[Skip to content]

MRC Prion Unit
From fundamental research to prevention and cure
.

2016 Publications

Mammalian prions and their wider relevance in neurodegenerative diseases 
Collinge J. Nature. 2016 Nov 10; 539(7628):217-226. doi: 10.1038/nature20415.  

Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases. 
Ferrari R, Wang Y, Vandrovcova J, Guelfi S, Witeolar A, Karch CM, Schork AJ, Fan CC, Brewer JB; International FTD-Genomics Consortium (IFGC); International Parkinson's Disease Genomics Consortium (IPDGC),; International Genomics of Alzheimer's Project (IGAP),, Momeni P, Schellenberg GD, Dillon WP, Sugrue LP, Hess CP, Yokoyama JS, Bonham LW, Rabinovici GD, Miller BL, Andreassen OA, Dale AM, Hardy J, Desikan RS. . J Neurol Neurosurg Psychiatry. 2017 Feb; 88(2):152-164. doi: 10.1136/jnnp-2016-314411. Epub 2016 Nov 29.

Pathologically confirmed variant CJD in a prion protein gene codon 129 heterozygous patient. 
Tze How Mok, Zane Jaunmuktane, Susan Joiner, Tracy Campbell, Catherine Morgan, Benjamin Wakerley, Farhad Golestani, Peter Rudge, Simon Mead, Hans Rolf Jäger,  Jonathan D F Wadsworth, Sebastian Brandner, John Collinge  NEJM In Press Nov 2016

Structural Variation in Amyloid-β Fibrils from Alzheimer's Disease Clinical Subtypes 
Qiang W, Yau W-M, Lu J-X, Collinge J & Tycko R. Nature. Nov 2016 in press doi:10.1038/nature20814

Evolution of Diffusion-Weighted Magnetic Resonance Imaging Signal Abnormality in Sporadic Creutzfeldt-Jakob Disease, With Histopathological Correlation. Eisenmenger L, Porter MC, Carswell CJ, Thompson A, Mead S, Rudge P, Collinge J, Brandner S, Jäger HR, Hyare H.

Evidence for human transmission of amyloid-β pathology and cerebral amyloid angiopathy  Zane Jaunmuktane, Simon Mead, Matthew Ellis, Jonathan D. F. Wadsworth, Andrew J. Nicoll, Joanna Kenny, Francesca Launchbury, Jacqueline Linehan, Angela Richard-Loendt, A. Sarah Walker, Peter Rudge, John Collinge & Sebastian Brandner

Dementia and Cognitive Impairment M Rossor, J Collinge, N Fox, S Mead, C Mummery, J Rohrer, J Schott, Neurology: A Queen Square Textbook, 289-336

CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia. Samir Abdelkarim, Sarah Morgan, Vincent Plagnol, Ching-Hua Lu, Gary Adamson, Robin Howard, Andrea Malaspina, Richard Orrell, Nikhil Sharma, Katie Sidle, Jan Clarke, Nick C. Fox, Martin N. Rossor, Jason D. Warren, Camilla N. Clark, Jonathan D. Rohrer, Elizabeth M. C. Fisher, Simon Mead, Alan Pittman, Pietro FrattaBrain 139 (2), e9-e9 5

Prevalence, characteristics, and survival of frontotemporal lobar degeneration syndromes Coyle-Gilchrist IT, Dick KM, Patterson K, Vázquez Rodríquez P, Wehmann E, Wilcox A, Lansdall CJ, Dawson KE, Wiggins J, Mead S, Brayne C, Rowe JB. Neurology 86 (18), 1736-1743

Serum neurofilament light chain protein is a measure of disease intensity in frontotemporal dementia Jonathan D Rohrer, Ione OC Woollacott, Katrina M Dick, Emilie Brotherhood, Elizabeth Gordon, Alexander Fellows, Jamie Toombs, Ronald Druyeh, M Jorge Cardoso, Sebastien Ourselin, Jennifer M Nicholas, Niklas Norgren, Simon Mead, Ulf Andreasson, Kaj Blennow, Jonathan M Schott, Nick C Fox, Jason D Warren, Henrik Zetterberg Journal of Neurochemistry 138, 383-383

Probing FTD genetics with a next-generation sequencing gene panel Koriath C, Adamson G, Druyeh R, Kenny J, Rossor M, Schott J, Mummery C, Fox N, Warren J, Collinge J, Rohrer J, Mead S, Journal of Neurochemistry 138, 320-320

TMEM106B polymorphism is associated with lower cortical volumes in a clinically diagnosed FTD cohort SR Harding, M Bocchetta, E Gordon, DM Cash, MJ Cardoso, G Adamson, Journal of Neurochemistry 138, 315-315

Use of Diffusion-Weighted Magnetic Resonance Imaging in Sporadic Creutzfeldt-Jakob Disease—Reply Laura Eisenmenger, MD; Simon Mead, PhD; Harpreet Hyare, PhD JAMA neurology 73 (9), 1154-1154

Serum neurofilament light chain protein is a measure of disease intensity in frontotemporal dementia. Rohrer JD, Woollacott IO, Dick KM, Brotherhood E, Gordon E, Fellows A, Toombs J, Druyeh R, Cardoso MJ, Ourselin S, Nicholas JM, Norgren N, Mead S, Andreasson U, Blennow K, Schott JM, Fox NC, Warren JD, Zetterberg H. Neurology 87 (13), 1329-1336 2 2016

Diagnosing Sporadic Creutzfeldt-Jakob Disease by the Detection of Abnormal Prion Protein in Patient Urine. Luk C, Jones S, Thomas C, Fox NC, Mok TH, Mead S, Collinge J, Jackson GS.JAMA Neurol. 2016 Oct 3. doi: 10.1001/jamaneurol.2016.3733. PubMed PMID: 27699415.

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series. Ryan NS, Nicholas JM, Weston PS, Liang Y, Lashley T, Guerreiro R, Adamson G, Kenny J, Beck J, Chavez-Gutierrez L, de Strooper B, Revesz T, Holton J, Mead S, Rossor MN, Fox NC. The Lancet Neurology 2 2016

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation Bras J, Djaldetti R, Alves AM, Mead S, Darwent L, Lleo A, Molinuevo JL, Blesa R, Singleton A, Hardy J, Clarimon J, Guerreiro R. Neurobiology of Aging 46, 236. e1-236. e6

Clinical Trial Simulations Based on Genetic Stratification and the Natural History of a Functional Outcome Measure in Creutzfeldt-Jakob Disease Mead S, Burnell M, Lowe J, Thompson A, Lukic A, Porter MC, Carswell C, Kaski D, Kenny J, Mok TH, Bjurstrom N, Franko E, Gorham M, Druyeh R, Wadsworth JD, Jaunmuktane Z, Brandner S, Hyare H, Rudge P, Walker AS, Collinge J. Jama Neurol. 2016 doi: 10.1001/jamaneurol.2015.4885.

Genetic risk factors for the posterior cortical atrophy variant of Alzheimer’s disease.
Schott JM, Crutch SJ, Carrasquillo MM, Uphill J, Shakespeare TJ, Ryan NS, Yong KX, Lehmann M, Ertekin-Taner N, Graff-Radford NR, Boeve BF, Murray ME, Khan QU, Petersen RC, Dickson DW, Knopman DS, Rabinovici GD, Miller BL, Gonzalez AS, Gil-Néciga E, Snowden JS, Harris J, Pickering-Brown SM, Louwersheimer E, van der Flier WM, Scheltens P, Pijnenburg YA, Galasko D, Sarazin M, Dubois B, Magnin E, Galimberti D, Scarpini E, Cappa SF, Hodges JR, Halliday GM, Bartley L, Carrillo MC, Bras JT, Hardy J, Rossor MN, Collinge J, Fox NC, Mead S.    Alzheimers Dement. 2016 pii: S1552-5260(16)00077-7. doi: 10.1016/j.jalz.2016.01.010.

Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study. Balendra R, Uphill J, Collinson C, Druyeh R, Adamson G, Hummerich H, Zerr I, Gambetti P, Collinge J, Mead S. BMC Med Genet. 2016; 17(1):28. doi: 10.1186/s12881-016-0278-2

Ex vivo mammalian prions are formed of paired double helical prion protein fibrils. Terry C, Wenborn A, Gros N, Sells J, Joiner S, Hosszu LLP, Tattum H, Panico S,  Clare DK, Collinge J, Saibil HR, Wadsworth JDF. Ex vivo mammalian prions are formed of paired double helical prion protein fibrils.  Open Biol. 2016: 160035

Physical, chemical and kinetic factors affecting prion infectivity.  Properzi F, Badhan A, Klier S, Schmidt C, Klöhn PC, Wadsworth JDF, Clarke AR, Jackson GS, Collinge J.  Prion 2016; doi: 10.1080/19336896.2016.1181250

Quantitative EEG parameters correlate with the progression of human prion diseases.
Franko E, Wehner T, Joly O, Lowe J, Porter MC, Kenny J, Thompson A, Rudge P, Collinge J, Mead S. J Neurol Neurosurg Psychiatry 2016: 313501; doi:10.1136/jnnp-2016-313501

Collinge et al. reply. Collinge J, Jaunmuktane Z, Mead S, Rudge P, Brandner S. Nature 2016;535(7611):E2-3.

Evolutionary conservation and divergence of the activity-dependent transcriptome Qiu, J., McQueen, J., Bilican, B., Dando, O., Haghi, G., Cezard, T., Burr, K., Patani, R., Rajan, R., Sheppard, O., Kind, P.C., Simpson, I., Tybulewicz, V.L.J., Wyllie, D.J.A., Gharbi, K., Fisher, E.M.C., Chandran, S., Hardingham, G.E.  In Press eLife

Fully-automated µMRI morphometric phenotyping of the Tc1 model of Down syndrome. Powell, N.M., Modat, M., Cardoso, M.J., Ma, D., Holmes, H.E., Yu, Y., O'Callaghan, J., Cleary, J.O., Sinclair, B., Wiseman, F.K.,Tybulewicz, V.L.J., Fisher, E.M.C., Lythgoe, M.F., Ourselin, S. (2016) PLoS ONE 11(9): e0162974. doi:10.1371/journal. pone.0162974.

A syntenic cross species aneuploidy genetic screen links RCAN1 expression to β-cell mitochondrial dysfunction in Type 2 diabetes  Peiris, H., Duffield, M.D., Fadista, J., Jessup, C.F., Kashmir, V., Genders, A.J., McGee, S.L., Martin, A.M., Saeidi, M., Morton, N., Cousin, M.A., Carter, R., Kontos, A.C., Oskolkov, N., Volkov, P., Hough, T.A., Fisher, E.M.C., Tybulewicz, V.L.J., Busciglio, J., Coskun, P.E., Becker, A., Belichenko, P.V., Mobley, W.C., Ryan, M.T., Chan J.Y., Laybutt, D.R., Coates, P.T., Yang, S., Ling, C., Groop, L., Pritchard, M.A., Keating, D.J. (2016) PLOS Genetics 12(5): e1006033. doi:10.1371/journal.pgen.1006033 

Tc1 mouse model of trisomy-21 dissociates properties of short- and long-term recognition memory. Hall, J.H., Wiseman, F.K., Fisher, E.M.C., Tybulewicz, V.L.J., Harwood, J.L., Good, M.A. (2016) Neurobiology of Learning and Memory. 130, 118-128.

Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel. Lana-Elola, E., Watson-Scales, S., Slender, A., Gibbins, D., Martineau, A., Douglas, C., Mohun, T., Fisher, E.M.C., Tybulewicz, V.L.J. (2016)  eLife 2016;5:e11614. DOI: 10.7554/eLife.11614

Imaging the accumulation and suppression of tau pathology using multi-parametric MRI. Holmes, H.E., Colgan, N., Ismail, O., Ma, D., Powell, N.M., O’Callaghan, J.M., Harrison, I.F., Johnson, R.A., Murray, T.K., Ahmed, Z., Heggenes, M., Fisher, A., Cardoso, J., Modat, M., Walker-Samuel, S., Fisher, E.M.C., Ourselin, S., O’Neill, M.J.,  Wells, J.A., Collins, E.C., Lythgoe, M.F.(2016)  Neurobiology of Aging, 39: 184-194 http://dx.doi.org/10.1016/j.neurobiolaging.2015.12.001  

Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration. Joyce, P.I., Fratta, P., Landman, A., McGoldrick, P., Wackerhage, H., Groves, M., Busam, B.S., Galino, J., Corrochano, S., Beskina, O.A., Esapa, C., Ryder, E., Carter, S., Stewart, M., Codner, G., Hilton, H., Teboul, L., Lionikas, A., Estabel, J., Ramirez-Solis, R., White, J.K., Tucker, J., Brandner, S., Plagnol V., Bennett, L.H., Abramov, A.Y., Greensmith, L., Fisher, E.M.C.*, Acevedo-Arozena, A.* (2015)  Hum Molec Genet. 25: 291-307    doi: 10.1093/hmg/ddv471 *Corresponding author

Application of neurite orientation dispersion and density imaging (NODDI) to a tau pathology model of Alzheimer’s disease. Colgan, N., Siow, B., O’Callaghan, J.M., Harrison, I.F., Wells, J.A., Holmes, H.E., Ismail, O., Richardson, S., Alexander, D.C., Collins, E.C., Fisher E.M.C., Johnson, R., Schwarz, A.J., Ahmed, Z., O’Neill, M.J., Murray, T.K., Zhang, H., Lythgoe, M.F. (2016)  Neuroimage. 125: 739-744. doi: 10.1016/j.neuroimage.2015.10.043. PMID: 26505297

Intracerebral haemorrhage in Down syndrome: protected or predisposed? Buss L, Fisher E, Hardy J, Nizetic, D., Groet, J., Pulford, L., Strydom, A (2016). F1000Research 2016, 5(F1000 Faculty Rev):876 (doi: 10.12688/f1000research.7819.1)

The importance of understanding individual differences in Down syndrome. Karmiloff-Smith, A., Al-Janabi, T., D’Souza, H., Groet, J., Massand, E., Mok, K., Startin, C., Fisher, E.M.C., Hardy, J., Nizetic, D., Tybulewicz, V.L.J., Strydom, A., (2016)  5(F1000 Faculty Rev):389 (doi: 10.12688/f1000research.7506.1)

One target for amyotrophic lateral sclerosis therapy? Mizielinska S, Isaacs AM.  Science. 2016 Aug 12;353(6300):647-8.

Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster Iyer J, Wang Q, Le T, Pizzo L, Grönke S, Ambegaokar S, Imai Y, Srivastava A, Llamusí Troisí B, Mardon G, Artero R, Jackson GR, Isaacs AM, Partridge L, Kumar JP, Girirajan S. G3 (Bethesda). 2016 May 3;6(5):1427-37.