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

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 a...

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Published in:	European journal of neurology Vol. 27; no. 6; pp. 909 - 927
Main Authors:	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.
Format:	Journal Article
Language:	English
Published:	England John Wiley & Sons, Inc 01.06.2020
Subjects:	Acidosis Blood vessels CADASIL - diagnosis CADASIL - genetics CADASIL - therapy 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 Diseases - diagnosis Cerebral Small Vessel Diseases - genetics Cerebral Small Vessel Diseases - therapy cerebral small‐vessel disease Collagen (type IV) Consensus Diagnosis Disease Disease management Encephalopathy Fabry Fabry's disease Genetic screening High temperature High-Temperature Requirement A Serine Peptidase 1 Humans Lactic acidosis lactic acidosis and stroke‐like episodes (MELAS) Leukoencephalopathies Leukoencephalopathy Management MELAS syndrome Mitochondria mitochondrial encephalopathy monogenic cerebral small‐vessel disease Neurology pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL) retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL‐S) Serine Serine peptidase Stroke Temperature requirements type IV collagen (COL4)A1/2 cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) monogenic cerebral small-vessel disease retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL) Fabry lactic acidosis and stroke-like episodes (MELAS) type IV collagen (COL4)A1/2 mitochondrial encephalopathy cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) cerebral small-vessel disease pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL)
ISSN:	1351-5101, 1468-1331, 1468-1331
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Summary:	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.
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ISSN:	1351-5101 1468-1331 1468-1331
DOI:	10.1111/ene.14183