Research

Research using brain tissue

Selected 2014 publications using tissue sourced from the UK Brain Bank Network

Allen N, Robinson AC, Snowden S, Davidson YS, Mann DMA. Patterns of cerebral amyloid angiopathy define histopathological phenotypes in Alzheimer’s disease. Neuropathol Appl Neurobiol 2014; 40; 136-48

Asi YT, Simpson JE, Heath PR, Wharton SB, Lees AJ, Revesz T, Houlden H, Holton JL. Alpha-synuclein mRNA expression in oligodendrocytes in MSA. Glia 2014; 62: 964-70

Attems J, Walker L, Jellinger KA. Olfactory bulb involvement in neurodegenerative diseases. Acta Neuropathol 2014; 127: 459-75

Baborie A, Griffiths TD, Jaros E, Perry R, McKeith IG, Burn DJ, Masuda-Suzukake M, Hasegawa M, Robinson AC, Rollinson S, Pickering-Brown S, Davidson YS, Mann DMA. Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene. Neuropathol Appl Neurobiol 2014, doi:10.1111/nan.12178

Barker R, Ashby EL, Wellington D, Barrow VM, Palmer JC, Kehoe PG, Esiri MM, Love S. Pathophysiology of white matter perfusion in Alzheimer's disease and vascular dementia. Brain 2014; 137: 1524-32

Baruch K, Deczkowska A, David E, Castellano JM, Miller O, Kertser A, Berkutzki T, Barnett-Itzhaki Z, Bezalel D, Wyss-Coray T, Amit I, Schwartz M. Aging-induced type I interferon response at the choroid plexus negatively affects brain function. Science 2014; 346: 89-93

Conway ME, El Hindy M, Hezwani M, Hull J, Corry D, Mansbridge A, Hassler M, Patel VB, Kehoe PG, Love S, Harris M, Forshaw T, Lee CS, El Amraoui F, Wilson A. The branched-chain aminotransferase proteins: novel redox chaperones for protein disulfide isomerase – implications in Alzheimer’s disease. Antiox Redox Sign 2014; 20: 2497-513

Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, Hsu S, Choi J, Ryten M, Hardy J, Ryten M, Trabzuni D, Weale ME, Ramasamy A, Smith C, Sassi C, Bras J, Gibbs JR, Hernandez DG, Lupton MK, Powell J, Forabosco P, Ridge PG, Corcoran CD, Tschanz JT, Norton MC, Munger RG, Schmutz C, Leary M, Demirci FY, Bamne MN, Wang X, Lopez OL, Ganguli M, Medway C, Turton J, Lord J, Braae A, Barber I, Brown K, Passmore P, Craig D, Johnston J, McGuinness B, Todd S, Heun R, Kölsch H, Kehoe PG, Hooper NM, Vardy ERLC, Mann DM, Pickering-Brown S, Brown K, Kalsheker N, Lowe J, Morgan K, David Smith A, Wilcock G, Warden D, Holmes C, Pastor P, Lorenzo-Betancor O, Brkanac Z, Scott E, Topol E, Morgan K, Rogaeva E, Singleton AB, Hardy J, Kamboh MI, St George-Hyslop P, Cairns N, Morris JC, Kauwe JSK, Goate AM; UK Brain Expression Consortium. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature 2014; 505: 550-4

Davidson Y, Barker H, Robinson AC, Troakes C, Smith B, Al-Saraj S, Shaw C, Rollinson S, Masuda-Suzukake M, Hasegawa M, Pickering-Brown S, Snowden JS, Mann DMA. Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. Acta Neuropathol Comm 2014; 2: 70, doi: 10.1186/2051-5960-2-70

Ekonomou A, Savva GM, Brayne C, Forster G, Francis PT, Johnson M, Perry EK, Attems J, Somani A, Minger SL, Ballard CG; The Medical Research Council Cognitive Function and Ageing Neuropathology Study. Stage-specific changes in neurogenic and glial markers in Alzheimer's disease. Biol Psychiatry 2014; doi: 10.1016/j.biopsych.2014.05.021

Ernst A, Alkass K, Bernard S, Salehpour M, Perl S, Tisdale J, Possnert G, Druid H, Frisén J. Neurogenesis in the striatum of the adult human brain. Cell 2014; 156, 1072-83

Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JB, 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, Binetti G, Ghidoni R, Forloni G, Galimberti D, Fenoglio C, Serpente M, Scarpini E, Clarimón J, Lleó A, Blesa R, Waldö ML, Nilsson K, Nilsson C, Mackenzie IR, Hsiung GY, Mann DM, 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, Rainero I, Rubino E, Pinessi L, Rogaeva E, St George-Hyslop P, Rossi G, Tagliavini F, Giaccone G, Rowe JB, Schlachetzki JC, Uphill J, Collinge J, Mead S, Danek A, Van Deerlin VM, Grossman M, Trojanowski JQ, van der Zee J, Deschamps W, Van Langenhove T, Cruts M, Van Broeckhoven C, Cappa SF, Le Ber I, Hannequin D, Golfier V, Vercelletto M, Brice A, Nacmias B, Sorbi S, Bagnoli S, Piaceri I, Nielsen JE, Hjermind LE, Riemenschneider M, Mayhaus M, Ibach B, Gasparoni G, Pichler S, Gu W, Rossor MN, 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, Bernardi L, Anfossi M, Gallo M, Conidi ME, Smirne N, Rademakers R, Baker M, Dickson DW, Graff-Radford NR, Petersen RC, Knopman D, Josephs KA, Boeve BF, Parisi JE, Seeley WW, Miller BL, Karydas AM, Rosen H, van Swieten JC, Dopper EG, Seelaar H, Pijnenburg YA, 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, Ferrucci L, Pickering-Brown S, Singleton AB, Hardy J, Momeni P. Frontotemporal dementia and its subtypes: a genome-wide association study. Lancet Neurol 2014; 13: 686-99

Garwood CJ, Simpson JE, Al Mashhadi S, Axe C, Wilson S, Heath PR, Shaw PJ, Matthews FE, Brayne C, Ince PG, Wharton SB; MRC Cognitive Function and Ageing Neuropathology Study Group. DNA damage response and senescence in endothelial cells of human cerebral cortex and relation to Alzheimer's neuropathology progression: a population-based study in the Medical Research Council Cognitive Function and Ageing Study (MRC-CFAS) cohort. Neuropathol Appl Neurobiol 2014; 40: 802-14

Huynh JL, Garg P, Thin TH, Yoo S, Dutta R, Trapp BD, Haroutunian V, Zhu J, Donovan MJ, Sharp AJ, Casaccia P. Epigenome-wide differences in pathology-free regions of multiple sclerosis-affected brains. Nat Neurosci 2014; 17:121-30

Iovino M, Pfisterer U, Holton JL, Lashley T, Swingler RJ, Calo L, Treacy R, Revesz T, Parmar M, Goedert M, Muqit MM, Spillantini MG. The novel MAPT mutation K298E: mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons. Acta Neuropathol 2014; 127:283-95

Jones M, Odunsi S, du Plessis D, Vincent A, Bishop M, Head MW, Ironside JW, Gow D. Gerstmann-Straüssler-Scheinker disease: novel PRNP mutation and VGKC-complex antibodies. Neurology 2014; 82: 2107-11

Keage HA, Hunter S, Matthews FE, Ince PG, Hodges J, Hokkanen S, Highley JR, Dening T, Brayne C. TDP-43 in the population: prevalence and associations with dementia and age. J Alzheimers Dis 2014; 42: 641-50

Lant S, Robinson AC, Thompson JC, Rollinson S, Pickering-Brown S,  Snowden JS, Davidson YS, Gerhard A, Mann DMA. Patterns of microglial cell activation in frontotemporal lobar degeneration. Neuropathol Appl Neurobiol 2014; 40; 686-96

Ling H, de Silva R, Massey LA, Courtney R, Hondhamuni G, Bajaj N, Lowe J, Holton JL, Lees A, Revesz T. Characteristics of progressive supranuclear palsy presenting with corticobasal syndrome: a cortical variant. Neuropathol Appl Neurobiol 2014; 40: 149-63

Lunnon K, Smith R, Hannon E, De Jager PL, Srivastava G, Volta M, Troakes C, Al-Sarraj S, Burrage J, Macdonald R, Condliffe D, Harries LW, Katsel P, Haroutunian V, Kaminsky Z, Joachim C, Powell J, Lovestone S, Bennett DA, Schalkwyk LC, Mill J. Methylomic profiling implicates cortical deregulation of ANK1 in Alzheimer's disease. Nat Neurosci 2014; 17: 1164-70

Mandler M, Walker L, Santic R, Hanson P, Upadhaya AR, Colloby SJ, Morris CM, Thal DR, Thomas AJ, Schneeberger A, Attems J. Pyroglutamylated amyloid-β is associated with hyperphosphorylated tau and severity of Alzheimer's disease. Acta Neuropathol 2014; 128: 67-79

Miron VE, Boyd A, Zhao JW, Yuen TJ, Ruckh JM, Shadrach JL, van Wijngaarden P, Wagers AJ, Williams A, Franklin RJ, ffrench-Constant C. M2 microglia and macrophages drive oligodendrocyte differentiation during CNS remyelination. Nat Neurosci 2013; 16: 1211-8

Ramasamy A, Trabzuni D, Forabosco P, Smith C, Walker R, Dillman A, Sveinbjornsdottir S; North American Brain Expression Consortium (NABEC), UK Brain Expression Consortium (UKBEC), Hardy J, Weale ME, Ryten Menetic evidence for a pathogenic role for the vitamin D3 metabolizing enzyme CYP24A1 in multiple sclerosis. Mult Scler Relat Disord 2014; 3: 211-9

Ramasamy A, Trabzuni D, Guelfi S, Varghese V, Smith C, Walker R, De T, UK Brain Expression Consortium, North American Brain Expression Consortium, Coin L, de Silva R, Cookson MR, Singleton AB, Hardy J, Ryten M, Weale ME Genetic variability in the regulation of gene expression in multiple regions of the human brain. Nature Neurosci 2014; 17: 1418-28

Respondek G, Stamelou M, Kurz C, Ferguson LW, Rajput A, Chiu WZ, van Swieten JC, Troakes C, Al Sarraj S, Gelpi E, Gaig C, Tolosa E, Oertel WH, Giese A, Roeber S, Arzberger T, Wagenpfeil S, Höglinger GU; Movement Disorder Society-endorsed PSP Study Group. The phenotypic spectrum of progressive supranuclear palsy: a retrospective multicenter study of 100 definite cases. Mov Disord 2014; 29: 1758-66

Sakai K, Boche D, Carare R, Johnston D, Holmes C, Love S, Nicoll JAR. Aβ immunotherapy for Alzheimer's disease: effects on apoE and cerebral vasculopathy. Acta Neuropathol 2014; 128: 777-89

Schirmer L, Srivastava R, Kalluri S R, Böttinger S, Herwerth M, Carassiti D, Srivastava B, Gempt J, Schlegel J, Kuhlmann T, et al. Differential loss of KIR4.1 immunoreactivity in multiple sclerosis lesions. Ann Neurol 2014; 75: 810-28

Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al-Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, ten Asbroek AL, Sapp PC, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Muñoz-Blanco JL, Simpson M; SLAGEN Consortium, van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE. Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. Neuron 2014; 84: 324-31

Tepavčević V, Kerninon C, Aigrot MS, Meppiel E, Mozafari S, Arnould-Laurent R, Ravassard P, Kennedy TE, Nait-Oumesmar B, Lubetzki C. Early netrin-1 expression impairs central nervous system remyelination. Ann Neurol 2014; 76: 252-68

Vergani F, Mahmood S, Morris CM, Mitchell P, Forkel SJ. Intralobar fibres of the occipital lobe: a post mortem dissection study Cortex 2014; 56: 145-56

Waite AJ, Bäumer D, East S, Neal J, Morris HR, Ansorge O, Blake DJ. Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9orf72 hexanucleotide repeat expansion. Neurobiol Aging 2014; 35: 1779.e5–1779.e13