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Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP
CSF1R mutations cause autosomal-dominant CSF1R -related leukoencephalopathy with axonal spheroids and pigmented glia ( CSF1R -ALSP) and...
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Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy
Tissue-resident macrophages of the brain, including microglia, are implicated in the pathogenesis of various CNS disorders and are possible...
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Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia by a novel mutation of the CSF1R gene
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare autosomal dominant disorder caused by mutations in the...
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Biopsy histopathology in the diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
AimAdult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is an inherited rare disease affecting young adults. We present...
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Genetic landscape of early-onset dementia in Hungary
IntroductionEarly-onset dementias (EOD) are predominantly genetically determined, but the underlying disease-causing alterations are often unknown....
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Adult-onset autosomal dominant leukodystrophy and neuronal intranuclear inclusion disease: lessons from two new Chinese families
IntroductionAdult-onset autosomal dominant leukodystrophy (ADLD) is a rare genetic leukoencephalopathy caused by duplication of the lamin B1 gene ( LMNB1...
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Update on leukodystrophies and develo** trials
Leukodystrophies are a heterogeneous group of rare genetic disorders primarily affecting the white matter of the central nervous system. These...
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Fetal heart foramen ovale area by three-dimensional ultrasound using stic in the rendering mode: reference range and applicability in congenital heart diseases
To determine reference values for the foramen ovale (FO) area of fetal hearts by three-dimensional (3D) ultrasound using spatio-temporal image...
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Dynamic analysis of CSF1R-related leukoencephalopathy on magnetic resonance imaging: a case report
BackgroundColony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy is a rare and rapidly progressive leukoencephalopathy...
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White matter microglia heterogeneity in the CNS
Microglia, the resident myeloid cells in the central nervous system (CNS) play critical roles in sha** the brain during development, responding to...
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Distinctive diffusion-weighted imaging features in late-onset genetic leukoencephalopathies
Genetic leukoencephalopathies are inherited disorders characterized by progressive white matter involvement. Although most are paediatric conditions,...
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Association between physical activity, sedentary time, and physical fitness of female college students in China
BackgroundPrior research has highlighted the importance of Physical Activity (PA), Sedentary Time (ST), and Physical Fitness (PF) for health....
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Treatment of Anemia in Lower-Risk Myelodysplastic Syndrome
A majority of patients with lower-risk myelodysplastic syndrome (MDS) will present with or develop anemia. Anemia in MDS is associated with decreased...
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Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
ObjectiveAdult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is caused by mutations in CSF1R . Pathogenic mutations in...
