Molecular nexopathies: a new paradigm of neurodegenerative disease

Trends in Neurosciences - Tập 36 - Trang 561-569 - 2013
Jason D. Warren1, Jonathan D. Rohrer1, Jonathan M. Schott1, Nick C. Fox1, John Hardy2, Martin N. Rossor1
1Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, University College London, London, UK
2Reta Lilla Weston Laboratories and Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK

Tài liệu tham khảo

Hagmann, 2008, Mapping the structural core of human cerebral cortex, PLoS Biol., 6, e159, 10.1371/journal.pbio.0060159 Bullmore, 2009, Complex brain networks: graph theoretical analysis of structural and functional systems, Nat. Rev. Neurosci., 10, 186, 10.1038/nrn2575 Palop, 2006, A network dysfunction perspective on neurodegenerative diseases, Nature, 443, 768, 10.1038/nature05289 Pievani, 2011, Functional network disruption in the degenerative dementias, Lancet Neurol., 10, 829, 10.1016/S1474-4422(11)70158-2 Catani, 2007, From hodology to function, Brain, 130, 602, 10.1093/brain/awm008 Modha, 2010, Network architecture of the long-distance pathways in the macaque brain, Proc. Natl. Acad. Sci. U.S.A., 107, 13485, 10.1073/pnas.1008054107 Seeley, 2009, Neurodegenerative diseases target large-scale human brain networks, Neuron, 62, 42, 10.1016/j.neuron.2009.03.024 Raj, 2012, A network diffusion model of disease progression in dementia, Neuron, 73, 1204, 10.1016/j.neuron.2011.12.040 Zhou, 2012, Predicting regional neurodegeneration from the healthy brain functional connectome, Neuron, 73, 1216, 10.1016/j.neuron.2012.03.004 Small, 2008, Network dysfunction in Alzheimer's disease: does synaptic scaling drive disease progression?, Trends Mol. Med., 14, 103, 10.1016/j.molmed.2007.12.006 Filippi, 2011, Structural and functional network connectivity breakdown in Alzheimer's disease studied with magnetic resonance imaging techniques, J. Alzheimers Dis., 24, 455, 10.3233/JAD-2011-101854 Hughes, 2013, Reorganisation of brain networks in frontotemporal dementia and progressive supranuclear palsy, Neuroimage Clin., 2, 459, 10.1016/j.nicl.2013.03.009 Gardner, 2013, Intrinsic connectivity network disruption in progressive supranuclear palsy, Ann. Neurol., 73, 603, 10.1002/ana.23844 Scahill, 2002, Mapping the evolution of regional atrophy in Alzheimer's disease: unbiased analysis of fluid-registered serial MRI, Proc. Natl. Acad. Sci. U.S.A., 99, 4703, 10.1073/pnas.052587399 Warren, 2012, The paradox of syndromic diversity in Alzheimer disease, Nat. Rev. Neurol., 8, 451, 10.1038/nrneurol.2012.135 Rohrer, 2010, TDP-43 subtypes are associated with distinct atrophy patterns in frontotemporal dementia, Neurology, 75, 2204, 10.1212/WNL.0b013e318202038c Rohrer, 2010, Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations, Neuroimage, 53, 1070, 10.1016/j.neuroimage.2009.12.088 Rohrer, 2011, Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration, Brain, 134, 2565, 10.1093/brain/awr198 Mackenzie, 2011, A harmonized classification system for FTLD-TDP pathology, Acta Neuropathol., 122, 111, 10.1007/s00401-011-0845-8 Whitwell, 2012, Neuroimaging in frontotemporal lobar degeneration; predicting molecular pathology, Nat. Rev. Neurol., 8, 131, 10.1038/nrneurol.2012.7 Whitwell, 2012, Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics, Brain, 135, 794, 10.1093/brain/aws001 Whitwell, 2012, Frontal asymmetry in behavioral variant frontotemporal dementia: clinicoimaging and pathogenetic correlates, Neurobiol. Aging, 34, 636, 10.1016/j.neurobiolaging.2012.03.009 Agosta, 2012, Neuroimaging findings in frontotemporal lobar degeneration spectrum of disorders, Cortex, 48, 389, 10.1016/j.cortex.2011.04.012 Tsuji, 2012, Molecular analysis and biochemical classification of TDP-43 proteinopathy, Brain, 135, 3380, 10.1093/brain/aws230 Collinge, 2007, A general model of prion strains and their pathogenicity, Science, 318, 930, 10.1126/science.1138718 Frost, 2010, Prion-like mechanisms in neurodegenerative diseases, Nat. Rev. Neurosci., 11, 155, 10.1038/nrn2786 Bak, 2012, What wires together dies together: verbs, actions and neurodegeneration in motor neuron disease, Cortex, 48, 936, 10.1016/j.cortex.2011.07.008 Nussbaum, 2012, Prion-like behaviour and tau-dependent cytotoxicity of pyroglutamylated amyloid-ß, Nature, 485, 651, 10.1038/nature11060 Garden, 2012, Intercellular (mis)communication in neurodegenerative disease, Neuron, 73, 886, 10.1016/j.neuron.2012.02.017 Warren, 2012, Disintegrating brain networks: from syndromes to molecular nexopathies, Neuron, 73, 1060, 10.1016/j.neuron.2012.03.006 Baker, 1994, Induction of beta (A4)-amyloid in primates by injection of Alzheimer's disease brain homogenate. Comparison with transmission of spongiform encephalopathy, Mol. Neurobiol., 8, 25, 10.1007/BF02778005 Meyer-Luehmann, 2006, Exogenous induction of cerebral beta-amyloidogenesis is governed by agent and host, Science, 313, 1781, 10.1126/science.1131864 Eisele, 2010, Peripherally applied Abeta-containing inoculates induce cerebral beta-amyloidosis, Science, 330, 980, 10.1126/science.1194516 Schott, 2006, Apolipoprotein E genotype modifies the phenotype of Alzheimer disease, Arch. Neurol., 63, 155, 10.1001/archneur.63.1.155 Agosta, 2009, Apolipoprotein E epsilon4 is associated with disease-specific effects on brain atrophy in Alzheimer's disease and frontotemporal dementia, Proc. Natl. Acad. Sci. U.S.A., 106, 2018, 10.1073/pnas.0812697106 Lace, 2009, Hippocampal tau pathology is related to neuroanatomical connections: an ageing population-based study, Brain, 132, 1324, 10.1093/brain/awp059 Grove, 2003, Generating the cerebral cortical area map, Annu. Rev. Neurosci., 26, 355, 10.1146/annurev.neuro.26.041002.131137 Jessell, 2000, Development. The decade of the developing brain, Curr. Opin. Neurobiol., 10, 599, 10.1016/S0959-4388(00)00136-7 Dasen, 2005, A Hox regulatory network establishes motor neuron pool identity and target-muscle connectivity, Cell, 123, 477, 10.1016/j.cell.2005.09.009 Double, 2010, Selective cell death in neurodegeneration: why are some neurons spared in vulnerable regions?, Prog. Neurobiol., 92, 316, 10.1016/j.pneurobio.2010.06.001 Milanesi, 2013, Molecular signature of disease onset in Granulin mutation carriers: a gene expression analysis study, Neurobiol. Aging, 34, 1837, 10.1016/j.neurobiolaging.2012.11.016 Zawia, 2005, Environmental risk factors and the developmental basis for Alzheimer's disease, Rev. Neurosci., 16, 325, 10.1515/REVNEURO.2005.16.4.325 Mesulam, 2009, Defining neurocognitive networks in the BOLD new world of computed connectivity, Neuron, 62, 1, 10.1016/j.neuron.2009.04.001 Wickens, 1995, Effects of local connectivity on striatal function: stimulation and analysis of a model, Synapse, 20, 281, 10.1002/syn.890200402 Zappone, 2001, Commissurally projecting inhibitory interneurons of the rat hippocampal dentate gyrus: a colocalization study of neuronal markers and the retrograde tracer Fluoro-gold, J. Comp. Neurol., 441, 324, 10.1002/cne.1415 Somogyi, 2005, Defined types of cortical interneurone structure space and spike timing in the hippocampus, J. Physiol., 562, 9, 10.1113/jphysiol.2004.078915 Roberts, 1993, On the origin of Alzheimer's disease: a hypothesis, Neuroreport, 4, 7, 10.1097/00001756-199301000-00001 McMillan, 2008, Tau isoform regulation is region- and cell-specific in mouse brain, J. Comp. Neurol., 511, 788, 10.1002/cne.21867 Hara, 2013, Isoform transition from four-repeat to three-repeat tau underlies dendrosomatic and regional progression of neurofibrillary pathology, Acta Neuropathol., 125, 565, 10.1007/s00401-013-1097-6 Zhang, 2004, Retarded axonal transport of R406W mutant tau in transgenic mice with a neurodegenerative tauopathy, J. Neurosci., 24, 4657, 10.1523/JNEUROSCI.0797-04.2004 Ikeda, 2005, Accumulation of filamentous tau in the cerebral cortex of human tau R406W transgenic mice, Am. J. Pathol., 166, 521, 10.1016/S0002-9440(10)62274-2 Lobsiger, 2007, Glial cells as intrinsic components of non-cell-autonomous neurodegenerative disease, Nat. Neurosci., 10, 1355, 10.1038/nn1988 Mesulam, 1998, From sensation to cognition, Brain, 121, 1013, 10.1093/brain/121.6.1013 Shimizu, 2004, Information flow and emergence of the global patterns in connected neural networks, Phys. A, 333, 478, 10.1016/j.physa.2003.10.032 De Haan, 2012, Activity dependent degeneration explains hub vulnerability in Alzheimer's disease, PLoS Comput. Biol., 8, e1002582, 10.1371/journal.pcbi.1002582 Kang, 2009, Amyloid-beta dynamics are regulated by orexin and the sleep-wake cycle, Science, 326, 1005, 10.1126/science.1180962 Winklhofer, 2008, The two faces of protein misfolding: gain- and loss-of-function in neurodegenerative diseases, EMBO J., 27, 336, 10.1038/sj.emboj.7601930 Wirths, 2006, Axonopathy in an APP/PS1 transgenic mouse model of Alzheimer's disease, Acta Neuropathol., 111, 312, 10.1007/s00401-006-0041-4 Fransson, 2008, The precuneus/posterior cingulate cortex plays a pivotal role in the default mode network: Evidence from a partial correlation network analysis, Neuroimage, 42, 1178, 10.1016/j.neuroimage.2008.05.059 Saavedra, 2011, Strong contributors to network persistence are the most vulnerable to extinction, Nature, 478, 233, 10.1038/nature10433 Gee, 2011, Low frequency fluctuations reveal integrated and segregated processing among the cerebral hemispheres, Neuroimage, 54, 517, 10.1016/j.neuroimage.2010.05.073 Halliday, 2012, Mechanisms of disease in frontotemporal lobar degeneration: gain of function versus loss of function effects, Acta Neuropathol., 124, 373, 10.1007/s00401-012-1030-4 Li, 1999, Computational differences between asymmetrical and symmetrical networks, Network, 10, 59, 10.1088/0954-898X_10_1_004 Smeal, 2010, Phase-response curves and synchronized neural networks, Philos. Trans. R. Soc. B, 365, 2407, 10.1098/rstb.2009.0292 Devenport, 2008, Planar polarization in embryonic epidermis orchestrates global asymmetric morphogenesis of hair follicles, Nat. Cell Biol., 10, 1257, 10.1038/ncb1784 Posada, 1999, The role of neuronal death during the development of topographically ordered projections: a computational approach, Biol. Cybern., 81, 239, 10.1007/s004220050559 Piscopo, 2010, Hypoxia induces up-regulation of progranulin in neuroblastoma cell lines, Neurochem. Int., 57, 893, 10.1016/j.neuint.2010.09.008 Beck, 2008, A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series, Brain, 131, 706, 10.1093/brain/awm320 Whitwell, 2011, Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN, Neurology, 77, 393, 10.1212/WNL.0b013e318227047f Kertesz, 2005, The evolution and pathology of frontotemporal dementia, Brain, 128, 1996, 10.1093/brain/awh598 Brettschneider, 2013, Stages of pTDP-43 pathology in amyotrophic lateral sclerosis, Ann. Neurol., 10.1002/ana.23937 Polymenidou, 2011, The seeds of neurodegeneration: prion-like spreading in ALS, Cell, 147, 498, 10.1016/j.cell.2011.10.011 Agosta, 2012, Resting state fMRI in Alzheimer's disease: beyond the default mode network, Neurobiol. Aging, 33, 1564, 10.1016/j.neurobiolaging.2011.06.007 Whitwell, 2011, Altered functional connectivity in asymptomatic MAPT subjects: a comparison to bvFTD, Neurology, 77, 866, 10.1212/WNL.0b013e31822c61f2 Rohrer, 2008, Tracking progression in frontotemporal lobar degeneration: serial MRI in semantic dementia, Neurology, 71, 1445, 10.1212/01.wnl.0000327889.13734.cd Chiong, 2013, The salience network causally influences default mode network activity during moral reasoning, Brain, 136, 1929, 10.1093/brain/awt066 Jessell, 1990, Carbohydrates and carbohydrate-binding proteins in the nervous system, Annu. Rev. Neurosci., 13, 227, 10.1146/annurev.ne.13.030190.001303 Seung, 2009, Reading the book of memory: sparse sampling versus dense mapping of connectomes, Neuron, 62, 17, 10.1016/j.neuron.2009.03.020 Salehi, 2006, Increased App expression in a mouse model of Down's syndrome disrupts NGF transport and causes cholinergic neuron degeneration, Neuron, 51, 29, 10.1016/j.neuron.2006.05.022 Woo, 2006, Regulation of cortical interneurons by neurotrophins: from development to cognitive disorders, Neuroscientist, 12, 43, 10.1177/1073858405284360 Grant, 2003, Synapse signalling complexes and networks: machines underlying cognition, Bioessays, 25, 1229, 10.1002/bies.10381 Paraoanu, 2008, Acetylcholinesterase in cell adhesion, neurite growth and network formation, FEBS J., 275, 618, 10.1111/j.1742-4658.2007.06237.x Pietri, 2006, Overstimulation of PrPC signaling pathways by prion peptide 106-126 causes oxidative injury of bioaminergic neuronal cells, J. Biol. Chem., 281, 28470, 10.1074/jbc.M602774200 Shen, 2008, Dichotomous dopaminergic control of striatal synaptic plasticity, Science, 321, 848, 10.1126/science.1160575 Aguzzi, 2009, The transcellular spread of cytosolic amyloids, prions, and prionoids, Neuron, 64, 783, 10.1016/j.neuron.2009.12.016 Hardy, 2012, The spread of neurodegenerative disease, N. Engl. J. Med., 366, 2126, 10.1056/NEJMcibr1202401 Clavaguera, 2009, Transmission and spreading of tauopathy in transgenic mouse brain, Nat. Cell Biol., 11, 909, 10.1038/ncb1901 Frost, 2009, Propagation of tau misfolding from the outside to the inside of a cell, J. Biol. Chem., 284, 12845, 10.1074/jbc.M808759200 Liu, 2012, Trans–synaptic spread of tau pathology in vivo, PLoS ONE, 7, e31302, 10.1371/journal.pone.0031302 De Calignon, 2012, Propagation of tau pathology in a model of early Alzheimer's disease, Neuron, 73, 685, 10.1016/j.neuron.2011.11.033 Volpicelli-Daley, 2011, Exogenous a-synuclein fibrils induce Lewy body pathology leading to synaptic dysfunction and neuron death, Neuron, 72, 57, 10.1016/j.neuron.2011.08.033 Dunning, 2012, Can Parkinson's disease pathology be propagated from one neuron to another?, Prog. Neurobiol., 97, 205, 10.1016/j.pneurobio.2011.11.003 Whitwell, 2007, Rates of cerebral atrophy differ in different degenerative pathologies, Brain, 130, 1148, 10.1093/brain/awm021 Acosta-Cabronero, 2011, Atrophy, hypometabolism and white matter abnormalities in semantic dementia tell a coherent story, Brain, 134, 2025, 10.1093/brain/awr119 Goll, 2012, Nonverbal sound processing in semantic dementia: a functional MRI study, Neuroimage, 61, 170, 10.1016/j.neuroimage.2012.02.045 Braak, 2011, Alzheimer's pathogenesis: is there neuron-to-neuron propagation?, Acta Neuropathol., 121, 589, 10.1007/s00401-011-0825-z Von Gunten, 2006, Neural substrates of cognitive and behavioral deficits in atypical Alzheimer's disease, Brain Res. Rev., 51, 176, 10.1016/j.brainresrev.2005.11.003 Guest, 2011, Generalization of the prion hypothesis to other neurodegenerative diseases: an imperfect fit, J. Toxicol. Environ. Health A, 74, 1433, 10.1080/15287394.2011.618967 Shi, 2012, Human cerebral cortex development from pluripotent stem cells to functional excitatory synapses, Nat. Neurosci., 15, 477, 10.1038/nn.3041 Lambon Ralph, 2010, Coherent concepts are computed in the anterior temporal lobes, Proc. Natl. Acad. Sci. U.S.A., 107, 2717, 10.1073/pnas.0907307107 Rohrer, 2012, GENFI: The GENetic Frontotemporal dementia Dement Initiative, Dement. Geriatr. Cogn. Disord., 34, 1 Feigin, 2007, Modulation of metabolic brain networks after subthalamic gene therapy for Parkinson's disease, Proc. Natl. Acad. Sci. U.S.A., 104, 19559, 10.1073/pnas.0706006104 Graf, 1998, Inhibitory neuronal activity can compensate for adverse effects of beta-amyloid in hippocampal neurons, Brain Res., 786, 115, 10.1016/S0006-8993(97)01451-0