Evidence map›Paper›PMID 32318851›Full record

ReviewJournal of neurology2021

Heritable and non-heritable uncommon causes of stroke.

A Bersano, M Kraemer, A Burlina, M Mancuso, J Finsterer, S Sacco, C Salvarani, L Caputi, H Chabriat, S Lesnik Oberstein and 7 more

Erratum issuedOpen access · greenAbstract readReview
PubMed Publisher
In one paragraph

Review in Journal of neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 34 papers.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed
3.1field-weighted citation impact, top 6% of its field
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

34 citing papers in PubMed, 64 citations in OpenAlex.

  1. Trial
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  7. Cathepsins in Neurological Diseases.International journal of molecular sciences · 2025
    Review
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  9. Review
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  11. Review
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  15. Article
  16. Review
  17. Virtual hospital and artificial intelligence: a first step towards the application of an innovative health system for the care of rare cerebrovascular diseases.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024
    Article
  18. Review
  19. Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors at 15 institutions in 7 countries.

A BersanoCerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. anna.bersano@gmail.com.
M KraemerDepartment of Neurology Alfried, Krupp-Hospital, Essen, Germany.
A BurlinaNeurological Unit, St. Bassano Hospital, Bassano del Grappa, Italy.
M MancusoDepartment of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.
J FinstererKrankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria.
S SaccoDepartment of Neurology, Avezzano Hospital, University of L'Aquila, L'Aquila, Italy.
C SalvaraniUniversity of Modena and Reggio Emilia, and Azienda USL-IRCCS, Reggio Emilia, Italy.
L CaputiCerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
H ChabriatDepartment of Neurology and CERVCO, DHU Neurovasc, INSERM U1141, University of Paris, Paris, France.
S Lesnik ObersteinDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
A FedericoDepartment of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
E Tournier LasserveDepartment of Genetics, Lariboisière Hospital and INSERM U1141, Paris-Diderot University, Paris, France.
D HuntMRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK.
M DichgansInstitute for Stroke and Dementia Research, Klinikum Der Universität München, Munich, Germany.
M ArnoldInserm Centre Bordeaux Population Health (U1219), University of Bordeaux, Bordeaux, France.
S DebetteDepartment of Neurology, INSELSPITAL, University Hospital Bern, Bern, Switzerland.
H S MarkusStroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Fondazione IRCCS Istituto Neurologico Carlo Besta · ITFHU Neurovasc · FRHeinrich Heine University Düsseldorf · DEHôpital Lariboisière · FRIstituti di Ricovero e Cura a Carattere Scientifico · ITKrankenanstalt Rudolfstiftung der Stadt Wien · ATLeiden University Medical Center · NLMRC Institute of Genetics and Molecular Medicine · GBOspedale San Bassiano · ITUniversité de Bordeaux · FRUniversity Hospital of Bern · CHUniversity of Cambridge · GBUniversity of L'Aquila · ITUniversity of Pisa · ITUniversity of Siena · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Despite intensive investigations, about 30% of stroke cases remains of undetermined origin. After exclusion of common causes of stroke, there is a number of rare heritable and non-heritable conditions, which often remain misdiagnosed, that should be additionally considered in the diagnosis of cryptogenic stroke. The identification of these diseases requires a complex work up including detailed clinical evaluation for the detection of systemic symptoms and signs, an adequate neuroimaging assessment and a careful family history collection. The task becomes more complicated by phenotype heterogeneity since stroke could be the primary or unique manifestation of a syndrome or represent just a manifestation (sometimes minor) of a multisystem disorder. The aim of this review paper is to provide clinicians with an update on clinical and neuroradiological features and a set of practical suggestions for the diagnostic work up and management of these uncommon causes of stroke. The identification of these stroke causes is important to avoid inappropriate and expensive diagnostic tests, to establish appropriate management measures, including presymptomatic testing, genetic counseling, and, if available, therapy. Therefore, physicians should become familiar with these diseases to provide future risk assessment and family counseling.

Indexed as

StrokeCausalityGenetic TestingHumansCADASILCARASALCARASILCOL4A1 syndromeFabry diseaseMELASMonogenic diseasesMoyamoya angiopathyPrimary angiitis of the central nervous systemRare strokesRetinal vasculopathy with cerebral leukoencephalopathyReversible Cerebral Vasoconstriction SyndromeSneddon syndromeSusac syndromeTakotsubo syndrome

Identifiers

PMID32318851
OpenAlexW3016627911

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.