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

Mancuso, M; Arnold, M.; Bersano, A; Burlina, A; Chabriat, H; Debette, S; Enzinger, C; Federico, A; Filla, A; Finsterer, J; Hunt, D; Lesnik Oberstein, S; Tournier-Lasserve, E; Markus, H S (2020). Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology. European journal of neurology, 27(6), pp. 909-927. Wiley 10.1111/ene.14183

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BACKGROUND AND PURPOSE

Guidelines 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.

METHODS

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

RESULTS

We 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.

CONCLUSIONS

The 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.

Item Type:

Journal Article (Review Article)

Division/Institute:

04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology

UniBE Contributor:

Arnold, Marcel

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1468-1331

Publisher:

Wiley

Language:

English

Submitter:

Chantal Kottler

Date Deposited:

14 Jul 2020 17:07

Last Modified:

11 Aug 2020 03:25

Publisher DOI:

10.1111/ene.14183

PubMed ID:

32196841

Uncontrolled Keywords:

Fabry cathepsin-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 disease lactic acidosis and stroke-like episodes (MELAS) mitochondrial encephalopathy monogenic cerebral small-vessel disease pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL) retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) type IV collagen (COL4)A1/2

BORIS DOI:

10.7892/boris.145189

URI:

https://boris.unibe.ch/id/eprint/145189

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