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21.04.2020 | Review

Heritable and non-heritable uncommon causes of stroke

verfasst von: 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

Erschienen in: Journal of Neurology | Ausgabe 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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Titel: Heritable and non-heritable uncommon causes of stroke
verfasst von: 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
Publikationsdatum: 21.04.2020
Verlag: Springer Berlin Heidelberg
Erschienen in: Journal of Neurology / Ausgabe 8/2021
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-020-09836-x

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