Single Gene Disorders Associated With Stroke: A Review and Update on Treatment Options

Cerebrovascular Disease and Stroke (M Alberts and C Helgason, Section Editors)

DOI: 10.1007/s11936-012-0179-4

Cite this article as:
Muqtadar, H. & Testai, F.D. Curr Treat Options Cardio Med (2012) 14: 288. doi:10.1007/s11936-012-0179-4

Opinion statement

Single gene stroke disorders are rare but important to consider in the differential diagnosis of cryptogenic stroke. The identification of these disorders has a significant prognostic value and may be instrumental in the development of an appropriate stroke prevention plan. In this review we summarize the clinical features, diagnosis, and treatment of the following single gene disorders: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL); Fabry disease; sickle cell disease; and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).


Single gene disorders Cryptogenic stroke CADASIL CARASIL Fabry Sickle cell disease MELAS 

Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  1. 1.Department of Neurology and RehabilitationUniversity of Illinois College of Medicine at ChicagoChicagoUSA

Personalised recommendations