Genetics of stroke

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations


This review summarizes the clinical and genetic features of some of the mendelian and mitochondrial disorders associated with ischemic and hemorrhagic stroke and cerebrovascular malformations. For some conditions, such as sickle cell anemia and Fabry disease, specific diagnosis is important because there are proven disease-specific treatments. For other conditions that have as yet no proven disease-specific treatments, such as cerebral autosomal dominant arteriopathy and subcortical infarcts and leukoencephalopathy (CADASIL) and mitochondrial encephalopathy with lactic acidosis and strokelike symptoms (MELAS), a diagnosis has prognostic value and avoids exposing patients to unnecessary, potentially harmful therapeutic agents and diagnostic tests. The genetics of common stroke is also briefly reviewed.

Original languageEnglish (US)
Pages (from-to)114-132
Number of pages19
JournalCONTINUUM Lifelong Learning in Neurology
Issue number2
StatePublished - Apr 2008

ASJC Scopus subject areas

  • Clinical Neurology
  • Genetics(clinical)


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