CSF1R-related leukoencephalopathy: A major player in primary microgliopathies
TLDR
The current knowledge of CSF1R-related leukoencephalopathy is addressed and the putative pathophysiology is discussed, with a focus on microglia, as well as future research directions.Citations
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The M-CSF receptor in osteoclasts and beyond.
TL;DR: The authors largely focus on bone conditions, highlighting mouse studies in which CSF1R-blocking drugs were shown to ameliorate bone loss and inflammatory symptoms in models of arthritis, osteoporosis and metastatic cancer.
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Phenotypic impacts of CSF1R deficiencies in humans and model organisms
David A. Hume,Melanie Caruso,Michelle Ferrari-Cestari,Kim M. Summers,Clare Pridans,Katharine M. Irvine +5 more
TL;DR: The evidence that CSF1R is expressed exclusively in mononuclear phagocytes is outlined and the mechanisms linking Csf1R mutations to pleiotropic impacts on postnatal growth and development are explored.
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Uncovering sex differences of rodent microglia.
TL;DR: A detailed understanding of molecular processes underlying microglial sex differences is of major importance in design of translational sex- and microglia-specific therapeutic approaches as mentioned in this paper, which has been relatively unexplored until recently.
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Microglial Homeostasis Requires Balanced CSF-1/CSF-2 Receptor Signaling.
Violeta Chitu,Fabrizio Biundo,Gabriel G. L. Shlager,Eun S. Park,Ping Wang,Maria Gulinello,Solen Gokhan,Harmony C. Ketchum,Kusumika Saha,Michael DeTure,Dennis W. Dickson,Zbignew K. Wszolek,Deyou Zheng,Andrew L. Croxford,Burkhard Becher,Daqian Sun,Mark F. Mehler,E. Richard Stanley +17 more
TL;DR: It is shown that monoallelic deletion of Csf2 rescues most behavioral deficits and histopathological changes in Csf1r+/- mice by preventing microgliosis and eliminating most microglial transcriptomic alterations, including those indicative of oxidative stress and demyelination.
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Loss of homeostatic microglial phenotype in CSF1R- related Leukoencephalopathy
Liam Kempthorne,Liam Kempthorne,Hyejin Yoon,Charlotte Madore,Scott T. Smith,Zbigniew K. Wszolek,Rosa Rademakers,Jungsu Kim,Oleg Butovsky,Dennis W. Dickson +9 more
TL;DR: The findings suggest a potential mechanism of disease pathogenesis by linking aberrant CSF-1 signaling to altered microglial phenotype and support the idea that HDLS may be a primary microgliopathy.
References
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Journal ArticleDOI
Microglia in neurodegenerative disease
TL;DR: The persistence of activated microglia long after acute injury and in chronic disease suggests that these cells have an innate immune memory of tissue injury and degeneration, and could contribute to the outcome of neurodegenerative diseases.
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Microglia and brain macrophages in the molecular age: from origin to neuropsychiatric disease.
Marco Prinz,Josef Priller +1 more
TL;DR: The vulnerability of microglia to dysfunction is described and it is proposed that myelomonocytic cells might be used in the treatment of neurological and psychiatric disorders that are characterized by primary or secondary 'microgliopathy'.
Journal ArticleDOI
CSF-1 regulation of the wandering macrophage: complexity in action
TL;DR: Because CSF-1 regulates the survival, proliferation and chemotaxis of macrophages and supports their activation, this factor is involved in the pathogenesis of several diseases.
Journal ArticleDOI
Mutations in the colony stimulating factor 1 receptor ( CSF1R ) gene cause hereditary diffuse leukoencephalopathy with spheroids
Rosa Rademakers,Matt Baker,Alexandra M. Nicholson,Nicola J. Rutherford,Nicole A. Finch,Alexandra I. Soto-Ortolaza,Jennifer Lash,Christian Wider,Christian Wider,Aleksandra Wojtas,Mariely DeJesus-Hernandez,Jennifer Adamson,Naomi Kouri,Christina Sundal,Christina Sundal,Elizabeth A. Shuster,Jan O. Aasly,James MacKenzie,Sigrun Roeber,Hans A. Kretzschmar,Bradley F. Boeve,David S. Knopman,Ronald C. Petersen,Nigel J. Cairns,Bernardino Ghetti,Salvatore Spina,James Y. Garbern,Alexandros Tselis,Ryan J. Uitti,Pritam Das,Jay A. van Gerpen,James F. Meschia,Shawn Levy,Daniel F. Broderick,Neill R. Graff-Radford,Owen A. Ross,Bradley Miller,Russell H. Swerdlow,Dennis W. Dickson,Zbigniew K. Wszolek +39 more
TL;DR: It is suggested that HDLS may result from partial loss of CSF1R function, and an important role for microglial dysfunction in HDLS pathogenesis is suggested.
Journal ArticleDOI
Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.
TL;DR: A novel classification of leukodystrophies is proposed that takes into account the primary involvement of any white matter component, and Categories in this classification are the myelin disorders due to a primary defect in oligodendrocytes or myelin; astrocytopathies; leuko-axonopathies; microgliopathy; andLeuko-vasculopathies.
Related Papers (5)
Mutations in the colony stimulating factor 1 receptor ( CSF1R ) gene cause hereditary diffuse leukoencephalopathy with spheroids
Rosa Rademakers,Matt Baker,Alexandra M. Nicholson,Nicola J. Rutherford,Nicole A. Finch,Alexandra I. Soto-Ortolaza,Jennifer Lash,Christian Wider,Christian Wider,Aleksandra Wojtas,Mariely DeJesus-Hernandez,Jennifer Adamson,Naomi Kouri,Christina Sundal,Christina Sundal,Elizabeth A. Shuster,Jan O. Aasly,James MacKenzie,Sigrun Roeber,Hans A. Kretzschmar,Bradley F. Boeve,David S. Knopman,Ronald C. Petersen,Nigel J. Cairns,Bernardino Ghetti,Salvatore Spina,James Y. Garbern,Alexandros Tselis,Ryan J. Uitti,Pritam Das,Jay A. van Gerpen,James F. Meschia,Shawn Levy,Daniel F. Broderick,Neill R. Graff-Radford,Owen A. Ross,Bradley Miller,Russell H. Swerdlow,Dennis W. Dickson,Zbigniew K. Wszolek +39 more
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia.
Nynke Oosterhof,Irene J. Chang,Ehsan Ghayoor Karimiani,Laura E. Kuil,Dana M. Jensen,Ray A. M. Daza,Erica Young,Lee Astle,Herma C. van der Linde,Giridhar M. Shivaram,Jeroen Demmers,Caitlin S. Latimer,C. Dirk Keene,Emily Loter,Reza Maroofian,Tjakko J. van Ham,Robert F. Hevner,James T. Bennett +17 more