Evidence map›Paper›PMID 39436520›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2025

A case of X-Linked adrenoleukodystrophy caused by a novel mutation with singular clinical manifestation: unilateral lower limb weakness.

Geke Zhu, Han Zhou, Yongbo Ma, Rui Liu, Xiangtao Nie, Wenjing Qi, Lei Hao, Xiuming Guo

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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, 2025. 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
–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

1 citing paper in PubMed.

  1. Lipid signature in X-ALD: a comparison between phenotypes.Frontiers in molecular biosciences · 2026
    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

8 authors.

Geke ZhuDepartment of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, China.
Han ZhouDepartment of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, China.
Yongbo MaDepartment of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, China.
Rui LiuDepartment of Radiology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, China.
Xiangtao NieDepartment of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, China.
Wenjing QiDepartment of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, China.
Lei HaoDepartment of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, China. haolei1102@163.com.
Xiuming GuoDepartment of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, China. xmguo813@163.com.ORCID http://orcid.org/0009-0000-1868-8833

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene, leading to the accumulation of very long-chain fatty acids (VLCFAs) in plasma and tissues. It primarily affects the central nervous system white matter and the adrenal cortex. Clinical manifestations include myeloneuropathy, leukodystrophy, and adrenal insufficiency. Reliable methods for diagnosis include VLCFAs and genetic testing. We report the case of a 31-year-old male X-ALD patient who mainly presented with unilateral lower limb weakness. Adrenal insufficiency was not observed, and there was no evidence of peripheral nerve involvement in nerve conduction studies. MRI revealed only mild atrophy of thoracic spinal cord without other relevant abnormalities. Ultimately, Next-Generation Sequencing (NGS) and VLCFAs testing confirmed the diagnosis of X-ALD, and the NGS indicated a novel missense mutation.

Indexed as

AdrenoleukodystrophyATP Binding Cassette Transporter, Subfamily D, Member 1Lower ExtremityMutation, MissenseAdultHumansMaleMuscle WeaknessMutationABCD1 protein, humanATP Binding Cassette Transporter, Subfamily D, Member 1ABCD1 geneMyeloneuropathyNovel mutationVery long-chain fatty acidsX-linked adrenoleukodystrophy

Identifiers

PMID39436520

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.