Evidence map›Paper›PMID 41158507›Full record

ArticleFrontiers in genetics2025

Ataxia, intentional tremor and hypotonia syndrome caused by a novel

Qisheng Hu, Feng Zhu, Wanfen Wang, Yihang Xu, Haiyan Ren, Yanni Zheng, Yiqing Jiang, Shaofa Ke

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

Article in Frontiers in genetics, 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.

Qisheng Hu *Department of Neurology, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Taizhou, China.
Feng Zhu *Department of Neurology, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Taizhou, China.
Wanfen Wang *Department of Neurology, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Taizhou, China.
Yihang XuDepartment of Radiation Oncology, University of Miami Miller School of Medicine, Miami, FL, United States.
Haiyan RenDepartment of Neurology, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Taizhou, China.
Yanni ZhengDepartment of Neurology, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Taizhou, China.
Yiqing JiangDepartment of Neurology, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Taizhou, China.
Shaofa KeDepartment of Neurology, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Taizhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Childhood-onset ataxia, intention tremor and hypotonia syndrome (ATITHS) is a rare neurological disorder that encompasses features of hereditary ataxia, hypotonia. To date, only one report has associated the pathogenic variant in the POU4F1 gene with ATITHS. We report the case of a 28-year-old male who presented with lifelong gait instability and hypokinesia. The brain magnetic resonance imaging of this patient revealed significant cerebellar atrophy. Genetic analysis identified a novel heterozygous nonsense variant in Pou structural domain class 4 transcription factor 1 (

Indexed as

ataxiacase reporthypokinesiahypotoniaPou4f1

Identifiers

PMID41158507
PMCPMC12558638

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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.