Evidence map›Paper›PMID 39666071›Full record

ArticleJournal of neurology2024

Diagnosing primary lateral sclerosis: a clinico-pathological study.

Eva M J de Boer, Bálint S de Vries, Wim Van Hecke, Angelika Mühlebner, Koen L Vincken, Christian P Mol, Wouter van Rheenen, Henk-Jan Westeneng, Jan H Veldink, Günter U Höglinger and 13 more

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Journal of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

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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

23 authors.

Eva M J de BoerDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.ORCID http://orcid.org/0000-0002-2629-2748
Bálint S de VriesDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.ORCID http://orcid.org/0000-0001-9102-7353
Wim Van HeckeDepartment of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands.
Angelika MühlebnerDepartment of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands.
Koen L VinckenImage Sciences Institute, University Medical Center Utrecht, Utrecht, The Netherlands.
Christian P MolImage Sciences Institute, University Medical Center Utrecht, Utrecht, The Netherlands.
Wouter van RheenenDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Henk-Jan WestenengDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Jan H VeldinkDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.ORCID http://orcid.org/0000-0001-5572-9657
Günter U HöglingerDepartment of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität (LMU) München, Munich, Germany.ORCID http://orcid.org/0000-0001-7587-6187
Huw R MorrisDepartment of Clinical and Movement Neurosciences, University College London, London, UK.ORCID http://orcid.org/0000-0002-5473-3774
Irene LitvanDepartment of Neurosciences, UC San Diego, La Jolla, CA, USA.ORCID http://orcid.org/0000-0002-3485-3445
Joost RaaphorstDepartment of Neurology and Neurophysiology, Amsterdam Neuroscience, Amsterdam UMC, Location AMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
Nicola TicozziDepartment of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.
Philippe CorciaService de Neurologie, CHRU Bretonneau, Tours, France.ORCID http://orcid.org/0000-0002-1625-8845
Wim VandenbergheDepartment of Neurology, University Hospitals Leuven, Louvain, Belgium.ORCID http://orcid.org/0000-0002-9758-5062
Yolande A L PijnenburgDepartment of Neurology, Alzheimer Center Amsterdam, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
Harro SeelaarDepartment of Neurology, Erasmus University Medical Centre, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0003-1989-7527
Caroline IngreDepartment of Clinical Neuroscience, Karolinska Institute, Stockholm, Sweden.ORCID http://orcid.org/0000-0001-5327-7204
Philip Van DammeDepartment of Neurology, University Hospitals Leuven, Louvain, Belgium.ORCID http://orcid.org/0000-0002-4010-2357
Leonard H van den BergDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.ORCID http://orcid.org/0000-0002-5203-9674
Bart P C van de WarrenburgDepartment of Neurology, Donders Institute for Brain, Cognition and Behaviour, Center of Expertise for Parkinson and Movement Disorders, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID http://orcid.org/0000-0003-4412-1616
Michael A van EsDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands. m.a.vanes@umcutrecht.nl.ORCID http://orcid.org/0000-0002-7709-5883

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPrimary lateral sclerosis (PLS) is a rare motor neuron disease characterized by upper motor neuron degeneration, diagnosed clinically due to the absence of a (neuropathological) gold standard. Post-mortem studies, particularly TDP-43 pathology analysis, are limited.

methodsThis study reports on 5 cases in which the diagnostic criteria for PLS were met, but in which neuropathology findings showed (partially) conflicting results. These discrepancies prompted us to perform a clinico-pathology study focussing on diagnostic challenges and accuracy in PLS. To this end, all cases were reviewed by an international panel of 11 experts using an e-module and structured questionnaires.

resultsAutopsy exhibited neuropathological findings consistent with amyotrophic lateral sclerosis (ALS) in one case, while two cases exhibited similar, but more limited lower motor neuron involvement, hinting at PLS or ALS overlap. Another case displayed tau-pathology indicative of progressive supranuclear palsy. The final case displayed extensive myelin loss without a proteinopathy or a clear diagnosis. The expert panel identified 24 different ancillary investigations lacking across cases (e.g. genetic testing, DAT scans, neuropsychological evaluation), listed 28 differential diagnoses, and identified 13 different conditions as the most likely diagnosis. Autopsy results led panel members to change their final diagnosis in 42% of the cases.

conclusionsThis study underscores the diagnostic challenges posed by diverse underlying pathologies resulting in upper motor neuron phenotypes. Despite adhering to the same diagnostic criteria, consensus amongst experts was limited. Ensuring the diagnostic consistency is crucial for advancing understanding and treatment of PLS. Explicit guidelines for excluding potential mimics along with a neuropathological gold standard are imperative.

Indexed as

Motor Neuron DiseaseAmyotrophic Lateral SclerosisAutopsyBrainDiagnosis, DifferentialDNA-Binding ProteinsHumansDNA-Binding ProteinsTARDBP protein, humanAmyotrophic lateral sclerosisNeuropathologyPrimary lateral sclerosisTauTDP-43

Identifiers

PMID39666071

What OpenQuestion holds

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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.