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

Michelangelo Mancuso; M. Arnold; A. Bersano; A. Burlina; H. Chabriat; S. Debette; C. Enzinger; A. Federico; A. Filla; J. Finsterer; D. Hunt; S. Lesnik Oberstein; E. Tournier‐Lasserve; Hugh S Markus

doi:10.1111/ene.14183

journal article Mar 20, 2020

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

M. Arnold A. Bersano A. Burlina H. Chabriat S. Debette C. Enzinger A. Federico A. Filla J. Finsterer D. Hunt S. Lesnik Oberstein E. Tournier‐Lasserve Hugh S Markus

European Journal of Neurology Vol. 27 No. 6 pp. 909-927 · Wiley

View at Publisher Save 10.1111/ene.14183

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.

Topics

No keywords indexed for this article. Browse by subject →

References

46

[1]

Winter JCF "Five‐point Likert items: t test versus Mann‐Whitney‐Wilcoxon" Pract Assessment Res Eval (2010)

[2]

10.1038/383707a0

[3]

10.1212/wnl.0b013e31824d586c

[4]

10.1038/s41436-018-0088-3

[5]

10.1016/s1474-4422(09)70127-9

[6]

10.1186/s12916-017-0778-8

[7]

10.1016/s1474-4422(09)70127-9

[8]

10.1161/strokeaha.109.568402

[9]

10.1177/0271678x18757875

[10]

10.1016/s0140-6736(01)07142-2

[11]

10.1016/s1474-4422(08)70046-2

[12]

10.1371/journal.pone.0157613

[13]

10.1056/nejmoa0801560

[14]

10.1016/j.jstrokecerebrovasdis.2010.11.008

[15]

10.1161/strokeaha.114.004236

[16]

10.1212/wnl.0000000000000202

[17]

10.1212/wnl.0000000000001803

[18]

10.1093/brain/awv155

[19]

10.1212/wnl.0000000000002694

[20]

10.1056/nejmoa053727

[21]

10.1212/wnl.0000000000006567

[22]

10.1038/s41439-018-0005-y

[23]

10.1093/hmg/ddm024

[24]

10.1056/nejmoa071906

[25]

10.1097/wco.0b013e32834232c6

[26]

MRI Features of Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy (PADMAL)

Xiao‐Qi Ding, Christian Hagel, E. Bernd Ringelstein et al.

Journal of Neuroimaging 10.1111/j.1552-6569.2008.00336.x

[27]

Cathepsin A–related arteriopathy with strokes and leukoencephalopathy (CARASAL)

Marianna Bugiani, Sietske H. Kevelam, Hannah S. Bakels et al.

Neurology 10.1212/wnl.0000000000003251

[28]

10.1093/brain/awx045

[29]

10.1212/wnl.0b013e3182768954

[30]

10.1038/ng2082

[31]

10.1136/jnnp-2017-316142

[32]

10.1093/brain/aww217

[33]

10.12688/wellcomeopenres.12631.1

[34]

10.1007/978-3-319-76148-0_4

[35]

10.1016/j.ymgme.2018.02.014

[36]

10.1161/strokeaha.114.006283

[37]

10.1016/j.ymgme.2018.08.014

[38]

10.1016/s0140-6736(05)67635-0

[39]

10.1136/jmedgenet-2017-105080

[40]

10.1371/journal.pone.0136352

[41]

10.1371/journal.pone.0173358

[42]

10.1016/j.jocn.2019.03.064

[43]

10.1038/348651a0

[44]

10.1212/01.wnl.0000261929.92478.3e

[45]

10.12688/wellcomeopenres.15599.1

[46]

10.1007/978-3-319-76148-0_3

Cited By

168

What Caused an Acute Pontine Stroke in a Young Male Patient With a Patent Foramen Ovale?

Arpankumar Patel, Umabalan Thirupathy · 2025

Cureus

The pathogenesis of cerebral small vessel disease and vascular cognitive impairment

Hugh S. Markus, Anne Joutel · 2025

Physiological Reviews

Pathophysiology of cerebral small vessel disease: a journey through recent discoveries

Nicolas Dupré, Antoine Drieu · 2024

Journal of Clinical Investigation

Cerebral Small Vessel Disease, Hypertension, and Vascular Contributions to Cognitive Impairment and Dementia

Atticus H. Hainsworth, Hugh S. Markus · 2024

Hypertension

Intravenous thrombolysis in CADASIL: report of two cases and a systematic review

Francesca Pescini, Sara Torricelli · 2022

Neurological Sciences

2021 Taiwan Stroke Society Guidelines of blood pressure control for ischemic stroke prevention

Nai-Fang Chi, Chih-Ping Chung · 2022

Journal of the Chinese Medical Asso...

Genetics of common cerebral small vessel disease

Constance Bordes, Muralidharan Sargurupremraj · 2022

Nature Reviews Neurology

Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes

Remco J. Hack, Minne N. Cerfontaine · 2022

Stroke

Metrics

168

Citations

46

References

Details

Published: Mar 20, 2020
Vol/Issue: 27(6)
Pages: 909-927
License: View

Authors

M

Michelangelo Mancuso

Department of Clinical and Experimental Medicine Neurological Institute University of Pisa Pisa Italy

M

M. Arnold

Department of Neurology INSELSPITAL University Hospital Bern Bern Switzerland

A

A. Bersano

Cerebrovascular Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

A

A. Burlina

Neurological Unit St. Bassiano Hospital Bassano del Grappa Italy

H

H. Chabriat

Department of Neurology and CERVCO DHU Neurovasc INSERM U1141 University of Paris Paris France

S

S. Debette

Department of Neurology INSERM Centre Bordeaux Population Health (U1219) Bordeaux University Hospital University of Bordeaux Bordeaux France

C

C. Enzinger

Department of Neurology and Division of Neuroradiology, Vascular and Interventional Radiology Department of Radiology Medical University of Graz Graz Austria

A

A. Federico

Department of Medicine, Surgery and Neurosciences University of Siena Siena Italy

A

A. Filla

Department of Neurosciences and Reproductive and Odontostomatological Sciences Federico II University Napoli Italy

J

J. Finsterer

Krankenanstalt Rudolfstiftung Messerli Institute Vienna Austria

D

D. Hunt

MRC Human Genetics Unit Institute of Genetics and Molecular Medicine University of Edinburgh Edinburgh UK

S

S. Lesnik Oberstein

Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands

E

E. Tournier‐Lasserve

Department of Genetics Lariboisière Hospital and INSERM U1141 Paris‐Diderot University Paris France

H

Hugh S Markus

Stroke Research Group Department of Clinical Neurosciences University of Cambridge Cambridge UK

Cite This Article

Michelangelo Mancuso, M. Arnold, A. Bersano, et al. (2020). Monogenic cerebral small‐vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology. European Journal of Neurology, 27(6), 909-927. https://doi.org/10.1111/ene.14183

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

You May Also Like