Heritable and non-heritable uncommon causes of stroke.

Bersano, A; Kraemer, M; Burlina, A; Mancuso, M; Finsterer, J; Sacco, S; Salvarani, C; Caputi, L; Chabriat, H; Oberstein, S Lesnik; Federico, A; Lasserve, E Tournier; Hunt, D; Dichgans, M; Arnold, M; Debette, S; Markus, H S (2020). Heritable and non-heritable uncommon causes of stroke. (In Press). Journal of neurology Springer-Medizin-Verlag 10.1007/s00415-020-09836-x

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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.

Item Type:

Journal Article (Review Article)


04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology

UniBE Contributor:

Arnold, Marcel


600 Technology > 610 Medicine & health








Chantal Kottler

Date Deposited:

05 Nov 2020 16:17

Last Modified:

05 Nov 2020 16:17

Publisher DOI:


PubMed ID:


Uncontrolled Keywords:

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





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