Evidence map›Paper›PMID 40507780›Full record

ArticleInternational journal of molecular sciences2025

Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats.

Joohyun Park, Claudia Dufke, Zofia Fleszar, Michael Schlotterbek, Elena Buena-Atienza, Lara G Stühn, Caspar Gross, Marc Sturm, Stephan Ossowski, Ludger Schöls and 2 more

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

Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Long-read sequencing for neurological disorders: opportunities, challenges, and future directions.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Review
  2. Article
  3. 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

12 authors.

Joohyun ParkInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.ORCID 0000-0001-7996-5283
Claudia DufkeInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.ORCID 0000-0001-5225-2443
Zofia FleszarDepartment of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
Michael SchlotterbekInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Elena Buena-AtienzaInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Lara G StühnInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.ORCID 0009-0009-0399-7217
Caspar GrossInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.ORCID 0000-0002-9009-5458
Marc SturmInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.ORCID 0000-0002-6552-8362
Stephan OssowskiInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.ORCID 0000-0002-7416-9568
Ludger SchölsDepartment of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
Olaf RiessInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.ORCID 0000-0002-7011-1369
Tobias B HaackInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.ORCID 0000-0001-6033-4836

Funding

Deutsche Forschungsgemeinschaft 418081722, 433158657, OS 647/1-1, 458746698Else Kröner-Fresenius-Stiftung PRECISE.netEuropean Commission Recon4IMD - GAP-101080997Universitätsklinikum Tübingen 3049-0-0
6 · The paper itself

Abstract

Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by ataxia, sensory loss and pyramidal signs. While the majority of FRDA cases are caused by biallelic GAA trinucleotide repeat expansions in intron 1 of FXN, there is a subset of patients harboring a heterozygous pathogenic small variant compound-heterozygous with a GAA repeat expansion. We report on the diagnostic journey of a 21-year-old patient who was clinically suspected of having FRDA at the age of 12 years. Genetic testing included fragment analysis, gene panel analysis and exome sequencing, which only detected one pathogenic heterozygous missense variant (c.389 G>T,p.Gly130Val) in

Indexed as

Friedreich AtaxiaIron-Binding ProteinsMosaicismTrinucleotide Repeat ExpansionFrataxinHeterozygoteHumansYoung AdultFrataxinIron-Binding ProteinsFRDAFriedreich’s ataxialong-read sequencingOxford Nanopore Technologiesrepeat expansion

Identifiers

PMID40507780
PMCPMC12154355

What OpenQuestion 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 OpenQuestion graph.