Evidence map›Paper›PMID 41271780›Full record

ArticleNPJ genomic medicine2025

Characterization of the genetic and clinical landscapes of DCTN1 gene in neurodegenerative diseases: a series of large case-control study.

Xiaorong Hou, Xuxiong Tang, Yuwen Zhao, Ziqin Liu, Jiajian Zhang, Ziwei Gong, Zhineng Kang, Ziwen Li, Han Chen, Junling Wang and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ genomic medicine, 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. Species-dependent activities of the PINK1-parkin axis.Translational neurodegeneration · 2026
    Review
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

13 authors.

Xiaorong Hou *Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Xuxiong Tang *Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Yuwen ZhaoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Ziqin LiuDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Jiajian ZhangDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Ziwei GongDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Zhineng KangDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Ziwen LiDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Han ChenDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Junling WangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Beisha TangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Xiaoxia ZhouDepartment of Nuclear Medicine, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China. zhouxiaoxia6988@163.com.
Lifang LeiDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China. Lei_lifang@qq.com.

Funding

the Hunan Innovative Province Construction Project 2023SK2037the Natural Science Foundation of Hunan Province 2022JJ30879the Natural Science Foundation of Hunan Province 2024JJ5509the Program of the National Natural Science Foundation of China 81971086
6 · The paper itself

Abstract

Impairment of axonal transport has been emphasized as a common feature in a series of neurodegenerative diseases (NDs). Variations in DCTN1 have been reported in NDs such as Parkinson's disease (PD), Perry syndrome (PS) and Amyotrophic lateral sclerosis (ALS). The overall objective of this study was to investigate the contribution of DCTN1 variants in different NDs and to explore the correlation between DCTN1 variants and disease phenotypes. We identified a previously published mutation p.G71E in three unrelated PS families. In the PD cohort, 30 putative deleterious variants (PDVs) were identified in DCTN1. Gene-based burden analysis showed a nominal association between DCTN1 rare PDVs and PD (uncorrected p = 0.042); however, this association did not remain statistically significant after multiple testing correction (FDR-corrected p = 0.084). In the ALS cohort, 10 PDVs were all rare damaging missense variants, and the PDVs were not enriched in ALS patients. Our findings first provide the independent evidence that PDVs in DCTN1 may be a risk factor for PD, but do not support the genetic involvement of DCTN1 in ALS of Asian ancestry.

Identifiers

PMID41271780
PMCPMC12638979

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