Evidence map›Paper›PMID 39596606›Full record

ArticleGenes2024

A New Case of Mitochondrial RNA Helicase SUPV3L1-Associated Neurodegenerative Disease: Ataxia, Spasticity, Optic Atrophy, and Skin Hypopigmentation (ASOASH).

Polina Tsygankova, Denis Chistol, Tatiana Krylova, Igor Bychkov, Vyacheslav Tabakov, Tatiana Markova, Elena Dadali, Ekaterina Zakharova

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

Article in Genes, 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. Biallelic variants inResearch square · 2026
    Article
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.

Polina TsygankovaResearch Centre for Medical Genetics, Moscow 115552, Russia.
Denis ChistolResearch Centre for Medical Genetics, Moscow 115552, Russia.ORCID 0000-0001-6519-7375
Tatiana KrylovaResearch Centre for Medical Genetics, Moscow 115552, Russia.ORCID 0000-0002-7197-3497
Igor BychkovResearch Centre for Medical Genetics, Moscow 115552, Russia.ORCID 0000-0002-6594-6126
Vyacheslav TabakovResearch Centre for Medical Genetics, Moscow 115552, Russia.
Tatiana MarkovaResearch Centre for Medical Genetics, Moscow 115552, Russia.ORCID 0000-0002-2672-6294
Elena DadaliResearch Centre for Medical Genetics, Moscow 115552, Russia.
Ekaterina ZakharovaResearch Centre for Medical Genetics, Moscow 115552, Russia.

Funding

The Ministry of Science and Higher Education of the Russian Federation RF 193021X0029
6 · The paper itself

Abstract

backgroundThe

methodsWhole-genome sequencing was performed on the NovaSeq 6000 platform using pair-end reading. Data analysis was performed with an in-house developed pipeline.

resultsThe 17-year-old female patient exhibited a diverse array of symptoms, including ataxia, spastic paraparesis, cognitive deficit, optic atrophy, and horizontal gaze-evoked nystagmus. Early onset of symptoms, such as ataxic gait and nystagmus, was noted, with subsequent progression of neurological manifestations. At the time of the observation, the proband had extensive regions of hypopigmented skin patches on the body and extremities, which have progressed over time. Whole-genome sequencing revealed compound heterozygous variants in the

Indexed as

Neurodegenerative DiseasesOptic AtrophyRNA HelicasesAdolescentAtaxiaDEAD-box RNA HelicasesFemaleHumansHypopigmentationMitochondriaMuscle SpasticityRNA, MitochondrialDEAD-box RNA HelicasesRNA HelicasesRNA, MitochondrialSUPV3L1 protein, humanataxiahypopigmentationoptic atrophyRNA-analysisspasticitySUPV3L1whole genome sequencing

Identifiers

PMID39596606
PMCPMC11593967

What OpenQuestion holds

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LicenceCC BY
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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 OpenQuestion graph.