4.6 Review

Recent Advances in Basic Research for CSF1R-Microglial Encephalopathy

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Clinical Neurology

A novel mutation in CSF1R associated with hereditary diffuse leukoencephalopathy with spheroids

Qin Du et al.

Summary: A novel missense mutation, p.L755P, in the CSF1R gene was identified in a Chinese family with autosomal-dominant HDLS, expanding the genetic spectrum of CSF1R-associated HDLS. Three patients in the family showed typical manifestations of HDLS, while a 10-year-old gene carrier remains asymptomatic. Brain MRI revealed diffuse white matter changes in affected individuals.

NEUROLOGICAL SCIENCES (2022)

Article Clinical Neurology

Evaluation of CSF1R-related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria

Xavier Ayrignac et al.

Summary: The diagnostic criteria for ALSP have limited sensitivity and modest specificity overall, suggesting the need for a comprehensive approach including magnetic resonance imaging pattern-based analysis and genetic testing like white matter gene panel or whole exome sequencing in patients suspected of genetic leukoencephalopathy.

EUROPEAN JOURNAL OF NEUROLOGY (2022)

Article Genetics & Heredity

Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features

Erdem Kindis et al.

Summary: CSF1R gene mutations can cause different diseases, including HDLS and BANDDOS, both of which have distinct pathological features and clinical symptoms involving the nervous and skeletal systems.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

Article Clinical Neurology

Clinical and genetic characterization of adult-onset leukoencephalopathy caused by CSF1R mutations

Pei-Chien Tsai et al.

Summary: CSF1R mutations account for 3.5% of adult-onset leukoencephalopathy in Taiwan, leading to cognitive decline, psychiatric symptoms, and rapid deterioration of cognitive function in affected patients.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2021)

Article Immunology

Triggering Receptor Expressed on Myeloid Cells-2 (TREM2) Interacts With Colony-Stimulating Factor 1 Receptor (CSF1R) but Is Not Necessary for CSF1/CSF1R-Mediated Microglial Survival

Baoying Cheng et al.

Summary: TREM2 and CSF1R interact directly in microglia cells, modulating their expression levels. Administration of CSF1 partially restores the survival ability of Trem2-deficient microglia, showing potential therapeutic intervention in TREM2 variant-bearing patients with a high risk of Alzheimer's disease.

FRONTIERS IN IMMUNOLOGY (2021)

Article Clinical Neurology

Treatment of CSF1R-Related Leukoencephalopathy: Breaking New Ground

Philip W. Tipton et al.

Summary: The study found that HSCT treatment for CSF1R-related leukoencephalopathy can stabilize the disease in some patients, but there is variability in patient responsiveness. Therefore, measures of disease heterogeneity and severity should be considered when evaluating a patient's candidacy for transplant.

MOVEMENT DISORDERS (2021)

Article Multidisciplinary Sciences

Microglial dyshomeostasis drives perineuronal net and synaptic loss in a CSF1R+/- mouse model of ALSP, which can be rescued via CSF1R inhibitors

Miguel A. Arreola et al.

Summary: The study showed that microglial CSF1R haploinsufficiency leads to microglial dysregulation, characterized by reduced expression of cellular markers, and synaptic and extracellular matrix deficits. Treatment with a CSF1R inhibitor prevented these abnormalities, highlighting the potential therapeutic benefit of targeting CSF1R in mitigating the pathogenesis of the disease.

SCIENCE ADVANCES (2021)

Article Oncology

Three novel mutations in Chinese patients with CSF1R-related leukoencephalopathy

Min Chu et al.

Summary: This study conducted whole-exome sequencing on nine Chinese patients with ALSP, identifying seven CSF1R mutations, including four known and three novel mutations. These findings expand the understanding of the mutational spectrum of ALSP and provide a basis for future research on etiologic factors and potential management strategies.

ANNALS OF TRANSLATIONAL MEDICINE (2021)

Article Clinical Neurology

A case of CSF1R-related leukoencephalopathy: serial neuroimaging and neuropsychological tests

Eun Hee Sohn et al.

Summary: CSF1R-related leukoencephalopathy is a common cause of adult-onset leukodystrophy, caused by mutation of the CSF1R gene. Brain MRI findings in asymptomatic patients may not be well recognized, as shown in this representative case tracking the progression of the disease.

NEUROCASE (2021)

Article Cell Biology

Microglial Homeostasis Requires Balanced CSF-1/CSF-2 Receptor Signaling

Violeta Chitu et al.

CELL REPORTS (2020)

Article Biochemistry & Molecular Biology

Repopulating Microglia Promote Brain Repair in an IL-6-Dependent Manner

Emily F. Willis et al.

Article Multidisciplinary Sciences

CSF1R inhibition by a small-molecule inhibitor is not microglia specific; affecting hematopoiesis and the function of macrophages

Fengyang Lei et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)

Article Clinical Neurology

Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

Fanny Mochel et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2019)

Review Neurosciences

Emerging Roles for CSF-1 Receptor and its Ligands in the Nervous System

Violeta Chitu et al.

TRENDS IN NEUROSCIENCES (2016)

Review Neurosciences

Microglia and brain macrophages in the molecular age: from origin to neuropsychiatric disease

Marco Prinz et al.

NATURE REVIEWS NEUROSCIENCE (2014)

Article Clinical Neurology

CSF1R mutations link POLD and HDLS as a single disease entity

Alexandra M. Nicholson et al.

NEUROLOGY (2013)

Article Clinical Neurology

Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations

Christina Sundal et al.

PARKINSONISM & RELATED DISORDERS (2013)

Article Multidisciplinary Sciences

CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function

Clare Pridans et al.

SCIENTIFIC REPORTS (2013)