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Journal of Neurology
Published in: Journal of Neurology 8/2021

01-08-2021 | Vasculitis | Review

Heritable and non-heritable uncommon causes of stroke

Authors: A. Bersano, M. Kraemer, A. Burlina, M. Mancuso, J. Finsterer, S. Sacco, C. Salvarani, L. Caputi, H. Chabriat, S. Lesnik Oberstein, A. Federico, E. Tournier Lasserve, D. Hunt, M. Dichgans, M. Arnold, S. Debette, H. S. Markus

Published in: Journal of Neurology | Issue 8/2021

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Abstract

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.
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Metadata
Title
Heritable and non-heritable uncommon causes of stroke
Authors
A. Bersano
M. Kraemer
A. Burlina
M. Mancuso
J. Finsterer
S. Sacco
C. Salvarani
L. Caputi
H. Chabriat
S. Lesnik Oberstein
A. Federico
E. Tournier Lasserve
D. Hunt
M. Dichgans
M. Arnold
S. Debette
H. S. Markus
Publication date
01-08-2021
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 8/2021
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-020-09836-x

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