Evidence map›Paper›PMID 30284037›Full record

ReviewJournal of neurology2019

Spinocerebellar ataxia: an update.

Roisin Sullivan, Wai Yan Yau, Emer O'Connor, Henry Houlden

Abstract readReview
In one paragraph

Review in Journal of neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 203 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
203citing papers in PubMed, 6 pooled it
–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

203 citing papers in PubMed, 6 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Epidemiology of Spinocerebellar Ataxias in Europe.Cerebellum (London, England) · 2024
    Pooled it
  6. Pooled it
  7. Trial
  8. Trial
  9. Trial
  10. Article
  11. Article
  12. Article
  13. Review
  14. Review
  15. From Thanatos to transcription: the emerging biology of THAP proteins.Cellular and molecular life sciences : CMLS · 2026
    Review
  16. Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1.Movement disorders : official journal of the Movement Disorder Society · 2026
    Article
  17. Observational
  18. Article
  19. Article
  20. Review

143 more citing papers are in PubMed but not listed here.

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

4 authors.

Roisin SullivanDepartment of Neuromuscular Diseases, UCL Queen's Square Institute of Neurology, Queen's Square House, Queen's Square, London, WC1N 3BG, UK. r.sullivan@ucl.ac.uk.
Wai Yan YauDepartment of Neuromuscular Diseases, UCL Queen's Square Institute of Neurology, Queen's Square House, Queen's Square, London, WC1N 3BG, UK.
Emer O'ConnorDepartment of Neuromuscular Diseases, UCL Queen's Square Institute of Neurology, Queen's Square House, Queen's Square, London, WC1N 3BG, UK.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen's Square Institute of Neurology, Queen's Square House, Queen's Square, London, WC1N 3BG, UK.

Funding

Ataxia UK 516457Brain Research Trust 540051Medical Research Council 54313Medical Research Council MR/S01165X/1Rosetrees Trust 516457
6 · The paper itself

Abstract

Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic disorders with autosomal dominant inheritance. We aim to provide an update on the recent clinical and scientific progresses in SCA where numerous novel genes have been identified with next-generation sequencing techniques. The main disease mechanisms of these SCAs include toxic RNA gain-of-function, mitochondrial dysfunction, channelopathies, autophagy and transcription dysregulation. Recent studies have also demonstrated the importance of DNA repair pathways in modifying SCA with CAG expansions. In addition, we summarise the latest technological advances in detecting known and novel repeat expansion in SCA. Finally, we discuss the roles of antisense oligonucleotides and RNA-based therapy as potential treatments.

Indexed as

HumansSpinocerebellar AtaxiasMolecular diagnosisNext-generation sequencingSpinocerebellar ataxia

Identifiers

PMID30284037
PMCPMC6373366

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.