Evaluation of Soluble Colony Stimulating Factor 1 Receptor (CSF1R) in Peripheral Blood as a Diagnostic Marker of CSF1R‐Related Disorder (CSF1R‐RD) in a Murine Model and CSF1R‐RD Patients
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DOI: 10.1002/ana.27147
Abstract: Mutations in colony stimulating factor 1 receptor (CSF1R) result in CSF1R‐related disorder (CSF1R‐RD). Our previous study demonstrated a proteolytic generation of a soluble CSF1R (sCSF1R) that could potentially serve as a diagnostic biomarker of CSF1R‐RD.… read more here.
Keywords: csf1r; stimulating factor; receptor csf1r; csf1r related ... See more keywords
Is Pre‐Symptomatic Immunosuppression Protective in CSF1R‐Related Leukoencephalopathy?
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DOI: 10.1002/mds.28515
Abstract: Adult-onset leukoencephalopathy with spheroids and pigmented glia (ALSP) is the collective disease referring to patients previously diagnosed with hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) or pigmented orthochromatic leukodystrophy (POLD). ALSP is a white matter… read more here.
Keywords: csf1r; pre symptomatic; disease; related leukoencephalopathy ... See more keywords
Neuropathological Findings of CSF1R‐Related Leukoencephalopathy After Long‐Term Immunosuppressive Therapy
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DOI: 10.1002/mds.28919
Abstract: Neuropathological Findings of CSF1R-Related Leukoencephalopathy After LongTerm Immunosuppressive Therapy We previously reported in this journal a 71-year-old woman who was an asymptomatic carrier of the CSF1R gene mutation (MIM 164770, p.M875I, c.2625G>A, NM_005211.3). Her daughter… read more here.
Keywords: csf1r related; immunosuppressive therapy; related leukoencephalopathy; findings csf1r ... See more keywords
The Phenotypic and Genotypic Spectrum of CSF1R‐Related Disorder in China
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DOI: 10.1002/mds.29764
Abstract: Colony‐stimulating factor 1 receptor (CSF1R)‐related disorder (CRD) is a rare autosomal dominant disease. The clinical and genetic characteristics of Chinese patients have not been elucidated. read more here.
Keywords: phenotypic genotypic; csf1r related; genotypic spectrum; related disorder ... See more keywords
Four Swedish cases of CSF1R-related leukoencephalopathy: Visualization of clinical phenotypes.
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DOI: 10.1111/ane.13589
Abstract: Colony stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy is a rare, genetic disease caused by heterozygous mutations in the CSF1R gene with rapidly progressive neurodegeneration, behavioral, cognitive, motor disturbances. OBJECTIVE To describe four cases of CSF1R-related… read more here.
Keywords: csf1r related; visualization; related leukoencephalopathy; cases csf1r ... See more keywords
Dynamic analysis of CSF1R-related leukoencephalopathy on magnetic resonance imaging: a case report
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DOI: 10.1186/s12883-021-02182-z
Abstract: Background Colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy is a rare and rapidly progressive leukoencephalopathy characterized by cognitive, motor, and neuropsychiatric symptoms, which is often misdiagnosed. Magnetic resonance imaging (MRI) signs and follow-up MRI of CSF1R-related leukoencephalopathy… read more here.
Keywords: csf1r related; magnetic resonance; resonance imaging; related leukoencephalopathy ... See more keywords
Microglial replacement therapy: a potential therapeutic strategy for incurable CSF1R-related leukoencephalopathy
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DOI: 10.1186/s40478-020-01093-3
Abstract: CSF1R -related leukoencephalopathy is an adult-onset leukoencephalopathy with axonal spheroids and pigmented glia caused by colony stimulating factor 1 receptor (CSF1R) gene mutations. The disease has a global distribution and currently has no cure. Individuals… read more here.
Keywords: potential therapeutic; csf1r related; microglial replacement; related leukoencephalopathy ... See more keywords
Novel Application of 7T MRI in CSF1R-Related Leukoencephalopathy
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DOI: 10.1212/wnl.0000000000201450
Abstract: A 24-year-old woman underwent screening for a family history of early-onset dementia and CSF1R-related leukoencephalopathy in her mother. The patient had no symptoms, and the neurologic examination was normal. Three Tesla (3T) brain MRI revealed… read more here.
Keywords: application mri; mri csf1r; csf1r related; related leukoencephalopathy ... See more keywords
Distinct patterns of white matter hyperintensity and cortical thickness of CSF1R-related leukoencephalopathy compared with subcortical ischemic vascular dementia
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DOI: 10.1371/journal.pone.0308989
Abstract: Background CSF1R-related leukoencephalopathy is a type of autosomal dominant leukodystrophy caused by mutations in the colony stimulating factor 1 receptor (CSF1R) gene. Subcortical ischemic vascular dementia (SIVaD), which is caused by cerebral small vessel disease,… read more here.
Keywords: related leukoencephalopathy; csf1r related; white matter; cortical thickness ... See more keywords