Genetics of cerebrovascular disorders

Research output: Contribution to journalArticlepeer-review

36 Scopus citations


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 das 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 mendelian and mitochondrial disorders associated with ischemic stroke, hemorrhagic stroke, and cerebrovascular malformations.

Original languageEnglish (US)
Pages (from-to)122-132
Number of pages11
JournalMayo Clinic proceedings
Issue number1
StatePublished - Jan 2005

ASJC Scopus subject areas

  • Medicine(all)


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