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

dc.rights.licenseopenen_US
dc.contributor.authorMANCUSO, M.
dc.contributor.authorARNOLD, M.
dc.contributor.authorBERSANO, A.
dc.contributor.authorBURLINA, A.
dc.contributor.authorCHABRIAT, H.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorDEBETTE, Stephanie
dc.contributor.authorENZINGER, C.
dc.contributor.authorFEDERICO, A.
dc.contributor.authorFILLA, A.
dc.contributor.authorFINSTERER, J.
dc.contributor.authorHUNT, D.
dc.contributor.authorLESNIK OBERSTEIN, S.
dc.contributor.authorTOURNIER-LASSERVE, E.
dc.contributor.authorMARKUS, H. S.
dc.date.accessioned2021-02-04T14:47:31Z
dc.date.available2021-02-04T14:47:31Z
dc.date.issued2020
dc.identifier.issn1468-1331 (Electronic) 1351-5101 (Linking)en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/26137
dc.description.abstractEnBackground 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.
dc.language.isoENen_US
dc.subjectVINTAGE
dc.title.enMonogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology
dc.title.alternativeEur J Neurolen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1111/ene.14183en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
bordeaux.journalEuropean Journal of Neurologyen_US
bordeaux.page909-927en_US
bordeaux.volume27en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.issue6en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.teamVINTAGEen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03131713
hal.version1
hal.date.transferred2021-02-04T14:47:36Z
hal.exporttrue
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