The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous

Hui-Jun Yang, Gyeongmin Park, Il Seong Nam-Goong, Jun-Woo Ahn, Young Cheol Weon

Open access · goldAbstract read

In one paragraph

Article in Neurology. Genetics, 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

0.3field-weighted citation impact, top 49% 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, 3 citations in OpenAlex.

Novel Pathogenic Variants inHuman mutation · 2024
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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

5 authors at 1 institution in 1 country.

Hui-Jun YangDepartment of Neurology (H.-J.Y.), Department of Radiology (G.P., Y.C.W.), Department of Internal Medicine (I.S.N.-G.), and Department of Obstetrics and Gynecology (J.-W.A.), Ulsan University Hospital, University of Ulsan College of Medicine, South Korea.ORCID https://orcid.org/0000-0002-3593-1134

Gyeongmin ParkDepartment of Neurology (H.-J.Y.), Department of Radiology (G.P., Y.C.W.), Department of Internal Medicine (I.S.N.-G.), and Department of Obstetrics and Gynecology (J.-W.A.), Ulsan University Hospital, University of Ulsan College of Medicine, South Korea.

Il Seong Nam-GoongDepartment of Neurology (H.-J.Y.), Department of Radiology (G.P., Y.C.W.), Department of Internal Medicine (I.S.N.-G.), and Department of Obstetrics and Gynecology (J.-W.A.), Ulsan University Hospital, University of Ulsan College of Medicine, South Korea.

Jun-Woo AhnDepartment of Neurology (H.-J.Y.), Department of Radiology (G.P., Y.C.W.), Department of Internal Medicine (I.S.N.-G.), and Department of Obstetrics and Gynecology (J.-W.A.), Ulsan University Hospital, University of Ulsan College of Medicine, South Korea.

Young Cheol WeonDepartment of Neurology (H.-J.Y.), Department of Radiology (G.P., Y.C.W.), Department of Internal Medicine (I.S.N.-G.), and Department of Obstetrics and Gynecology (J.-W.A.), Ulsan University Hospital, University of Ulsan College of Medicine, South Korea.

Ulsan University Hospital · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: 4H leukodystrophy is a rare autosomal recessive hypomyelinating disorder characterized by several combinations of motor dysfunction, abnormal dentition, and ophthalmic and endocrine abnormalities. To date, only a single Korean case report of pediatric leukodystrophy caused by the Methods: Genetic tests of Korean sibling pairs with primary amenorrhea due to normosmic isolated hypogonadotropic hypogonadism and cognitive or behavioral symptoms were performed by whole-exome sequencing (WES). The WES results were validated by direct Sanger sequencing. Results: We identified biallelic variations in the Discussion: The siblings reported are the first

Identifiers

PMID35434302

DOI10.1212/NXG.0000000000000667

PMCPMC9007423

OpenAlexW4224112051

What OpenQuestion holds

Textmetadata

LicenceCC BY-NC-ND

Read underepoch 390

Registered trials

None linked

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.