Evidence map›Paper›PMID 32196841›Full record

ArticleEuropean journal of neurology2020

Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology.

M Mancuso, M Arnold, A Bersano, A Burlina, H Chabriat, S Debette, C Enzinger, A Federico, A Filla, J Finsterer and 4 more

Registry-linked trialAbstract readConsensus Statement
PubMed Publisher
In one paragraph

Article in European journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06512376 (Hereditary Cerebral Small Vessel Diseases Registry-Trial Ready Cohort), which is not on this map. Cited by 99 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
99citing 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.

NCT06512376 active not recruitingnot on this mapstarted 2022, after this paper: background citation

Hereditary Cerebral Small Vessel Diseases Registry-Trial Ready Cohort (HCSVD-TRC)

Typeobservational_patient_registrySponsorBeijing Tiantan HospitalRan2022 to 2027Enrolled100ConditionsCerebral Small Vessel Diseases, Hereditary
3 · Its place in the literature

Who cites it

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

  1. Pooled it
  2. Pooled it
  3. Guideline
  4. Intravenous thrombolysis in CADASIL: report of two cases and a systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023
    Pooled it
  5. Pooled it
  6. Pooled it
  7. The enigma of vascular dementia: current state and emerging perspectives.Journal of neural transmission (Vienna, Austria : 1996) · 2026
    Review
  8. Review
  9. Article
  10. Article
  11. Review
  12. A NOTCH3 p.Gly1105Cys variant in CADASIL: clinical characterization and an updated overview of exon 20 variants.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Novel COL4A2 splice-site variant associated with cerebral small vessel disease and progressive leukoencephalopathy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Article

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

14 authors.

M MancusoDepartment of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.ORCID 0000-0003-2738-8562
M ArnoldDepartment of Neurology, INSELSPITAL, University Hospital Bern, Bern, Switzerland.
A BersanoCerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
A BurlinaNeurological Unit, St. Bassiano Hospital, Bassano del Grappa, Italy.
H ChabriatDepartment of Neurology and CERVCO, DHU Neurovasc, INSERM U1141, University of Paris, Paris, France.
S DebetteDepartment of Neurology, INSERM Centre Bordeaux Population Health (U1219), Bordeaux University Hospital, University of Bordeaux, Bordeaux, France.
C EnzingerDepartment of Neurology and Division of Neuroradiology, Vascular and Interventional Radiology, Department of Radiology, Medical University of Graz, Graz, Austria.
A FedericoDepartment of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
A FillaDepartment of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Napoli, Italy.
J FinstererKrankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria.
D HuntMRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
S Lesnik ObersteinDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
E Tournier-LasserveDepartment of Genetics, Lariboisière Hospital and INSERM U1141, Paris-Diderot University, Paris, France.
H S MarkusStroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

background and purposeGuidelines on monogenic cerebral small-vessel disease (cSVD) diagnosis and management are lacking. Endorsed by the Stroke and Neurogenetics Panels of the European Academy of Neurology, a group of experts has provided recommendations on selected monogenic cSVDs, i.e. cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), autosomal dominant High Temperature Requirement A Serine Peptidase 1 (HTRA1), cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL), pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL), Fabry disease, mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and type IV collagen (COL4)A1/2.

methodsWe followed the Delphi methodology to provide recommendations on several unanswered questions related to monogenic cSVD, including genetic testing, clinical and neuroradiological diagnosis, and management.

resultsWe have proposed 'red-flag' features suggestive of a monogenic disease. General principles applying to the management of all cSVDs and specific recommendations for the individual forms of monogenic cSVD were agreed by consensus.

conclusionsThe results provide a framework for clinicians involved in the diagnosis and management of monogenic cSVD. Further multicentre observational and treatment studies are still needed to increase the level of evidence supporting our recommendations.

Indexed as

Cerebral Small Vessel DiseasesCADASILHigh-Temperature Requirement A Serine Peptidase 1HumansLeukoencephalopathiesNeurologyHigh-Temperature Requirement A Serine Peptidase 1HTRA1 protein, humancathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)cerebral small-vessel diseaseFabrylactic acidosis and stroke-like episodes (MELAS)mitochondrial encephalopathymonogenic cerebral small-vessel diseasepontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL)retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S)type IV collagen (COL4)A1/2

Identifiers

PMID32196841

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Registered trials

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.