Back
Heritable and non-heritable uncommon causes of stroke.
Journal article

Heritable and non-heritable uncommon causes of stroke.

  • Bersano A Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. anna.bersano@gmail.com.
  • Kraemer M Department of Neurology Alfried, Krupp-Hospital, Essen, Germany.
  • Burlina A Neurological Unit, St. Bassano Hospital, Bassano del Grappa, Italy.
  • Mancuso M Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.
  • Finsterer J Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria.
  • Sacco S Department of Neurology, Avezzano Hospital, University of L'Aquila, L'Aquila, Italy.
  • Salvarani C University of Modena and Reggio Emilia, and Azienda USL-IRCCS, Reggio Emilia, Italy.
  • Caputi L Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Chabriat H Department of Neurology and CERVCO, DHU Neurovasc, INSERM U1141, University of Paris, Paris, France.
  • Oberstein SL Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Federico A Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
  • Lasserve ET Department of Genetics, Lariboisière Hospital and INSERM U1141, Paris-Diderot University, Paris, France.
  • Hunt D MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK.
  • Dichgans M Institute for Stroke and Dementia Research, Klinikum Der Universität München, Munich, Germany.
  • Arnold M Inserm Centre Bordeaux Population Health (U1219), University of Bordeaux, Bordeaux, France.
  • Debette S Department of Neurology, INSELSPITAL, University Hospital Bern, Bern, Switzerland.
  • Markus HS Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Show more…
  • 2020-04-23
Published in:
  • Journal of neurology. - 2020
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
English 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.
Language
  • English
Open access status
closed
Identifiers
Persistent URL
https://sonar.ch/global/documents/58302
Statistics
Document views: 76 File downloads: