Evidence map›Paper›PMID 40138021›Full record

ArticleJournal of neurology2025

Analysis of C9orf72 repeat length in progressive supranuclear palsy, corticobasal syndrome, corticobasal degeneration, and atypical parkinsonism.

David P Vaughan, Raquel Real, Marte Theilmann Jensen, Riona G Fumi, Megan Hodgson, Edwin Jabbari, Danielle Lux, Lesley Wu, PROSPECT consortium, MD-GAP and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neurology, 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. Prognostic factors of survival in corticobasal syndrome and corticobasal degeneration: A scoping review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Article
  2. Comorbid pathologies and their impact on progressive supranuclear palsy: current view.Journal of neural transmission (Vienna, Austria : 1996) · 2026
    Review
  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

16 authors.

David P VaughanDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
Raquel RealDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
Marte Theilmann JensenDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
Riona G FumiDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
Megan HodgsonDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
Edwin JabbariDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
Danielle LuxDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
Lesley WuDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
PROSPECT consortium
MD-GAP
Thomas T WarnerDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
Zane JaunmuktaneMovement Disorders Centre, UCL Queen Square Institute of Neurology, London, UK.
Tamas ReveszQueen Square Brain Bank, Reta Lila Weston Institute of Neurological Studies, UCL Queen Square Institute of Neurology, London, UK.
James B RoweDepartment of Clinical Neurosciences, Cambridge University Hospitals NHS Trust, and MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, UK.
Jonathan RohrerDementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.
Huw R MorrisDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK. h.morris@ucl.ac.uk.ORCID http://orcid.org/0000-0002-5473-3774

Funding

Cambridge Centre for Parkinson-Plus MC_UU_00030/14Medical Research Council T033371/1NIHR Cambridge Biomedical Research Centre NIHR203312Progressive Supranuclear Palsy Association PROSPECT2Wellcome TrustWellcome Trust 220258
6 · The paper itself

Abstract

backgroundPathogenic hexanucleotide repeat expansions in C9orf72 are the commonest genetic cause of frontotemporal dementia and/or amyotrophic lateral sclerosis. There is growing interest in intermediate repeat expansions in C9orf72 and their relationship to a wide range of neurological presentations, including Alzheimer's disease, Parkinson's disease, progressive supranuclear palsy, corticobasal degeneration, and corticobasal syndromes.

aimsTo assess the prevalence of intermediate C9orf72 repeat expansions in a large cohort of prospectively-recruited patients clinically diagnosed with progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), and atypical parkinsonism (APS), compared with healthy controls. We also sought to replicate the association between C9orf72 repeat length and CBD in neuropathologically confirmed cases.

methods626 cases, including PSP (n = 366), CBS (n = 130), and APS (n = 53) from the PROSPECT study, and 77 cases with pathologically confirmed CBD were screened for intermediate repeat expansions in C9orf72 using repeat-primed PCR. These were compared to controls from the PROSPECT-M-UK study and from the 1958 Birth Cohort.

resultsThere was no difference in the mean or largest allele size in any affected patient group compared with controls. A higher proportion of our affected cohort had large C9orf72 repeat expansions compared to controls, but there was no difference when comparing the frequency of intermediate expansions between affected patients and controls. There was no relationship between repeat length and age at onset, level of disability, or survival.

conclusionsIntermediate expansions in C9orf72 do not appear to be a genetic risk factor for PSP, CBS, CBD, or atypical parkinsonism. They are not associated with age at onset, disability, or survival in our study.

Indexed as

Corticobasal DegenerationDNA Repeat ExpansionParkinsonian DisordersSupranuclear Palsy, ProgressiveAgedAged, 80 and overC9orf72 ProteinCohort StudiesFemaleHumansMaleMiddle AgedC9orf72 ProteinC9orf72 protein, humanC9orf72Corticobasal degenerationGeneticsParkinsonismProgressive supranuclear palsy

Identifiers

PMID40138021
PMCPMC11947049

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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.