Evidence map›Paper›PMID 41729339›Full record

ArticleNeurogenetics2026

EIF2AK2-related hypomyelinating leukoencephalopathy presenting with congenital bilateral vocal cord paralysis and a spinal cord lesion.

Yasuhiro Kawai, Azusa Ikeda, Koki Nagai, Naruto Takuya, Noriko Aida, Tomohide Goto, Yukiko Kuroda, Kenji Kurosawa

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In one paragraph

Article in Neurogenetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Yasuhiro KawaiDivision of Medical Genetics, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, 232-8555, Japan.
Azusa IkedaDivision of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
Koki NagaiDivision of Medical Genetics, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, 232-8555, Japan.
Naruto TakuyaClinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
Noriko AidaDivision of Radiology, Kanagawa Children's Medical Center, Yokohama, Japan.
Tomohide GotoDivision of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
Yukiko KurodaDivision of Medical Genetics, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, 232-8555, Japan. ykodama-hok@umin.ac.jp.
Kenji KurosawaDivision of Medical Genetics, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, 232-8555, Japan.

Funding

Japan Agency for Medical Research and Development JP24ek0109760Ministry of Health, Labour and Welfare 23FC1052 and 24FC1008
6 · The paper itself

Abstract

Heterozygous EIF2AK2 variants reportedly cause leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome. We present, to our knowledge, the first reported patient with EIF2AK2-related hypomyelinating leukoencephalopathy involving congenital bilateral vocal cord paralysis. She had respiratory distress soon after birth and underwent tracheostomy. Neonatal brain magnetic resonance imaging showed normal myelination, but severe delayed myelination, accompanied by the rare finding of dorsal medulla and cervical spinal cord signal changes, was apparent at 8 months after transient neurologic regression triggered by infection. Exome sequencing identified a recurrent heterozygous variant in EIF2AK2 (NM_002759.3:c.326 C > T p.(Ala109Val)). Bilateral vocal cord paralysis might be a clinical feature of EIF2AK2-related disorders.

Indexed as

eIF-2 KinaseLeukoencephalopathiesSpinal CordVocal Cord ParalysisFemaleHumansInfant, NewbornMagnetic Resonance ImagingMutationeIF-2 KinaseCervical cord signal changesCongenital bilateral vocal cord paralysisEIF2AK2Episodic neurologic regressionHypomyelinating leukodystrophy

Identifiers

PMID41729339

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.