Evidence map›Paper›PMID 41504202›Full record

ReviewRevista de neurologia2025

Amyotrophic Lateral Sclerosis With Concurrent LHON-associated m.14484T>C Mutation: A Case Report and Literature Review.

Jie-Ying Wu, Shan Ye, Tie-Lun Yin, Shuo Zhang, Dan-Feng Zheng, Jia-Yu Fu, Guang-Wei Ma, Dong-Sheng Fan

Abstract readCase ReportsReview
In one paragraph

Review in Revista de neurologia, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

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.

Jie-Ying WuDepartment of Neurology, Peking University Third Hospital, 100191 Beijing, China.
Shan YeDepartment of Neurology, Peking University Third Hospital, 100191 Beijing, China.
Tie-Lun YinDepartment of Neurology, Peking University Third Hospital, 100191 Beijing, China.
Shuo ZhangDepartment of Neurology, Peking University Third Hospital, 100191 Beijing, China.
Dan-Feng ZhengDepartment of Pathology, Peking University Health Science Center, 100191 Beijing, China.
Jia-Yu FuDepartment of Neurology, Peking University Third Hospital, 100191 Beijing, China.
Guang-Wei MaPeking University Sixth Hospital, 100083 Beijing, China.
Dong-Sheng FanDepartment of Neurology, Peking University Third Hospital, 100191 Beijing, China.

Funding

Clinical Cohort Construction Program of Peking University Third Hospital BYSYDL2019002National Natural Sciences Foundation of China 81873784National Natural Sciences Foundation of China 82071426
6 · The paper itself

Abstract

backgroundAmyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease that mostly presents as sporadic cases. Currently, no mitochondrial-related gene mutations have been identified as the cause of ALS. Mitochondrial gene mutations cause rare hereditary diseases, and the symptoms of pure muscle weakness and muscle atrophy are rarely observed. CASE REPORT: We report the case of a young patient clinically diagnosed with ALS concurrently associated with a pathogenic mutation in the mitochondrially encoded nicotinamide adenine dinucleotide: ubiquinone oxidoreductase core subunit 6 (

conclusionWe provide a case report and a literature review aimed at increasing the understanding of the connection between the two. It is essential to consider the potential modifying role of mitochondrial pathogenic genes in ALS.

Indexed as

Amyotrophic Lateral SclerosisMutationAdultFemaleHumansamyotrophic lateral sclerosisLeber’s hereditary optic neuropathym.14484T>Cmuscle weakness

Identifiers

PMID41504202
PMCPMC12781225

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.