Evidence map›Paper›PMID 38148580›Full record

ArticleAnnals of clinical and translational neurology2024

Dystonia, spastic tetraplegia, and ataxia due to a novel mutation in the dynamin domain of OPA1.

YuZhi Shi, Kang Zhang, GeHong Dong, Hua Pan, Bin Chen, An Wang, SongTao Niu, XinGao Wang, ZaiQiang Zhang

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of clinical and translational neurology, 2024. 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. 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

9 authors.

YuZhi ShiDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.ORCID 0000-0002-4018-6984
Kang ZhangDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
GeHong DongDepartment of Pathology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Hua PanDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Bin ChenDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.ORCID 0000-0001-8370-9346
An WangDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
SongTao NiuDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
XinGao WangDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
ZaiQiang ZhangDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.ORCID 0000-0002-0053-3451

Funding

National Natural Science Foundation of China 82271903
6 · The paper itself

Abstract

Movement disorders manifest in various hereditary neurodegenerative diseases. We reported a young man who presented with progressive upper limb dystonia, spastic tetraplegia, and ataxia. Whole-exome sequencing (WES) revealed a novel variant, c.2357A > G, in the dynamin domain of OPA1. No mtDNA deletion was detected in muscle by long-range PCR. Atrophy and decreased glucose metabolism of the basal ganglia were discovered. Decreased mtDNA copy number, fragmented mitochondria, slightly impaired oxidative phosphorylation, and increased autophagy were detected in mutant fibroblasts. Evident oxidative phosphorylation impairment and mtDNA deletions were not involved in the pathogenicity of this mutation unlike mutations in the GTPase domain of OPA1.

Indexed as

DystoniaAtaxiaDNA, MitochondrialDynaminsGTP PhosphohydrolasesHumansMaleMutationQuadriplegiaDNA, MitochondrialDynaminsGTP PhosphohydrolasesOPA1 protein, human

Identifiers

PMID38148580
PMCPMC10963289

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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.