Heritable and non-heritable uncommon causes of stroke.

Causality Genetic Testing Humans Stroke / complications
CADASIL CARASAL CARASIL COL4A1 syndrome Fabry disease MELAS Monogenic diseases Moyamoya angiopathy Primary angiitis of the central nervous system Rare strokes Retinal vasculopathy with cerebral leukoencephalopathy Reversible Cerebral Vasoconstriction Syndrome Sneddon syndrome Susac syndrome Takotsubo syndrome

Journal

Journal of neurology
ISSN: 1432-1459
Titre abrégé: J Neurol
Pays: Germany
ID NLM: 0423161

Informations de publication

Date de publication:
Aug 2021
Historique:
received: 27 12 2019
accepted: 10 04 2020
revised: 09 04 2020
pubmed: 23 4 2020
medline: 22 7 2021
entrez: 23 4 2020
Statut: ppublish

Résumé

Despite intensive investigations, about 30% of stroke cases remains of undetermined origin. After exclusion of common causes of stroke, there is a number of rare heritable and non-heritable conditions, which often remain misdiagnosed, that should be additionally considered in the diagnosis of cryptogenic stroke. The identification of these diseases requires a complex work up including detailed clinical evaluation for the detection of systemic symptoms and signs, an adequate neuroimaging assessment and a careful family history collection. The task becomes more complicated by phenotype heterogeneity since stroke could be the primary or unique manifestation of a syndrome or represent just a manifestation (sometimes minor) of a multisystem disorder. The aim of this review paper is to provide clinicians with an update on clinical and neuroradiological features and a set of practical suggestions for the diagnostic work up and management of these uncommon causes of stroke. The identification of these stroke causes is important to avoid inappropriate and expensive diagnostic tests, to establish appropriate management measures, including presymptomatic testing, genetic counseling, and, if available, therapy. Therefore, physicians should become familiar with these diseases to provide future risk assessment and family counseling.

Identifiants

DOI: 10.1007/s00415-020-09836-x PMID: 32318851
pubmed: 32318851
doi: 10.1007/s00415-020-09836-x
pii: 10.1007/s00415-020-09836-x
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

2780-2807

Commentaires et corrections

Type : ErratumIn

Informations de copyright

© 2020. Springer-Verlag GmbH Germany, part of Springer Nature.

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Auteurs

A Bersano (A)

Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. anna.bersano@gmail.com.

M Kraemer (M)

Department of Neurology Alfried, Krupp-Hospital, Essen, Germany.
Department of Neurology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.

A Burlina (A)

Neurological Unit, St. Bassano Hospital, Bassano del Grappa, Italy.

M Mancuso (M)

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

J Finsterer (J)

Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria.

S Sacco (S)

Department of Neurology, Avezzano Hospital, University of L'Aquila, L'Aquila, Italy.

C Salvarani (C)

University of Modena and Reggio Emilia, and Azienda USL-IRCCS, Reggio Emilia, Italy.

L Caputi (L)

Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

H Chabriat (H)

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

S Lesnik Oberstein (SL)

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

A Federico (A)

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

E Tournier Lasserve (ET)

Department of Genetics, Lariboisière Hospital and INSERM U1141, Paris-Diderot University, Paris, France.

D Hunt (D)

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK.

M Dichgans (M)

Institute for Stroke and Dementia Research, Klinikum Der Universität München, Munich, Germany.

M Arnold (M)

Inserm Centre Bordeaux Population Health (U1219), University of Bordeaux, Bordeaux, France.

S Debette (S)

Department of Neurology, INSELSPITAL, University Hospital Bern, Bern, Switzerland.

H S Markus (HS)

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

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Classifications MeSH

questionsmedicales.fr › Environnement et santé publique › Santé publique › Facteurs épidémiologiques › Causalité › Heritable and non-heritable uncommon causes of stroke.
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de médecine préventive › Services de diagnostic › Dépistage génétique › Heritable and non-heritable uncommon causes of stroke.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Heritable and non-heritable uncommon causes of stroke.
questionsmedicales.fr › Maladies cardiovasculaires › Maladies vasculaires › Angiopathies intracrâniennes › Accident vasculaire cérébral › Heritable and non-heritable uncommon causes of stroke.