Evidence map›Paper›PMID 35971044›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2022

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia by a novel mutation of the CSF1R gene.

Cong Ding, Li Zhao, Yu Zhan, Jiahao Li, Rujia Zhong, Qingwei Song, Chunbo Dong

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 57% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 1 institution in 2 countries.

Cong DingDepartment of Neurology, the First Affiliated Hospital, Dalian Medical University, No. 222 Zhongshan Road, Dalian, 116011, China.ORCID http://orcid.org/0000-0003-1788-9742
Li ZhaoDepartment of Neurology, the First Affiliated Hospital, Dalian Medical University, No. 222 Zhongshan Road, Dalian, 116011, China.ORCID http://orcid.org/0000-0003-4940-9440
Yu ZhanDepartment of Neurology, the First Affiliated Hospital, Dalian Medical University, No. 222 Zhongshan Road, Dalian, 116011, China.ORCID http://orcid.org/0000-0002-1529-8976
Jiahao LiDepartment of Neurology, the First Affiliated Hospital, Dalian Medical University, No. 222 Zhongshan Road, Dalian, 116011, China.ORCID http://orcid.org/0000-0002-7885-7712
Rujia ZhongDepartment of Neurology, the First Affiliated Hospital, Dalian Medical University, No. 222 Zhongshan Road, Dalian, 116011, China.ORCID http://orcid.org/0000-0002-6131-2660
Qingwei SongDepartment of Radiology, the First Affiliated Hospital, Dalian Medical University, Dalian, 116011, China.ORCID http://orcid.org/0000-0002-7035-7211
Chunbo DongDepartment of Neurology, the First Affiliated Hospital, Dalian Medical University, No. 222 Zhongshan Road, Dalian, 116011, China. dcb101@sina.com.ORCID http://orcid.org/0000-0003-1045-6768
Dalian Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare autosomal dominant disorder caused by mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. As of 2022, more than 100 different CSF1R mutations were reported in patients with CSF1R-related leukoencephalopathy. In this case report, we describe ALSP in a previously healthy 46-year-old woman who presented with memory impairment, poor interpersonal behavior, and decreased verbal fluency. Brain magnetic resonance imaging (MRI) showed confluent white matter changes and atrophy of the corpus callosum. Whole-exome sequencing identified a novel splice-site mutation (C.1858 + 5G > A) in intron 13 of the CSF1R gene, resulting in an intron 12 retention and an exon 13 deletion of CSF1R mRNA.

Indexed as

LeukoencephalopathiesAge of OnsetBrainFemaleHumansMagnetic Resonance ImagingMiddle AgedMutationNeurogliaReceptor, Macrophage Colony-Stimulating FactorCSF1R protein, humanReceptor, Macrophage Colony-Stimulating FactorAdult-onset leukoencephalopathy with axonal spheroids and pigmented gliaColony-stimulating factor 1 receptorGene mutationLeukoencephalopathymRNA splicing

Identifiers

PMID35971044
OpenAlexW4291813068

What OpenQuestion holds

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Read underepoch 390

Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.