Evidence map›Paper›PMID 33948764›Full record

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

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

Qin Du, Minjin Wang, Hongyu Zhou

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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 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.4field-weighted citation impact, top 41% 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

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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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
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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

3 authors at 1 institution in 1 country.

Qin Du *Department of Neurology, West China Hospital, Sichuan University, Guo Xuexiang #37, Chengdu, 610041, China.
Minjin Wang *Department of Laboratory Medicine, West China Hospital, Sichuan University, Guo Xuexiang #37, Chengdu, 610041, China.
Hongyu ZhouDepartment of Neurology, West China Hospital, Sichuan University, Guo Xuexiang #37, Chengdu, 610041, China. zhouhy@scu.edu.cn.ORCID http://orcid.org/0000-0002-7637-1305
Sichuan University · CN

Funding

the Department of Science and Technology of Sichuan Province 2020YFS0219the National Key R&D Program of China 2017YFC0907704, 2017YFC0907705
6 · The paper itself

Abstract

backgroundHereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal-dominant disorder with high penetrance characterized by progressive cognitive and motor dysfunction. The objective of the study was to describe a new variant of the colony stimulating factor-1 receptor (CSF1R) gene causing HDLS in a Chinese family.

methodsPhysical examinations, laboratory tests, structural neuroimaging studies, and whole-exome sequence analysis were carried out.

resultsThree patients in this family exhibited typical manifestations of HDLS, including progressive cognitive impairment, language and motor dysfunctions, and urinary and bowel incontinence. Genetic analysis identified a heterozygous missense mutation (c.2264T>C, p.L755P) in exon 17 of the CSF1R gene that cosegregated with the HDLS phenotype in an autosomal-dominant pattern. Brain MRI of the proband and her father showed diffuse white matter changes. The proband's 10-year-old son, a gene carrier, remains clinically asymptomatic at present.

conclusionsOur findings identify a novel missense mutation, p.L755P, in the CSF1R gene within a Chinese family with autosomal-dominant HDLS and broaden the genetic spectrum of CSF1R-associated HDLS.

Indexed as

LeukoencephalopathiesAdultChildFemaleHeterozygoteHumansMagnetic Resonance ImagingMaleMiddle AgedMutationPedigreeReceptor, Macrophage Colony-Stimulating FactorReceptors, Granulocyte-Macrophage Colony-Stimulating FactorCSF1R protein, humanReceptor, Macrophage Colony-Stimulating FactorReceptors, Granulocyte-Macrophage Colony-Stimulating FactorCSF1RHereditary diffuse leukoencephalopathy with spheroids (HDLS)Novel mutation

Identifiers

PMID33948764
OpenAlexW3159395014

What OpenQuestion holds

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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.