Genetics of cerebrovascular disorders.

Abstract:

:Physicians must be able to recognize stroke caused by a mendelian or mitochondrial disorder. Some genetic disorders such as sickle cell anemia and Fabry disease have proven disease-specific treatments, whereas others have no effective treatment, including cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Proper diagnosis of a genetic disorder has prognostic value and prevents patient exposure to unnecessary and potentially harmful therapeutic agents and diagnostic tests. This article reviews the clinical and genetic features of some mendellan and mitochondrial disorders associated with ischemic stroke, hemorrhagic stroke, and cerebrovascular malformations.

journal_name

Mayo Clin Proc

journal_title

Mayo Clinic proceedings

authors

Meschia JF,Brott TG,Brown RD Jr

doi

10.1016/S0025-6196(11)62969-8

keywords:

subject

Has Abstract

pub_date

2005-01-01 00:00:00

pages

122-32

issue

1

eissn

0025-6196

issn

1942-5546

pii

S0025-6196(11)62969-8

journal_volume

80

pub_type

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