Evidence map›Paper›PMID 40488180›Full record

ArticleBrain communications2025

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.

Wai Yan Yau, Roisin Sullivan, Emer O'Connor, David Pellerin, Michael H Parkinson, Paola Giunti, Marie-Josée Dicaire, Matt C Danzi, Stephan Züchner, Bernard Brais and 3 more

Abstract read
In one paragraph

Article in Brain communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Observational
  8. Article
  9. Article
  10. 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

13 authors.

Wai Yan YauDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.ORCID https://orcid.org/0000-0001-6284-9163
Roisin SullivanDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.
Emer O'ConnorDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.
David PellerinDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.
Michael H ParkinsonAtaxia Centre, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
Paola GiuntiAtaxia Centre, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.ORCID https://orcid.org/0000-0003-3508-4788
Marie-Josée DicaireDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada, H3A 2B4.
Matt C DanziDr John T Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Stephan ZüchnerDr John T Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.ORCID https://orcid.org/0000-0002-8498-5235
Bernard BraisDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada, H3A 2B4.ORCID https://orcid.org/0000-0003-1394-3561
Nicholas W WoodNational Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London WC1N 3BG, UK.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.ORCID https://orcid.org/0000-0002-2866-7777
Jana VandrovcovaDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.ORCID https://orcid.org/0000-0001-9508-0477

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Less than half of the individuals with hereditary cerebellar ataxia receives a genetic diagnosis. Repeat expansions account for disproportionate number of hereditary cerebellar ataxia and have genetically heterogeneous causes. These genetic loci include

Indexed as

ataxiamovement disordersneurogeneticswhole-genome sequencing

Identifiers

PMID40488180
PMCPMC12142459

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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.