Brains for Dementia Research: The Importance of Cohorts in Brain Banking
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摘要
<正>Background:The Historical Importance of Studies of Human Brain in Dementia Research The collection of brain and related tissue has a long history[1]. In terms of dementia, a more systematic examination of the relationship between brain pathology and clinical symptoms can be traced to Alois Alzheimer’s group in Munich in the early 1900s [2]. The use of human brain tissue is essential to increase our understanding of dementia as it gives us the gold standard of disease pathogenesis and clues as to the molecular mechanisms that underpin the
引文
1.Overy C,Tansey EM(EDs).The Development of Brain Banks in the UK c.1970-c.2010.Welcome Witnesses to Contemporary Medicine 2015,53:2018.
2.Bick KL,Pepeu G(EDs).The Early Story of Alzheimer’s Disease.Padova,Italy:Liviana Press,1987.
3.Bowen DM,Smith CB,White P,Davison AN.Neurotransmitterrelated enzymes and indices of hypoxia in senile dementia and other abiotrophies.Brain 1976,99:459-496.
4.Francis PT,Palmer AM,Sims NR,Bowen DM,Davison AN,Esiri MM,et al.Neurochemical studies of early-onset Alzheimer’s disease.Possible influence on treatment.N Engl J Med1985,313:7-11.
5.Clarke NA,Francis PT.Cholinergic and glutamatergic drugs in Alzheimer’s disease therapy.Expert Rev Neurother 2005,5:671-682.
6.Glenner GG,Wong CW.Initial report of the purification and characterization of a novel cerebrovascular amyloid protein.Biochem Biophys Res Commun 1984,120:885-890.
7.Goedert M,Wischik CM,Crowther RA,Walker JE,Klug A.Cloning and sequencing of the cDNA encoding a core protein of the paired helical filament of Alzheimer disease:identification as the microtubule associated protein tau.Proc Natl Acad Sci U S A1988,85:4051-4055.
8.Klunk WE,Engler H,Nordberg A,Wang Y,Blomqvist G,Holt DP,et al.Imaging brain amyloid in Alzheimer’s disease with Pittsburgh Compound-B.Ann Neurol 2004,55:306-319.
9.Holmes C,Boche D,Wilkinson D,Yadegarfar G,Hopkins V,Bayer A,et al.Long-term effects of Ab42 immunisation in Alzheimer’s disease:follow-up of a randomised,placebo-controlled phase I trial.Lancet 2008,372:216-223.
10.Yan XX,Ma C,Bao AM,Wang XM,Gai WP.Brain banking as a cornerstone of neuroscience in China.Lancet Neurol 2015,14:136.
11.Jia J,Wei C,Chen S,Li F,Tang Y,Qin W,et al.The cost of Alzheimer’s disease in China and re-estimation of costs worldwide.Alzheimers Dement 2018,14:483-491.
12.The Lancet Neurology.Brain banking:more effective strategies needed.Lancet Neurol 2013,12:1035.
13.Ince PG,Minett T,Forster G,Brayne C,Wharton SB,Medical Research Council Cognitive Function and Ageing Neuropathology Study.Microinfarcts in an older population-representative brain donor cohort(MRC CFAS):Prevalence,relation to dementia and mobility,and implications for the evaluation of cerebral Small Vessel Disease.Neuropathol Appl Neurobiol2017,43:409-418.
14.Samarasekera N,Al-Shahi Salman R,Huitinga I,Klioueva N,McLean CA,Kretzschmar H,et al.Brain banking for neurological disorders.Lancet Neurol 2013,12:1096-1105.
15.Alafuzoff I,Arzberger T,Al-Sarraj S,Bodi I,Bogdanovic N,Braak H,et al.Staging of neurofibrillary pathology in Alzheimer’s disease:a study of the BrainNet Europe Consortium.Brain Pathol 2008,18:484-496.
16.Montine TJ,Phelps CH,Beach TG,Bigio EH,Cairns NJ,Dickson DW,et al.National Institute on Aging-Alzheimer’s Association guidelines for the neuropathologic assessment of Alzheimer’s disease:a practical approach.Acta Neuropathol2012,123:1-11.
17.McKeith IG,Boeve BF,Dickson DW,Halliday G,Taylor JP,Weintraub D,et al.Diagnosis and management of dementia with Lewy bodies:Fourth consensus report of the DLB Consortium.Neurology 2017,89:88-100.
18.Skrobot OA,Attems J,Esiri M,Hortobagyi T,Ironside JW,Kalaria RN,et al.Vascular cognitive impairment neuropathology guidelines(VCING):the contribution of cerebrovascular pathology to cognitive impairment.Brain 2016,139:2957-2969.
19.Patel T,Brookes KJ,Turton J,Chaudhury S,Guetta-Baranes T,Guerreiro R,et al.Whole-exome sequencing of the BDR cohort:evidence to support the role of the PILRA gene in Alzheimer’s disease.Neuropathol Appl Neurobiol 2017.https://doi.org/10.1111/nan.12452.
20.Rogers SL,Friedhoff LT.The efficacy and safety of donezepil in patients with Alzheimer’s disease:results of a US multicentre randomized,double-blind,placebo-controlled trial.Dementia1996,7:293-303.
21.Francis PT,Palmer AM,Snape M,Wilcock GK.The cholinergic hypothesis of Alzheimer’s disease:a review of progress.J Neurol Neurosurg Psychiatry 1999,66:137-147.
22.Francis PT,Ramirez MJ,Lai MK.Neurochemical basis for symptomatic treatment of Alzheimer’s disease.Neuropharmacology 2010,59:221-229.
23.Terry RD,Masliah E,Salmon DP,Butters N,DeTeresa R,Hill R,et al.Physical basis of cognitive alterations in Alzheimer’s disease:synapse loss is the major correlate of cognitive impairment.Ann Neurol 1991,30:572-580.
24.Selkoe DJ.Alzheimer’s disease is a synaptic failure.Science2002,298:789-791.
25.Landau SM,Harvey D,Madison CM,Koeppe RA,Reiman EM,Foster NL,et al.Associations between cognitive,functional,and FDG-PET measures of decline in AD and MCI.Neurobiol Aging2011,32:1207-1218.
26.Vallortigara J,Whitfield D,Quelch W,Alghamdi A,Howlett D,Hortobagyi T,et al.Decreased levels of VAMP2 and monomeric alpha-synuclein correlate with duration of dementia.J Alzheimers Dis 2016,50:101-110.
27.Baek JH,Whitfield D,Howlett D,Francis P,Bereczki E,Ballard C,et al.Unfolded protein response is activated in Lewy body dementias.Neuropathol Appl Neurobiol 2016,42:352-365.
28.Whitfield DR,Vallortigara J,Alghamdi A,Hortobgyi T,Ballard C,Thomas AJ,et al.Depression and synaptic zinc regulation in Alzheimer disease,dementia with lewy bodies,and Parkinson disease dementia.Am J Geriatr Psychiatry 2015,23:141-148.
29.Alghamdi A,Vallortigara J,Howlett DR,Broadstock M,Hortobagyi T,Ballard C,et al.Reduction of RPT6/S8(a Proteasome Component)and proteasome activity in the cortex is associated with cognitive impairment in Lewy body dementia.J Alzheimers Dis 2017,57:373-386.
30.Bereczki E,Francis PT,Howlett D,Pereira JB,Hoglund K,Bogstedt A,et al.Synaptic proteins predict cognitive decline in Alzheimer’s disease and Lewy body dementia.Alzheimers Dement 2016,12:1149-1158.
31.Bereczki E,Branca RM,Francis PT,Pereira JB,Baek JH,Hortobagyi T,et al.Synaptic markers of cognitive decline in neurodegenerative diseases:a proteomic approach.Brain 2018,141:582-595.
32.Datta A,Chai YL,Tan JM,Lee JH,Francis PT,Chen CP,et al.An iTRAQ-based proteomic analysis reveals dysregulation of neocortical synaptopodin in Lewy body dementias.Mol Brain2017,10:36.
33.Xing H,Lim YA,Chong JR,Lee JH,Aarsland D,Ballard CG,et al.Increased phosphorylation of collapsin response mediator protein-2 at Thr514 correlates with beta-amyloid burden and synaptic deficits in Lewy body dementias.Mol Brain 2016,9:84.
34.Ferrero H,Larrayoz IM,Martisova E,Solas M,Howlett DR,Francis PT,et al.Increased levels of brain adrenomedullin in the neuropathology of Alzheimer’s disease.Mol Neurobiol 2018,55:5177-5183.
35.Kirvell SL,Esiri MM,Francis PT.Down regulation of vesicular glutamate transporters precede cell loss and pathology in Alzheimer’s disease.J Neurochem 2006,98:939-950.
36.Cummings JL,Mega M,Gray K,Rosenberg-Thompson S,Carusi DA,Gornbein J.The neuropsychiatric inventory-comprehensive assessment of psychopathology in dementia.Neurology 1994,44:2308-2314.
37.Whitfield DR,Vallortigara J,Alghamdi A,Howlett D,Hortobagyi T,Johnson M,et al.Assessment of ZnT3 and PSD95protein levels in Lewy body dementias and Alzheimer’s disease:association with cognitive impairment.Neurobiol Aging 2014,35:2836-2844.
38.Vallortigara J,Rangarajan S,Whitfield D,Alghamdi A,Howlett D,Hortobagyi T,et al.Dynamin1 concentration in the prefrontal cortex is associated with cognitive impairment in Lewy body dementia.F1000Res 2014,3:108.
39.Finnema SJ,Nabulsi NB,Eid T,Detyniecki K,Lin SF,Chen MK,et al.Imaging synaptic density in the living human brain.Sci Transl Med 2016,8:348ra396.
40.Colom-Cadena M,Pegueroles J,Herrmann AG,Henstridge CM,Munoz L,Querol-Vilaseca M,et al.Synaptic phosphorylated alpha-synuclein in dementia with Lewy bodies.Brain 2017,140:3204-3214.
41.Hannon E,Lunnon K,Schalkwyk L,Mill J.Interindividual methylomic variation across blood,cortex,and cerebellum:implications for epigenetic studies of neurological and neuropsychiatric phenotypes.Epigenetics 2015,10:1024-1032.
42.Dammer EB,Duong DM,Diner I,Gearing M,Feng Y,Lah JJ,et al.Neuron enriched nuclear proteome isolated from human brain.J Proteome Res 2013,12:3193-3206.
2.Bick KL,Pepeu G(EDs).The Early Story of Alzheimer’s Disease.Padova,Italy:Liviana Press,1987.
3.Bowen DM,Smith CB,White P,Davison AN.Neurotransmitterrelated enzymes and indices of hypoxia in senile dementia and other abiotrophies.Brain 1976,99:459-496.
4.Francis PT,Palmer AM,Sims NR,Bowen DM,Davison AN,Esiri MM,et al.Neurochemical studies of early-onset Alzheimer’s disease.Possible influence on treatment.N Engl J Med1985,313:7-11.
5.Clarke NA,Francis PT.Cholinergic and glutamatergic drugs in Alzheimer’s disease therapy.Expert Rev Neurother 2005,5:671-682.
6.Glenner GG,Wong CW.Initial report of the purification and characterization of a novel cerebrovascular amyloid protein.Biochem Biophys Res Commun 1984,120:885-890.
7.Goedert M,Wischik CM,Crowther RA,Walker JE,Klug A.Cloning and sequencing of the cDNA encoding a core protein of the paired helical filament of Alzheimer disease:identification as the microtubule associated protein tau.Proc Natl Acad Sci U S A1988,85:4051-4055.
8.Klunk WE,Engler H,Nordberg A,Wang Y,Blomqvist G,Holt DP,et al.Imaging brain amyloid in Alzheimer’s disease with Pittsburgh Compound-B.Ann Neurol 2004,55:306-319.
9.Holmes C,Boche D,Wilkinson D,Yadegarfar G,Hopkins V,Bayer A,et al.Long-term effects of Ab42 immunisation in Alzheimer’s disease:follow-up of a randomised,placebo-controlled phase I trial.Lancet 2008,372:216-223.
10.Yan XX,Ma C,Bao AM,Wang XM,Gai WP.Brain banking as a cornerstone of neuroscience in China.Lancet Neurol 2015,14:136.
11.Jia J,Wei C,Chen S,Li F,Tang Y,Qin W,et al.The cost of Alzheimer’s disease in China and re-estimation of costs worldwide.Alzheimers Dement 2018,14:483-491.
12.The Lancet Neurology.Brain banking:more effective strategies needed.Lancet Neurol 2013,12:1035.
13.Ince PG,Minett T,Forster G,Brayne C,Wharton SB,Medical Research Council Cognitive Function and Ageing Neuropathology Study.Microinfarcts in an older population-representative brain donor cohort(MRC CFAS):Prevalence,relation to dementia and mobility,and implications for the evaluation of cerebral Small Vessel Disease.Neuropathol Appl Neurobiol2017,43:409-418.
14.Samarasekera N,Al-Shahi Salman R,Huitinga I,Klioueva N,McLean CA,Kretzschmar H,et al.Brain banking for neurological disorders.Lancet Neurol 2013,12:1096-1105.
15.Alafuzoff I,Arzberger T,Al-Sarraj S,Bodi I,Bogdanovic N,Braak H,et al.Staging of neurofibrillary pathology in Alzheimer’s disease:a study of the BrainNet Europe Consortium.Brain Pathol 2008,18:484-496.
16.Montine TJ,Phelps CH,Beach TG,Bigio EH,Cairns NJ,Dickson DW,et al.National Institute on Aging-Alzheimer’s Association guidelines for the neuropathologic assessment of Alzheimer’s disease:a practical approach.Acta Neuropathol2012,123:1-11.
17.McKeith IG,Boeve BF,Dickson DW,Halliday G,Taylor JP,Weintraub D,et al.Diagnosis and management of dementia with Lewy bodies:Fourth consensus report of the DLB Consortium.Neurology 2017,89:88-100.
18.Skrobot OA,Attems J,Esiri M,Hortobagyi T,Ironside JW,Kalaria RN,et al.Vascular cognitive impairment neuropathology guidelines(VCING):the contribution of cerebrovascular pathology to cognitive impairment.Brain 2016,139:2957-2969.
19.Patel T,Brookes KJ,Turton J,Chaudhury S,Guetta-Baranes T,Guerreiro R,et al.Whole-exome sequencing of the BDR cohort:evidence to support the role of the PILRA gene in Alzheimer’s disease.Neuropathol Appl Neurobiol 2017.https://doi.org/10.1111/nan.12452.
20.Rogers SL,Friedhoff LT.The efficacy and safety of donezepil in patients with Alzheimer’s disease:results of a US multicentre randomized,double-blind,placebo-controlled trial.Dementia1996,7:293-303.
21.Francis PT,Palmer AM,Snape M,Wilcock GK.The cholinergic hypothesis of Alzheimer’s disease:a review of progress.J Neurol Neurosurg Psychiatry 1999,66:137-147.
22.Francis PT,Ramirez MJ,Lai MK.Neurochemical basis for symptomatic treatment of Alzheimer’s disease.Neuropharmacology 2010,59:221-229.
23.Terry RD,Masliah E,Salmon DP,Butters N,DeTeresa R,Hill R,et al.Physical basis of cognitive alterations in Alzheimer’s disease:synapse loss is the major correlate of cognitive impairment.Ann Neurol 1991,30:572-580.
24.Selkoe DJ.Alzheimer’s disease is a synaptic failure.Science2002,298:789-791.
25.Landau SM,Harvey D,Madison CM,Koeppe RA,Reiman EM,Foster NL,et al.Associations between cognitive,functional,and FDG-PET measures of decline in AD and MCI.Neurobiol Aging2011,32:1207-1218.
26.Vallortigara J,Whitfield D,Quelch W,Alghamdi A,Howlett D,Hortobagyi T,et al.Decreased levels of VAMP2 and monomeric alpha-synuclein correlate with duration of dementia.J Alzheimers Dis 2016,50:101-110.
27.Baek JH,Whitfield D,Howlett D,Francis P,Bereczki E,Ballard C,et al.Unfolded protein response is activated in Lewy body dementias.Neuropathol Appl Neurobiol 2016,42:352-365.
28.Whitfield DR,Vallortigara J,Alghamdi A,Hortobgyi T,Ballard C,Thomas AJ,et al.Depression and synaptic zinc regulation in Alzheimer disease,dementia with lewy bodies,and Parkinson disease dementia.Am J Geriatr Psychiatry 2015,23:141-148.
29.Alghamdi A,Vallortigara J,Howlett DR,Broadstock M,Hortobagyi T,Ballard C,et al.Reduction of RPT6/S8(a Proteasome Component)and proteasome activity in the cortex is associated with cognitive impairment in Lewy body dementia.J Alzheimers Dis 2017,57:373-386.
30.Bereczki E,Francis PT,Howlett D,Pereira JB,Hoglund K,Bogstedt A,et al.Synaptic proteins predict cognitive decline in Alzheimer’s disease and Lewy body dementia.Alzheimers Dement 2016,12:1149-1158.
31.Bereczki E,Branca RM,Francis PT,Pereira JB,Baek JH,Hortobagyi T,et al.Synaptic markers of cognitive decline in neurodegenerative diseases:a proteomic approach.Brain 2018,141:582-595.
32.Datta A,Chai YL,Tan JM,Lee JH,Francis PT,Chen CP,et al.An iTRAQ-based proteomic analysis reveals dysregulation of neocortical synaptopodin in Lewy body dementias.Mol Brain2017,10:36.
33.Xing H,Lim YA,Chong JR,Lee JH,Aarsland D,Ballard CG,et al.Increased phosphorylation of collapsin response mediator protein-2 at Thr514 correlates with beta-amyloid burden and synaptic deficits in Lewy body dementias.Mol Brain 2016,9:84.
34.Ferrero H,Larrayoz IM,Martisova E,Solas M,Howlett DR,Francis PT,et al.Increased levels of brain adrenomedullin in the neuropathology of Alzheimer’s disease.Mol Neurobiol 2018,55:5177-5183.
35.Kirvell SL,Esiri MM,Francis PT.Down regulation of vesicular glutamate transporters precede cell loss and pathology in Alzheimer’s disease.J Neurochem 2006,98:939-950.
36.Cummings JL,Mega M,Gray K,Rosenberg-Thompson S,Carusi DA,Gornbein J.The neuropsychiatric inventory-comprehensive assessment of psychopathology in dementia.Neurology 1994,44:2308-2314.
37.Whitfield DR,Vallortigara J,Alghamdi A,Howlett D,Hortobagyi T,Johnson M,et al.Assessment of ZnT3 and PSD95protein levels in Lewy body dementias and Alzheimer’s disease:association with cognitive impairment.Neurobiol Aging 2014,35:2836-2844.
38.Vallortigara J,Rangarajan S,Whitfield D,Alghamdi A,Howlett D,Hortobagyi T,et al.Dynamin1 concentration in the prefrontal cortex is associated with cognitive impairment in Lewy body dementia.F1000Res 2014,3:108.
39.Finnema SJ,Nabulsi NB,Eid T,Detyniecki K,Lin SF,Chen MK,et al.Imaging synaptic density in the living human brain.Sci Transl Med 2016,8:348ra396.
40.Colom-Cadena M,Pegueroles J,Herrmann AG,Henstridge CM,Munoz L,Querol-Vilaseca M,et al.Synaptic phosphorylated alpha-synuclein in dementia with Lewy bodies.Brain 2017,140:3204-3214.
41.Hannon E,Lunnon K,Schalkwyk L,Mill J.Interindividual methylomic variation across blood,cortex,and cerebellum:implications for epigenetic studies of neurological and neuropsychiatric phenotypes.Epigenetics 2015,10:1024-1032.
42.Dammer EB,Duong DM,Diner I,Gearing M,Feng Y,Lah JJ,et al.Neuron enriched nuclear proteome isolated from human brain.J Proteome Res 2013,12:3193-3206.