Heritable and non-heritable uncommon causes of stroke
Langue
EN
Article de revue
Ce document a été publié dans
Journal of Neurology. 2021-08, vol. 268, n° 8, p. 2780-2807
Résumé en anglais
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 ...Lire la suite >
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.< Réduire
Mots clés en anglais
Rare strokes
Monogenic diseases
CADASIL
CARASIL
Fabry disease
COL4A1 syndrome
Retinal vasculopathy with cerebral leukoencephalopathy
MELAS
CARASAL
Sneddon syndrome
Susac syndrome
Primary angiitis of the central nervous system
Moyamoya angiopathy
Takotsubo syndrome
Reversible Cerebral Vasoconstriction Syndrome
Unités de recherche