title: Common Genetic Conditions of Ischemic Stroke to Keep in Mind.
abstract: Stroke is a complex disease resulting from the interplay of genetics and environment. In some instances (mainly in young adults) stroke is the direct result of a monogenic disease. Among the monogenic causes of stroke, the diseases which are most frequently encountered in the adult general neurological practice are CADASIL, Fabry and mitochondrial diseases. Brain MRI and clinical features may frequently lead to a correct molecular diagnosis. Here we review the single-gene causes of ischemic stroke, with special regard to the associated features which may help in the diagnostic approach.
authors.affiliation: Department of Experimental and Clinical Medicine, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Mancuso
authors.forename: D
authors.initials: D
authors.lastname: Orsucci
authors.forename: E Caldarazzo
authors.initials: EC
authors.lastname: Ienco
authors.forename: M
authors.initials: M
authors.lastname: Brondi
authors.forename: C
authors.initials: C
authors.lastname: Simoncini
authors.forename: A
authors.initials: A
authors.lastname: Chiti
authors.forename: V
authors.initials: V
authors.lastname: Montano
authors.forename: E
authors.initials: E
authors.lastname: Terni
authors.forename: N
authors.initials: N
authors.lastname: Giannini
authors.forename: G
authors.initials: G
authors.lastname: Siciliano
authors.forename: U
authors.initials: U
authors.lastname: Bonuccelli
keywords: CADASIL; Fabry disease; MELAS; ischemia; stroke