¹Dipartimento di Scienze Neurologiche, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, IRCCS,Via F.Sforza 35 Università degli Studi di Milano, Milano, Italy

Correspondence: Dr E Ballabio, Dipartimento di Scienze Neurologiche, Ospedale Maggiore Policlinico, Via F. Sforza, 35, 20122 Milano, Italy. E-mail: eleballabio@yahoo.it

Received 18 January 2007; Revised 24 April 2007; Accepted 10 May 2007; Published online 20 June 2007.

Abstract

The identification of stroke cases caused by monogenic disorders is important both for therapeutic decisions and genetic counselling, although they represent less than 1% of all stroke patients. The purpose of this review is to summarize genetic, pathological, and clinical features of single-gene disorders related to ischemic stroke. The following monogenic disorders are considered: cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, cerebral autosomal-recessive arteriosclerosis with subcortical infarcts and leukoencephalopathy, hereditary endotheliopathy with retinopathy, nephropathy, and stroke, Fabry disease, pseudoxanthoma elasticum, Neurofibromatosis type 1, familial MoyaMoya disease, Ehlers-Danlos syndrome type IV, Marfan syndrome. For each monogenic disorder, mode of inheritance, pathophysiological aspects, clinical phenotype, and diagnostic tools are carefully described. Furthermore, the classification of monogenetic disorders is presented according to stroke mechanisms, which include small vessel diseases, large artery diseases, and arterial dissections. This review could be useful to identify specific diagnostic pathways for patients with a suspicion of monogenic disease.