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MRC Prion Unit
From fundamental research to prevention and cure
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2017 Publications

Methods for Molecular Diagnosis of Human Prion Disease. Wadsworth JDF, Adamson G, Joiner S, Brock L, Powell C, Linehan JM, Beck JA, Brandner S, Mead S, Collinge J.  Methods Mol Biol. 2017;1658:311-346. doi: 10.1007/978-1-4939-7244-9_22.

Serum neurofilament light in familial Alzheimer disease A marker of early neurodegeneration
PSJ Weston, T Poole, NS Ryan, A Nair, Y Liang, K Macpherson, R Druyeh,
Neurology 89 (21), 2167-2175

Soluble Aβ aggregates can inhibit prion propagation. Sarell CJ, Quarterman E, Yip DC, Terry C, Nicoll AJ, Wadsworth JDF, Farrow MA, Walsh DM, Collinge J.  Open Biol. 2017 Nov;7(11). pii: 170158. doi: 10.1098/rsob.170158.

The TMEM106B risk allele is associated with lower cortical volumes in a clinically diagnosed frontotemporal dementia cohort
SR Harding, M Bocchetta, E Gordon, DM Cash, MJ Cardoso, R Druyeh, ...
J Neurol Neurosurg Psychiatry, jnnp-2017-315641

Transmissible Spongiform Encephalopathies of Humans and Animals
S Mead, J Collinge, SJ Tabrizi
Infectious Diseases (Fourth Edition), 214-220. e2

Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases
R Ferrari, Y Wang, J Vandrovcova, S Guelfi, A Witeolar, CM Karch, ...
J Neurol Neurosurg Psychiatry 88 (2), 152-164

CJD mimics and chameleons
S Mead, P Rudge
Practical neurology 17 (2), 113-121

Sqstm1 mutations in frontotemporal dementia are associated with Asymmetrical focal temporal lobe atrophy S Boretska, M Bocchetta, C Koriath, IOC Woollacott, JD Warren, S Mead, ...
Alzheimer's & Dementia: The Journal of the Alzheimer's Association 13 (7), P755

Prion diseases
TH Mok, S Mead
Medicine

The clinical, neuroanatomical, and neuropathologic phenotype of TBK1-associated frontotemporal dementia: A longitudinal case report
CAM Koriath, M Bocchetta, E Brotherhood, IOC Woollacott, P Norsworthy, ...
Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring 6, 75-81

Protective Effect of Val129-PrP against Bovine Spongiform Encephalopathy but not Variant Creutzfeldt-Jakob Emerg Infect Dis. 2017 Sep;23(9):1522-1530. doi: 10.3201/eid2309.161948. Fernández-Borges N, Espinosa JC, Marín-Moreno A, Aguilar-Calvo P, Asante EA, Kitamoto T, Mohri S, Andréoletti O, Torres JM.

Accelerated long-term forgetting in presymptomatic Autosomal Dominant Alzheimer's disease: A cross-sectional study
PSJ Weston, T Poole, NS Ryan, A Nair, Y Liang, K Macpherson, R Druyeh, ...
Lancet Neurology

Themes and variations in ppa: a clinical and neurobiological analysis of the ucl cohort
CJD Hardy, CR Marshall, M Bocchetta, S Harding, LL Russell, JL Agustus, ...
Alzheimer's & Dementia: The Journal of the Alzheimer's Association 13 

The language disorder of prion disease is characteristic of a dynamic aphasia and is rarely an isolated clinical feature Caine D, Nihat A, Crabb P, Rudge P, Cipolotti L, Collinge J, Mead S. PLoS One. 2018 Jan 5;13(1):e0190818. doi: 10.1371/journal.pone.0190818. eCollection 2018.

Imaging and CSF analyses effectively distinguish CJD from its mimics. Rudge P, Hyare H, Green A, Collinge J, Mead S. J Neurol Neurosurg Psychiatry. 2017 Nov 15. pii: jnnp-2017-316853. doi: 10.1136/jnnp-2017-316853. [Epub ahead of print]

Variant Creutzfeldt-Jakob Disease in a Patient with Heterozygosity at PRNP Codon 129. 
Mok T, Jaunmuktane Z, Joiner S, Campbell T, Morgan C, Wakerley B, Golestani F, Rudge P, Mead S, Jäger HR, Wadsworth JD, Brandner S, Collinge J.  N Engl J Med. 2017 Jan 19;376(3):292-294. doi: 10.1056/NEJMc1610003. 

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Sims R, van der Lee SJ, et all. Nat Genet. 2017 Sep;49(9):1373-1384. doi: 10.1038/ng.3916. Epub 2017 Jul 17.

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
DJH Moss, AF Pardiñas, D Langbehn, K Lo, BR Leavitt, R Roos, A Durr, ...
The Lancet Neurology 16 (9), 701-711

TMEM106B and ApoE polymorphisms in CHMP2B mediated frontotemporal dementia (FTD-3) Corresponding Author: Mr. Peter Roos.Nina Rostgaard; Esben Budtz-Jørgensen; Peter Johannsen; Gunhild Waldemar; Anne Nørremølle; Suzanne G Lindquist; Gydesen Susanne; Jerry Brown; John Collinge; Adrian Isaacs; Troels T Nielsen; Jørgen E Nielsen.  Neurobiol Aging. 2017 Nov;59:221.e1-221.e7. doi: 10.1016/j.neurobiolaging.2017.06.026. Epub 2017 Jul 11.

A novel prion protein variant in a patient with semantic dementia. Kenny J, Woollacott I, Koriath C, Hosszu L, Adamson G, Rudge P, Rossor MN, Collinge J, Rohrer JD, Mead S.  J Neurol Neurosurg Psychiatry. 2017. pii: jnnp-2017-315577. doi: 10.1136/jnnp-2017-315577. [Epub ahead of print]

Targeting glutamatergic and cellular prion protein mechanisms of amyloid β-mediated persistent synaptic plasticity disruption: Longitudinal studies. Zhang D, Qi Y, Klyubin I, Ondrejcak T, Sarell CJ, Cuello AC, Collinge J, Rowan MJ. Neuropharmacology. 2017; 121:231-246. doi: 10.1016/j.neuropharm.2017.03.036. Epub 2017 Apr 5.

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; 88(2):152-164. doi: 10.1136/jnnp-2016-314411.  

Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation. 
Clayton EL, Mancuso R, Nielsen TT, Mizielinska S, Holmes H, Powell N, Norona F, Larsen JO, Milioto C, Wilson KM, Lythgoe MF, Ourselin S, Nielsen JE, Johannsen P, Holm I, Collinge J; FReJA., Oliver PL, Gomez-Nicola D, Isaacs AM. Hum Mol Genet. 2017 Jan 16. doi: 10.1093/hmg/ddx003. [Epub ahead of print]

Cultural factors that affected the spatial and temporal epidemiology of kuru. 
Whitfield J. T., Pako, W. H., Collinge, J. & Alpers, M. P. (2017) R Soc open sci
DOI:

Neuroanatomical correlates of prion disease progression - a 3T longitudinal voxel-based morphometry study. 
De Vita E, Ridgway GR, White MJ, Porter MC, Caine D, Rudge P, Collinge J, Yousry TA, Jager HR, Mead S, Thornton JS, Hyare H.  Neuroimage Clin. 2016 Nov 2;13:89-96. eCollection 2017.