Evidence map›Paper›PMID 35389136›Full record

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

Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients.

Yuting Ren, Xueying Yu, Bin Chen, Hefei Tang, Songtao Niu, Xingao Wang, Hua Pan, Zaiqiang Zhang

Abstract readReview
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In one paragraph

Review 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 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
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

5 citing papers in PubMed.

  1. Review
  2. Adult-onset vanishing white matter disease due to a novel compound heterozygous EIF2B2 mutation: a case report and brief review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Article
  3. Article
  4. Article
  5. Observational
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

8 authors.

Yuting RenDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100050, China.
Xueying YuDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100050, China.
Bin ChenDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100050, China.
Hefei TangDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100050, China.
Songtao NiuDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100050, China.
Xingao WangDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100050, China.
Hua PanDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100050, China.
Zaiqiang ZhangDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100050, China. ttyy0142011@126.com.ORCID http://orcid.org/0000-0002-0053-3451

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundVanishing white matter (VWM) is one of the most prevalent leukoencephalopathies and is caused by recessive mutations in gene eIF2B1-5. The onset may vary from an antenatal disorder that is rapidly fatal to an adult-onset disorder with chronic progressive deterioration.

methodsBased on a comprehensive study of 14 juvenile/adult patients diagnosed in our department as well as a review of 71 previously reported cases of genetically confirmed juvenile/adult-onset VWM since 2001, we attempted to delineate the clinical symptoms, disease evolution, episodic aggravation, associated symptoms, MRI findings and genotypic characteristics of adult VWM.

resultsThe onset age of neuropsychiatric symptoms was 23.4 ± 10.6 years, and the mean follow-up time was 8.1 ± 4.8 years. Major clinical symptoms included headache, epilepsy, cognitive decline, cerebellar ataxia, and urinary disturbances. Episodic aggravation was found in 42.9% of the patients in our series. Molecular studies revealed fourteen novel missense mutations. Diffuse abnormal signals characterized by T1-weighted hypointensity and T2-weighted hyperintensity were observed in the supratentorial white matter.

conclusionsThe symmetrical leukoencephalopathy must be considered in patients of any age with premature ovarian failure or optic neuropathy. The VWM disease spectrum consists of characteristic imaging findings in combination with extremely wide variability in VWM patients.

Indexed as

LeukoencephalopathiesWhite MatterAdolescentAdultChildChinaEukaryotic Initiation Factor-2BFemaleHumansMagnetic Resonance ImagingMutationPregnancyYoung AdultEukaryotic Initiation Factor-2BeIF2BLeukoencephalopathyOvarian failureProvoking factorsVanishing white matterVWM

Identifiers

PMID35389136

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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.