Evidence map›Paper›PMID 42460154›Full record

ArticleFrontiers in genetics2026

Case Report: Novel homozygous pathogenic variant of the

Lina Zhu, Siqi Hu, Xinyang Jiang, Rujie Gu, Yongxia Wang, Shufang Zhang, Fujun Peng, Xiuwei Ma

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2026. 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.

Lina Zhu *Senior Department of Pediatrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China.
Siqi Hu *Senior Department of Pediatrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China.
Xinyang JiangSenior Department of Pediatrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China.
Rujie GuSenior Department of Pediatrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China.
Yongxia WangSenior Department of Pediatrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China.
Shufang ZhangSenior Department of Pediatrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China.
Fujun PengWeifang Key Laboratory of Collaborative Innovation of Intelligent Diagnosis and Treatment and Molecular Diseases, School of Basic Medical Sciences, Shandong Second Medical University, Weifang, China.
Xiuwei MaSenior Department of Pediatrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary spastic paraplegia (HSP) comprises a group of neurodegenerative disorders characterized by progressive spasticity of the lower limbs. Troyer syndrome (MIM #275900), an autosomal recessive form of complicated HSP, was initially described in the Old Order Amish population. The syndrome is associated with a spectrum of clinical manifestations, including spastic paraplegia, muscle atrophy, dysarthria, intellectual disability, and abnormal white matter on neuroimaging. The causative gene for Troyer syndrome has been identified as

Indexed as

hereditary spastic paraplegialipid dropletrare diseaseSPG20Troyer syndrome

Identifiers

PMID42460154
PMCPMC13372273

What Socratic holds

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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.