon 129, between methionine (60% allele frequency) and valine is an important precedent for our work. All confirmed vCJD cases are methionine homozygous, representing the strongest association of a common genotype with any disease. Homozygous genotypes at codon 129 also strongly associate with sCJD, with iatrogenic CJD and early age of onset of inherited prion disease (IPD) and kuru, an epidemic prion disease of the Fore linguistic group of Papua New Guinea. Codon 129 heterozygosity strongly associates with long-term survival after exposure to kuru prions, with long incubation time in kuru patients, and late clinical onset of IPD. An understanding of susceptibility conferred by PRNP codon 129 has had a major impact on prion biology.

Evidence in support of the involvement of non- PRNP genetic factors comes in part from work with laboratory inbred mouse strains, detailed in this group’s section. A small number (~5) of quantitative trait loci (QTL) responsible for determining incubation time following intra-cerebral inoculation with prions have been mapped by the MRC Prion Unit and others using different crossing strategies and prion strains. Collectively in mouse, Prnp and non-Prnp genetic factors contribute approximately equally to the incubation time trait variance. The genes responsible for these QTLs have not yet been identified. The integration of unbiased genome-wide strategies in mouse and human prion disease will be an important in the success of both programs. Our discovery research utilises recently available genome-wide genotyping technologies. We have successfully conducted a pilot genome-wide association study with EA-Affymetrix 500K arrays (Mead et al. Lancet Neurology 2009, see figure). In this exploratory case-control study we compared 119 vCJD samples with 90 matched UK controls. The necessary molecular genetic, bioinformatic, and statistical genetic expertise for genome-wide association study is either available in the Unit or through collaboration. Over the next few years we expect to develop our discovery genome-wide association research in larger patient cohorts using more advanced genotyping technologies, and focus on developing cellular and animal models to test the genes identified in our discovery research.

Human Genetics Figure 2

Our research has generated important findings in the genetic epidemiology of kuru, with implications for the way that the prion protein gene may evolve in human populations. Kuru was a devastating epidemic prion disease affecting a highly geographically restricted area of the Papua New Guinea highlands which, at its peak, predominantly affected adult women and children of both sexes. Its incidence has steadily declined since the cessation of its route of transmission, endocannibalism, in the late 1950s.

We have demonstrated that kuru-exposed survivors show marked Hardy-Weinberg disequilibrium at polymorphic codon 129 of the prion protein gene (PRNP), consistent with the known protective effect of PRNP codon 129 heterozygosity. Whether kuru-like epidemics were not unique in the pre-history of multiple populations was a provocative and controversial speculation derived from this work.

Reviews:

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.

Genetics of prion disease
Lloyd S, Mead S, Collinge J.  Top Curr Chem 2011; 305: 1-22.

How does the genetic assassin select its neuronal target?
Stevens JC, Fisher EM, Mead S.  Mamm Genome 2011; 22: 139-47.

Genome wide association studies and prion disease
Lukic A, Mead S. Prion 2011; 5: 154-60.

 

Prion diseases
Kaski D, Mead S. Medicine 2010;.37: 579-581.


Peer reviewed articles:
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.

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.

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.

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.

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

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

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

 

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.

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.

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.

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.

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.

The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues
Woollacott IO, Mead S.  Acta Neuropathol 2014; 127: 319-32.

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

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.

 

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.

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.

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.

2013

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.

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.

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.

 

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.

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.

 

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.

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.

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

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.

 

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.

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.

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.

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.

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.

2012

 

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.

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.

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.

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.

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

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: 696-709.

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.e5-18.

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.

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.

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.

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.

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.

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.

Genomewide 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.

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.

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

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.

 

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.

 

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.

2011

PRION-1 scales analysis supports use of functional outcome measures in prion disease
Mead S, Ranopa M, Gopalakrishnan GS, Thompson A, Rudge P, Wroe S, Kennedy A, Hudson F, Mackay A, Darbyshire J, Collinge J, Walker S.  Neurology 2011; 77: 1674-83.

 

Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration
Rohrer JD, Lashley T, Schott JM, Warren JE, Mead S, Isaacs AM, Beck J, Hardy J, de Silva R, Warrington E, Troakes C, Al-Sarraj S, King A, Borroni B, Clarkson MJ, Ourselin S, Holton JL, Fox NC, Revesz T, Rossor MN, Warren JD. Brain 2011; 134: 2565-81.

No evidence that extended tracts of homozygosity are associated with Alzheimer's disease.
Sims R, Dwyer S, Harold D, Gerrish A, Hollingworth P, Chapman J, Jones N, Abraham R, Ivanov D, Pahwa JS, Moskvina V, Dowzell K, Thomas C, Stretton A, 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, McGuiness 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, Livingston G, Bass NJ, Gurling H, McQuillin A, Jones L, Holmans PA, O'Donovan M, Owen MJ, Williams J.  Am J Med Genet B Neuropsychiatr Genet 2011; 156B: 764-71.

Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors
Kaski DN, Pennington C, Beck J, Poulter M, Uphill J, Bishop MT, Linehan JM, O'Malley C, Wadsworth JDF, Joiner S, Knight RSG, Ironside JW, Brandner S, Collinge J, Mead S.  Brain 2011; 134: 1829-1838.

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Jones N, Stretton A, Thomas C, Richards A, Ivanov D, Widdowson C, Chapman J, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Beaumont H, Warden D, Wilcock G, Love S, Kehoe PG, Hooper NM, Vardy ER, Hardy J, Mead S, Fox NC, Rossor M, Collinge J, Maier W, Jessen F, Rüther E, Schürmann B, Heun R, Kölsch H, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Gallacher J, Hüll M, Rujescu D, Giegling I, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Pankratz VS, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Dickson DW, Graff-Radford NR, Petersen RC; the Alzheimer's Disease Neuroimaging Initiative, van Duijn CM, Breteler MM, Ikram MA, Destefano AL, Fitzpatrick AL, Lopez O, Launer LJ, Seshadri S; CHARGE consortium, Berr C, Campion D, Epelbaum J, Dartigues JF, Tzourio C, Alpérovitch A, Lathrop M; EADI1 consortium, Feulner TM, Friedrich P, Riehle C, Krawczak M, Schreiber S, Mayhaus M, Nicolhaus S, Wagenpfeil S, Steinberg S, Stefansson H, Stefansson K, Snædal J, Björnsson S, Jonsson PV, Chouraki V, Genier-Boley B, Hiltunen M, Soininen H, Combarros O, Zelenika D, Delepine M, Bullido MJ, Pasquier F, Mateo I, Frank-Garcia A, Porcellini E, Hanon O, Coto E, Alvarez V, Bosco P, Siciliano G, Mancuso M, Panza F, Solfrizzi V, Nacmias B, Sorbi S, Bossù P, Piccardi P, Arosio B, Annoni G, Seripa D, Pilotto A, Scarpini E, Galimberti D, Brice A, Hannequin D, Licastro F, Jones L, Holmans PA, Jonsson T, Riemenschneider M, Morgan K, Younkin SG, Owen MJ, O'Donovan M, Amouyel P, Williams J.  Nat Genet 2011; 43: 429-435.

A novel exon 2 VCP variant is associated with dissimilar clinical :syndromes.
Rohrer JD, Warren JD, Reiman D, Uphill J, Beck J, Collinge J, Rossor MN, Isaacs AM, Mead S.
J Neurol 2011; 258: 1494-6.

Detection of prion infection in variant Creutzfeldt-Jakob disease: a blood-based assay.
Edgeworth JA, Farmer M, Sicilia A, Tavares P, Beck J, Campbell T, Lowe J, Mead S, Rudge P, Collinge J, Jackson GS. Lancet 2011; 377: 487-93.

Comment on validation of diagnostic criteria for variant Creutzfeldt-Jakob disease
Lukic A, Mead S, Rudge P, Collinge J.  Ann Neurol 2011; 69: 212.

Activation of nuclear factor-kappa B signalling promotes cellular senescence
Rovillain E, Mansfield L, Caetano C, Alvarez-Fernandez M, Caballero OL, Medema  RH, Hummerich H, Jat PS.Oncogene 2011; 30: 2356-66.

Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina
Sergouniotis PI, Davidson AE, Mackay DS, Lenassi E, Li Z, Robson AG, Yang X, Kam JH, Isaacs TW, Holder GE, Jeffery G, Beck JA, Moore AT, Plagnol V, Webster AR.  Am J Hum Genet 2011; 89: 782-91.

No association of PGRN 3'UTR rs5848 in frontotemporal lobar degeneration.
Rollinson S, Rohrer JD, van der Zee J, Sleegers K, Mead S, Engelborghs S, Collinge J, De Deyn P, Mann D, Van Broeckhoven C, Pickering-Brown S. Neurobiol Aging 2011; 32: 754-5.

Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis.
Rollinson S, Mead S, Snowden J, Richardson A, Rohrer J, Halliwell N, Usher S, Neary D, Mann D, Hardy J, Pickering-Brown S. Neurobiol Aging 2011; 32: 758.e1-7.

prions and Aβ: the triad of neurodegeneration
Reiniger L, Lukic A, Linehan J, Rudge P, Collinge J, Mead S, Brandner S. Tau,  Acta Neuropathol 2011; 121: 5- 20.

Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease
Jones L, Holmans PA, Hamshere ML, Harold D, Moskvina V, Ivanov D, Pocklington A, Abraham R, Hollingworth P, Sims R, Gerrish A, Pahwa JS, Jones N, 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, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, Heun R, Kölsch H, van den Bussche H, Heuser I, Peters O, 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, Al-Chalabi A, Shaw CE, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Rüther E, Carrasquillo MM, Pankratz VS, Younkin SG, Hardy J, O'Donovan MC, Owen MJ, Williams J. PLoS One 2010; 5: e13950. Erratum in: PLoS One 2011; 6.

Alzheimer's disease and inherited prion disease in the UK are poorly ascertained
Stevens JC, Beck J, Lukic A, Ryan N, Abbs S, Collinge J, Fox NC, Mead S. Familial . J Neurol Neurosurg Psychiatry 2011; 82: 1054-7.

2010

 

Magnetization transfer ratio may be a surrogate of spongiform change in human prion diseases
Siddique D, Hyare H, Wroe S, Webb T, Macfarlane R, Rudge P, Collinge J, Powell C, Brandner S, So PW, Walker S, Mead S, Yousry T, Thornton JS.  Brain 2010; 133: 3058-68.

Variant or sporadic Creutzfeldt-Jakob disease?
Mead S, Hyare H, Collinge J, Rudge P. Lancet 2010; 375: 889; author reply 889-90.

Heterozygosity at polymorphic codon 219 in variant Creutzfeldt-Jakob disease.
Lukic A, Beck JA, Joiner S, Fearnley J, Sturman S, Brandner S, Wadsworth JDF, Collinge J, Mead S.  Arch Neurol 2010; 67: 1021-3.

 

PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit
Beck JA, Poulter M, Campbell TA, Adamson G, Uphill JB, Guerreiro R, Stephens JC, Jackson GS, Manji H, Collinge J, Mead S.  Hum Mut 2010; 31: E1551- 63.

Progressive logopenic/phonological aphasia: Erosion of the language network
Rohrer JD, Ridgway GR, Crutch SJ, Hailstone J, Goll JC, Clarkson MJ, Mead S, Beck J, Mummery C, Ourselin S, Warrington EK, Rossor MN, Warren JD NeuroImage 49 (2010) Jan 1; 984–993.

Brain-water diffusion coefficients reflect the severity of inherited prion disease
Hyare H, Wroe SJ, Siddique D, Stevens J, Webb T, Fox N, Collinge J, Yousry T, Thornton J.
Neurology 2010; 74: 658-65.

A Copine family member, Cpne8, is a candidate quantitative trait gene for prion disease incubation time in mouse
Lloyd SE, Maytham EG, Grizenkova J, Hummerich H, Collinge J. Neurogenetics 2010; 11: 185-91.

 

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration
Urwin H, Josephs KA, Rohrer JD, Authier A, Neumann M, Mackenzie IR, Seelaar H, Van Swieten JC, Brown JM, Johannsen P, Nielsen JE, Holm IE, The FReJA Consortium, Dickson DW, Rademakers R, Graff-Radford NR, Parisi JE, Petersen RC, Hatanpaa KJ, White III CL, Weiner MF, Van Deerlin VM, Trojanowski JQ, Miller BL, van der Zee J, Kumar-Singh S, Van Broeckhoven C, Bigio EH, Halliday GM, Kril JJ, Munoz DG, Mann DM, Pickering-Brown SM, Uphill J, Ghazi-Noori S, Fisher EMC, Holton JL, Revesz T, Rossor MN, Collinge J, Mead S. Isaacs AM.  Acta Neuropathol 2010; 120: 33-41.

Genetic variability in CLU and its association with Alzheimer's disease
Guerreiro RJ, Beck J, Gibbs JR, Santana I, Rossor MN, Schott JM, Nalls MA, Ribeiro H, Santiago B, Fox NC, Oliveira C, Collinge J, Mead S, Singleton A, Hardy J.  PLoS One 2010; 5: e9510.

Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations
Rohrer JD, Ridgway GR, Modat M, Ourselin S, Mead S, Fox NC, Rossor MN, Warren JD Neuroimage 49 2010 Jan 4.

 

High-b-value diffusion mr imaging and basal nuclei apparent diffusion coefficient measurements in variant and sporadic Creutzfeldt-Jakob disease
Hyare H, Thornton J, Stevens J, Mead S, Rudge P, Collinge J, Yousry TA, Jäger HR.  Amer J Neuroradiol 2010; 31: 521-6.

PAW35 Anti-prion protein monoclonal antibodies at low doses effectively treat prion disease in mice without side-effects
Carswell C, Khalili-Shirazi A, Brandner S, Martins S, Drynda R, Collinge J, Mead S, Clarke A.
J Neurol Neurosurg Psychiatry 2010; 81: e33.

2009

 

A novel protective prion protein variant co-localises with kuru exposure
Mead S, Whitfield J, Poulter M, Shah P, Uphill J, Campbell T, Al-Doujaily H, Hummerich H, Beck J, Mein C, Verzilli C, Whittaker J, Alpers M, Collinge J. N Engl J Med 2009; 361: 2056-65.

Variant CJD in an individual heterozygous for PRNP codon 129
Kaski D, Mead S, Hyare H, Cooper S, Jampana R, Overell J, Knight R, Collinge J, Rudge P.  Lancet 2009; 374: 2128.

The heritability and genetics of frontotemporal lobar degeneration
Rohrer JD, Guerreiro R, Vandrovcova J, Uphill J, Reiman D, Beck J, Isaacs AM, Authier A, Ferrari R, Fox NC, Mackenzie IR, Warren JD, de Silva R, Holton J, Revesz T, Hardy J, Mead S, Rossor MN. Neurology 2009; 73: 1451-6.

HECTD2, a candidate susceptibility gene for Alzheimer's disease on 10q.
Lloyd SE, Rossor M, Fox N, Mead S, Collinge J.  BMC Med Genet 2009; 10: 90.

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere M, Singh Pahwa J, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan A, Lovestone S, Powell J, Priotsi P, Brayne C, Rubinzstein D, Gill M, Lawlor B, Morgan K, Brown K, Passmore P, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith D, Lehmann D, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Nöthen M, Maier W, Jessen F, Schürmann B, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Goate A, Kauwe JSK, Cruchaga C, Nowotny P, Morris JC, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, van Broeckhoven C, Bettens K, Sleegers K, Singleton A, Guerreiro R, Muehlesien T, Moebus S, Jöckel KH, Klopp N, Wichmann H, Younkin S, Carrasquillo M, Pankratz S, Holmans P, O’Donovan M, Owen MJ, Williams J.  Nat Genet 2009; 41: 1088-93.

Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration
Rollinson S, Rizzu P, Sikkink S, Baker M, Halliwell N, Snowden J, Traynor BJ, Ruano D, Cairns N, Rohrer JD, Mead S, Collinge J, Rossor M, Akay E, Guerreiro R, Rademakers R, Morrison KE, Pastor P, Alonso E, Martinez-Lage P, Graff-Radford N, Neary D, Heutink P, Mann DM, Van Swieten J, Pickering-Brown SM.  Neurobiol Aging 2009; 30: 656-65

HECTD2 is associated with susceptibility to mouse and human prion disease
Lloyd SE, Maytham EG, Pota H, Grizenkova J, Molou E, Uphill J, Hummerich H, Whitfield J, Alpers MP, Mead S, Collinge J.
PLoS Genet 2009; 5:

 

Seven year discordance in age at onset in monozygotic twins with inherited prion disease (P102L)
Webb T, Mead S, Beck J, Uphill J, Pal S, Hampson S, Wadsworth JD, Mena ID, O'Malley C, Brandner S, Schapira A, Wroe S, Collinge J.  Neuropathol Appl Neurobiol 2009; 35: 427-32.

 

Clinical trials and methodological problems in prion diseases - Authors' reply
Mead S, Rudge P, Hudson F, Walker S, Darbyshire J, Collinge J; for the PRION-1 investigators.
Lancet Neurol 2009; 8: 782-783.

Age of onset and death in inherited prion disease are heritable
Webb TE, Whittaker J, Collinge J, Mead S. Am J Med Genet B Neuropsychiatr Genet. 2009; 5: 496-501


Book chapters:

Rossor M, Collinge J, Fox N, Mead S, Mummery C, Schott J, Warren J. In: Clarke, Howard, Rossor, Shorvon eds. Neurology: A Queen Square Textbook. Wiley- Blackwell, 2014, in press.

Mead S, Rudge P and Collinge J. In: Schott J, Hussain M, Oxford Textbook of Clinical Neurology: Cognitive Neurology and Dementia, Oxford University Press, 2014, in press.

Mead S, Collinge J. Prion disease. In: Wood N, ed. Neurogenetics: A Guide for Clinicians.
Cambridge University Press, Cambridge, 2012; 103-120.

Mead S, Rudge P. Prion Diseases. In: Hardiman O, Doherty C. Neurodegenerative Diseases: a Clinical Guide. Springer, 2010; 197-224.

Lahiri N, Mead S and Tabrizi SJ. Chorea in Prion Diseases. In: Walker R ed, The Differential Diagnosis of Chorea, 1st edn.
Oxford University Press, 2010.

Mead S, Tabrizi SJ, Collinge J. Prion diseases of humans and animals. In: Cohen J, Powderley WG, eds. Infectious Diseases, 4th edn.
Mosby, 2009.