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Heritable and non-heritable uncommon causes of stroke

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A Correction to this article was published on 18 June 2020

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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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Authors and Affiliations

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

    A. Bersano & L. Caputi

  2. Department of Neurology Alfried, Krupp-Hospital, Essen, Germany

    M. Kraemer

  3. Department of Neurology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany

    M. Kraemer

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

    A. Burlina

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

    M. Mancuso

  6. Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria

    J. Finsterer

  7. Department of Neurology, Avezzano Hospital, University of L’Aquila, L’Aquila, Italy

    S. Sacco

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

    C. Salvarani

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

    H. Chabriat

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

    S. Lesnik Oberstein

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

    A. Federico

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

    E. Tournier Lasserve

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

    D. Hunt

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

    M. Dichgans

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

    M. Arnold

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

    S. Debette

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

    H. S. Markus

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  1. A. Bersano
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  2. M. Kraemer
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Correspondence to A. Bersano.

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Bersano, A., Kraemer, M., Burlina, A. et al. Heritable and non-heritable uncommon causes of stroke. J Neurol 268, 2780–2807 (2021). https://doi.org/10.1007/s00415-020-09836-x

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  • DOI: https://doi.org/10.1007/s00415-020-09836-x

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