117th Meeting of the British Neuropathological Society Royal College of Physicians WEDNESDAY, 2nd MARCH 2016 TAU PATHOBIOLOGY AND TAU DISORDERS Chairs: Professor Johannes Attems, University of Newcastle, Newcastle, UK Professor Steve M Gentleman, Imperial College, London, UK 13:15 Registration 14:00 Welcome and introduction – Johannes Attems 14:15 Mechanisms of tau-toxicity in tauopathies Dr Amritpal Mudher, University of Southampton, UK 14:45: Prion like propagation of tau Professor Luc Buee, University of Lille, France 15:15: The spectrum of tau pathology in neurodegenerative diseases and aging - an update Professor Gabor Kovacs, Medical University of Vienna, Austria 15.45: Tea break 16:15: Neuroimaging of tau in vivo Professor Nick Fox, UCL Institute of Neurology, London, UK 16:45: Tau in biofluids - relation to pathology, imaging and clinical features Professor Henrik Zetterberg, University of Goteborg, Sweden 17:15: Tea break 17:30: Dorothy Russell Memorial Lecture Pharmaceutical implications of the paradigm shift in understanding and treatment of late life neurodegenerative disorders Professor Claude M Wischik, University of Aberdeen, UK 18:30: RECEPTION THURSDAY 3rd MARCH 2016 08:00 - Registration 08:50 - Opening of meeting – Professor Paul Ince, BNS President 09:00 - 10:30 FIRST SCIENTIFIC SESSION – Neurodegenerative diseases I: Synucleinopathies and Tauopathies Chair: Professor Gabor Kovacs and Dr Tammaryn Lashley 9:00 I. Ferrer, P. Garcia-Esparcia, K. Hernandez-Ortega Altered machinery of protein synthesis in Alzheimer’s disease and Parkinson’s disease: from the nucleus to the ribosome O01 9:15 M. C. Wren , K. Sander, T. Lashley , N. C. Fox and E. Arstad Sequential analysis of tau positron emission tomography tracer binding on human post-mortem brain tissue in Alzheimer’s disease and primary tauopathies O02 9:30 I. Poggiolini, C. Ruffmann, M. Hu, L. Parkkinen Alpha-synuclein (a-syn) paraffin-embedded (PET) blots in the brain and periphery O03 9:45 E.J. Lim, A.K.L. Liu, I. Ahmed, R.K.B. Pearce, S.M. Gentleman Clinicopathological correlations of the nucleus of the diagonal band of Broca in Lewy body disorders O04 10:00 H. Ling, G.G. Kovacs, J-P.Vonsattel, K. Davey, J. Holton, T. Revesz Early tau pathology in corticobasal degeneration: a morphometric study of 3 preclinical cases O05 10:15 T. Sposito, E. Preza, C. Mahoney, N. Ryan, N. Setó-Salvia, C. Arber, T. Bushell, M. Zagnoni, T. Kunath, N. Fox, M. Rossor, J. Hardy, S. Wray Human Stem Cell Models of Tauopathy O06 10:30 – 11:00 Coffee break 11:00 - 12:30 SECOND SCIENTIFIC SESSION –Neurodegenerative diseases II: Alzheimer’s Disease Chair: Professor Seth Love and Dr Delphine Boche 11:00 S. Rakic, Y.M.A. Hung, J. Wild, H. Tayler, J.A.R. Nicoll, C. Holmes, S. Love, V.H. Perry, W. Stewart, and D. Boche The effects of acute systemic infection on Alzheimer’s disease. O07 11:15 C.E. Murray, P. Gami, A.P. Kiely, D. Salih, J. Holton, T. Lashley Inflammatory gene expression profiles in sporadic, familial and TREM2 variant Alzheimer’s disease O08 11:30 S. Miners, P. Clarke, S. Love Clusterin levels are increased in Alzheimer’s disease and influence the regional distribution of Aβ O09 11:45 G. R. Buckland, C. H. Harrison, S. Love, J. W. Neal, C. Holmes, D. Boche, J.A.R.Nicoll Topographical distribution ofAβ removal resulting from Aβ immunotherapy in Alzheimer’s disease. O10 12:00 M. L. Moro, A. Phillips, K. Gaimster, A. Mudher, J. Nicoll, and D. Boche Amyloid beta and APP in ageing and AD. O11 12:15 K.E. McAleese, L. Walker, D. Erskine, J. Attems. The prevalence of TDP-43 pathology in Alzheimer’s disease, Lewy body dementia and mixed Alzheimer’s disease and Lewy body disease O12 12:30 - Lunch 13:00 –14.00 POSTER DISCUSSION 14:00-15:30 THIRD SCIENTIFIC SESSION – Tumors of the Central Nervous System Chairs: Professor Silvia Marino and Dr Kathreena Kurian 14:00 D.W. Ellison, I. Qaddoumi, W. Orisme, J. Wen, J.D. Dalton, B. Tang, K. Haupfear, K.M. Kurian, V.P. Collins, R.G. Tatevossian Genetic alterations in uncommon low-grade neural tumors O13 14:15 A. Tauziède-Espariat, K. Beccaria, F. Monnien, H. Adle-Biassette, J. Masliah-Planchon, M. Polivka, A. Laquerrière, S. Bouillot-Eimer, G. Gauchotte, H. Sevestre, S. Puget, P. Varlet Prognostic and therapeutic biomarkers in a series of 33 pediatric chordomas O14 14:30 S.C. Clifford, S. Crosier, D. Hicks, S. Nicholson, K. Robson, T.S. Jacques, S. Wharton, N. Bown, A. Michalski, B. Pizer Establishment of national real-time central pathology review (CPR) and molecular diagnostics O15 14.45 J. Dunn, S. Ferluga, V. Sharma, D.A. Hilton, K. Bassiri, C.O. Hanemann Identification of novel molecular targets in stratified meningiomas using proteomic approach O16 15.00 C. Burford, R.C. Laxton, M. Aizpurua, L. Doey, I. Bodi, A. King, R. Beaney, L. Brazil, K. Ashkan, S. Al-Sarraj Molecular classification of low grade gliomas O17 A. Merve, S. Acquati, J. Hoeck, J. Jeyapalan, A. Behrens and S. Marino c-Myc in choroid plexus tumourigenesis O18 15.15 15:30 Coffee break 16:00 BUSINESS MEETING 17:00 – 18:00 PROFESSIONAL AFFAIRS MEETING 19:30 SOCIETY DINNER AT THE ROYAL COLLEGE OF PHYSICIANS FRIDAY 4th MARCH 2016 9:00 – 10:30 FOURTH SCIENTIFIC SESSION – Vascular diseases and Ageing Chairs: Professor Raj Kalaria and Dr Roxana Carare 9:00 O. A. Skrobot, J. Attems, M. Esiri, T. Hortobágyi, J. Ironside, R. N. Kalaria, A. King, G.A. Lammie, D. Mann, J. Neal, Y. Ben-Shlomo, P. G. Kehoe, S. Love Vascular Cognitive Impairment Neuropathology Guidelines (VCING)- a UK multi-centre consensus study. O19 9:15 C.H. Harrison, G.R. Buckland, S.E. Brooks, D.A. Johnston, A.K.L. Liu, S.M. Gentleman, D. Boche, J.A.R. Nicoll Methods to demonstrate 3 dimensional organisation of cerebral cortical vasculature O20 9:30 A. Chen, L.L. Bates, Y. Hase, J.Y. Slade, A.E. Oakley, R.N. Kalaria White matter clasmatodendrosis and gliovascular abnormalities in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) O21 L. Parkkinen, H. Haytural, I. Guella, E. Nosova, L.T. Middleton, PD-MCI Consortium, PPMI Consortium and M.Farrer Alpha-synuclein genetic variability: a biomarker for dementia in Parkinson’s disease O22 9:45 10:00 R. Geraldes, M. Esiri, J. Palace, G. DeLuca Systemic vascular disease burden in multiple sclerosis: a post-mortem case-control study O23 10:15 – 10:45 Coffee break 10:45 – 12:00 FIFTH SCIENTIFIC SESSION –Peripheral nerve, muscle and motor neuron disease Chairs: Professor Caroline Sewry and Dr Robin Highley 10:45 R. Phadke, A.M. Rossor, V. Benoy, B. Kalmar, R.M.H. King, L. Greensmith, L.V.D Bosch, M.M. Reilly, H. Houlden Neuropathology of a human autopsy of HSPB1 distal hereditary motor neuropathy-dHMN (p.Ser135Phe) and transgenic mice with mutant/wild-type HSPB1 overexpression O24 11:10 C.M. Timson, D. Chambers, L. Feng, F. Muntoni, C. A. Sewry, R. Phadke Muscle biopsies reprocessed for electron microscopy from paraffin blocks and frozen tissue produce material of sufficient quality for diagnostic use O25 11: 15 P.W. Schutz, S.A. Yasin, C.T. Deakin, T.S. Jacques, J.L. Holton, L.R. Wedderburn on behalf of the UK Juvenile Dermatomyositis Research Group Histological subtypes of juvenile dermatomyositis O26 11:30 I. Vazquez-Villasenor, J. E. Simpson, C. Garwood, P. G. Ince, P. Heath, S. B. Wharton Neuronal senescence as a contributor to neurodegeneration O27 11:45 A. Lorente-Pons, J.D. Wood, P.J. Shaw, P.G. Ince, J. Cooper-Knock, A. Ramachandran, J. Kirby, J.R. Highley Investigating the mechanisms underlying oligodendrocyte dysfunction in C9ORF72ALS O28 12.00 - DIAGNOSTIC SLIDE SESSION (INCORPORATING EQA) 13:00 - Lunch 13:30 - POSTER DISCUSSION 14:30 – 16:15 SIXTH SCIENTIFIC SESSION – Miscellaneous Chairs: Professor Paul Ince and Professor Colin Smith 14:30 Z. Jaunmuktane, S. Mead, M. Ellis, A. J. Nicoll, F. Launchbury, A. Richard-Loendt, A. Sarah Walker, P. Rudge, J. Collinge, S. Brandner Possible evidence of human transmission of amyloid beta pathology. O29 14.45 15.00 15.15 J.J.M. Hoozemans, V.I. Wiersma, W. van Hecke, W. Scheper, J. M. Rozemuller Activation of the unfolded protein response is not a common feature in human prion disease O30 T. S. Jacques, J. Brown, S. Morfopoulou, A. Virasami, G. Anderson, D. Shah, M. Hubank, J. Breuer Diagnosis of viral encephalitis by next generation sequencing O31 C. Mitchell, H. Bulbeck, K.M. Kurian, D. Hilton, J.A.R. Nicoll Brain UK (UK Brain Archive Information network), What Next? O32 15:30 O.E. Curran, Z. Qiu, C. Smith, S.G.N. Grant Mapping regional distribution of excitatory postsynaptic proteins in human brain O33 15:45 A.K.L. Liu, H.M. Lai, M.E. Hurry, J. DeFelice, R.C.C. Chang, S.M. Gentleman Three-dimensional visualisation of human post-mortem brain tissues: potential and challenges O34 16.00 X.Y. Tai, J. Duncan, N. Fox, M. Koepp, P. Thompson and M. Thom Hyperphosphorylated tau burden in temporal lobectomy patients with chronic epilepsy. 16.15 Announcement of the poster prize winners and closure of the meeting O35 POSTERS: Fibrinogen deposition in the multiple sclerosis motor cortex R.L. Yates, M.M. Esiri, J. Palace, G.C. DeLuca The neuropathology of ALS-FUS: Singleton FUS mutations and an unusual case with both a TARDBP and FUS mutation A. King, C. Troakes, B. Smith, M. Nolan, O. Curran , C. Vance, C. E. Shaw, S. Al-Sarraj. P01 P02 The trans-synaptic spreading of pathological tau in P301S mice and AD human brains F. Mazzo, E. Sher P03 The role of TIGAR in Parkinson’s Disease K. L. Robles-Lopez, O. Bandmann, and J.R. Highley. P04 Tissue clearing for brain tumour research T.O. Millner, S. Marino P05 Old-age hippocampal sclerosis associates with GRN and TMEM106B but not with ABCC9 variation in population-based cohorts S. Hokkanen, M. Kero, S. Hunter, L. Lilius, A. Paetau, F. Matthews, T. Polvikoski, L. Myllykangas, C. Graff, C. Brayne Central and systemic inflammation in Dementia with Lewy Bodies and Alzheimer’s disease J. Amin, T. Williams, J. Teeling, D. Boche, C. Holmes NanoString analysis of neuroinflammation in multiple system atrophy A.P. Kiely, C. Murray, Y.T Asi, Z. Ahmed, T. Lashley, T. Revesz, J.L. Holton Angiotensin-converting enzyme-2 is reduced in Alzheimer’s disease in association with amyloid-beta and Tau pathology S. Miners, S. Wang, L. Palmer, S. Love, P. Kehoe Mitochondrial dysfunction in multiple system atrophy S.C. Wauters, A. Kiely, H. Houlden, I. Hargreaves, J.L. Holton Frontotemporal Dementia: Insights into the biological underpinnings of disease through gene co-expression network analysis. R. Ferrari, P. Forabosco, J. Vandrovcova, J. D. Warren, P. Momeni, M.E. Weale, M. Ryten, J. Hardy Investigating the pathological correlate of motor dysfunction in DLB and PDD. L. Walker, A. Thomas, D.J. Lett, K.E. McAleese, M. Johnson, J. Attems P06 P07 P08 P09 P10 P11 P12 Chronic traumatic encephalopathy-like changes within the basal forebrain among cases in the Parkinson’s UK Tissue Bank H.E. Questari, A.K.L. Liu, R.K.B. Pearce, S.M. Gentleman P13 Expression of hnRNPs in frontotemporal dementia P14 T. Lashley, P. Gami, C.E. Murray, T. Revesz The role of the visual thalamus in hallucinations in dementia with Lewy bodies D. Erskine, A. Khundakar, J. Attems, A. Thomas, C. Morris. Hypothalamic alpha-synuclein pathology and its relation to non-motor symptoms and disease progression in Parkinson’s disease E. De Pablo-Fernandez, R. Courtney, J.L. Holton, T.T. Warner P15 P16 Differences in the structure of the walls of cerebral arteries in the white matter compared to grey matter and the significance for Alzheimer’s disease. P17 R. Cumpsty, M. MacGregor Sharp, C. Finucane, H. Dobson, A. Verma, R.O. Weller, R.O. Carare BRAF fusion analysis in pilocytic astrocytomas: KIAA1549-BRAF 15-9 fusions are more frequent in the midline than within the cerebellum C. Faulkner, H. P. Ellis, A. Shaw, C. Penman, A. Palmer, C. Wragg, M. Greenslade, H. R. Haynes, H. Williams, S. Lowis, P. White, M. Williams, D. Capper, K.M. Kurian Erdheim Chester disease presenting as a suprasellar mass lesion J. Joseph, T. Dawson, T. Eadsforth, V. Kumar, G. Roberts, C. Bacon4 PPAR expression in glioblastoma has prognostic impact and is a putative glioma stem cell predictive biomarker H.R. Haynes, W. G. Singleton, H. Bulstrode, S.M. Pollard, P. White, K. Hares, K. Kemp, S. Parry, A. Wilkins, K.M. Kurian P18 P19 P20 Genomic analysis and classification of glioneuronal tumours T. J. Stone, A. Virasami, W. Harkness, M. Tisdall, M. Thom, D. Hargrave, M. Hubank, J. Ham, T.S. Jacques. P21 microRNA-449a acts as a master regulator of the brain tumour phenotype K. Sidlauskas, N. Li, Y. Zhang, J. Lau, S. Brandner P22 Focal, macrophage rich myopathy as a manifestation of calpain-3 mutations: are there modifiers of histological phenotype? P. W. Schutz, R. Scalco, R. Barresi, H. Houlden, M. Parton, J. L. Holton Unusual demyelinating pathology in a case of adult polyglucosan body disease R. Phadke, E. Murphy, O. Cicarrelli, M. Koltzenburg, M. Nesbitt, R. Kirk, M. Lunn Assessment of a panel of antibodies to myosin heavy chains applied to human skeletal muscle biopsies L. Feng, D. Chambers, N. Bhardwaj, F. Muntoni, R. Phadke, C. Sewry P23 P24 P25 Exaggerated macrophagic reaction against surgical material M. Aizpurua, S. Polyzoidis, A. King, S. Al-Sarraj, R. Laxton, S. Buk, I. Bodi P26 Identifying novel diagnostic biomarkers for paediatric focal cortical dysplasia F. Scerif, S.R. Picker, W. Harkness, M. Tisdall, F. Guillemot, S.M.L. Paine, J.H. Cross, T.S. Jacques. P27 Weighted Gene Correlation Network Analysis (WGCNA) reveals novel co-expressed networks involved in focal cortical dysplasia F. Scerif, S.R. Picker, J. Leung, W. Harkness, M. Tisdall, F. Guillemot, S.M.L. Paine, P28 J.H. Cross, T.S. Jacques The role of senescence in cellular pathology of focal cortical dysplasia: a focus on balloon cells. F. Scerif , A. Alahdal, G. Anderson, E. Zabala Aldunate, J. Apps, M. Tisdall, J.H. Cross, J.P. Martinez-Barbera, T.S. Jacques P29 Delineating the Pre-Botzinger nucleus in SUDEP S. Patodia, S. Sisodiya, M. Thom P30 Defining ILAE subtypes of hippocampal sclerosis utilising MAP2 and ZnT3 quantitative immunohistochemistry and correlation with pre- and post-operative memory deficits A.P. Jardim, J. Baber, J. Liu, Z. Michalak, C. Reeves, M. Ellis, S. Sisodiya, P. Thompson, M. Thom Glycogen storage disease type XV: a case report. R.S. Scalco, A. Gardiner, M. Desikan, H. Houlden, M.G. Hanna, A. Schapira, R. Lachmann, R. Phadke, J.L. Holton, R. Quinlivan Mitochondrial heat maps: A novel quantitative image analysis tool for assessing mitochondrial biogenesis in muscle biopsies R. Phadke, M. Ellis, A. Sigurta, D. Chambers, S. Saeed, N. Hill, M. Singer Colonic -synuclein: a potential diagnostic biomarker in Parkinson’s disease C. Ruffmann , I. Poggiolini, M. Hu, L. Parkkinen P31 P32 P33 P34 Impairment of IGF1 signalling in human astrocytes and it’s effect on astrocyte support for neurons L. Ratcliffe, C.J. Garwood, P. Heath, I. Villasenor, J. Simpson, P.G. Ince, S.B. Wharton P35