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Single-cell elderly blood-CSF atlas implicates peripherally-influenced neuroinflammatory degeneration in normal pressure hydrocephalus

ABSTRACT: Single-cell elderly blood-CSF atlas implicates peripherally-influenced neuroinflammatory degeneration in normal pressure hydrocephalus

PROVIDER: PRJNA1237269 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR32735359.fastq.gz	Fastqsanger.gz
	SRR32735360.fastq.gz	Fastqsanger.gz
	SRR32735361.fastq.gz	Fastqsanger.gz
	SRR32735362.fastq.gz	Fastqsanger.gz
	SRR32735363.fastq.gz	Fastqsanger.gz

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Single-cell elderly blood-CSF atlas implicates peripherally-influenced neuroinflammatory degeneration in normal pressure hydrocephalus

Project description:Idiopathic normal pressure hydrocephalus (iNPH) is a common, yet enigmatic form of dementia characterized by cerebral ventriculomegaly. In contrast to other types of hydrocephalus, iNPH exhibits normal or even reduced intracranial pressures and infrequent reductions in ventricular size after CSF shunting. Here, we generated the first single-cell RNA sequencing atlas of the peripheral blood and ventricular CSF in elderly iNPH patients totaling 140,207 transcriptomes. Integrated analyses identified a pro-inflammatory signature in peripheral blood and CSF monocytes that was significantly enriched in iNPH subgroups with lower cognitive function. We also identified novel CSF cell populations likely representing the periventricular sloughing of degenerating neuroglial cells. Our findings suggest that immune dysregulation detectable in peripheral blood monocytes contributes to CSF space inflammation, neurodegeneration, and associated cognitive deficits in iNPH. These data shift the paradigm of iNPH from a primary disorder of impaired “brain plumbing” and highlight the potential for non-invasive, immune-based diagnostic and treatment strategies.

2025-04-23 | GSE292141 | GEO

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Project description:Transcriptional profiling of the parietal cortex was performed in postnatal day 22 rats with obstructive hydrocephalus. An intracisternal injection of kaolin was done on postnatal day one, and severe hydrocephalus developed over 3 weeks. Hydrocephalic animals were compared to age-matched saline controls. The goal was to determine the effects of kaolin-induced neonatal hydrocephalus on gene expression. Two-condition experiment: kaolin-induced vs. saline-injected controls. Replicates: 5 treatment samples and 5 saline controls.

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Normal Pressure Hydrocephalus

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Normal Pressure Hydrocephalus

Project description:Normal Pressure Hydrocephalus

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Neonatal Hydrocephalus: Saline Control vs. Kaolin-Induced

2010-07-01 | GSE16985 | GEO

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Project description:We studies on how a hydrocephalus-causing mutation (R783H) on Trim71 alters Trim71's substrate mRNA binding

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Project description:We studies on how a hydrocephalus-causing mutation (R783H) on mouse Trim71 alters transcriptomes in mouse embryonic stem cells

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A Novel Silent Mutation in the L1CAM Gene causing Fetal Hydrocephalus

Project description:To explore the genetic cause of a Chinese woman with fetal hydrocephalus X-linked hydrocephalus (XLH), a genetic disorder, has an incidence of 1/30,000 male births. The great proportion of XLH is ascribed to loss of function mutations of L1 cell adhesion molecule gene (L1CAM), but silent mutations in L1CAM with pathogenic potential were rare, and were usually ignored especially in WES detection. In the present study, we describe a novel silent L1CAM mutation in a Chinese pregnant woman reporting continuous five times pregnancies with fetal hydrocephalus. After fetal blood sampling, we found c.453G>T (p.Gly151=) in L1CAM gene of the fetus by whole exome sequencing (WES), RT-PCR of the mRNA from cord blood mononuclear cells and subsequent sequence analysis identified the mutation created a potential 5' splice site consensus sequence, which would result in an in-frame deletion of 72 bp from exon 5 and 24 amino acids of the L1CAM protein. Heterozygous mutations were confirmed in analyzing DNA and mRNA from peripheral blood mononuclear cells of the woman, and, a severe L1 syndrome was confirmed by fetal ultrasound scan and MRI. Our study first indicated c.453G>T (p.Gly151=) in L1CAM could be disease causing for hydrocephalus, which would aid in genetic counseling for the prenatal diagnosis of hydrocephalus. Meanwhile, it suggested some silent mutations detected in WES should not be ignored, splicing predictions of these mutations were necessary.

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2018-11-23 | PXD011535 | Pride

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