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Single gene disorders associated with stroke: a review and update on treatment options

Hurmina Muqtadar1, Fernando D Testai

  • 1Department of Neurology and Rehabilitation, University of Illinois College of Medicine at Chicago, 912 S. Wood Street Room 855N, Chicago, IL, 60612, USA, hmuqtada@uic.edu.

Current Treatment Options in Cardiovascular Medicine
|April 25, 2012
PubMed

Insights

Rare single gene disorders can cause stroke. Identifying these conditions, including CADASIL, CARASIL, Fabry disease, sickle cell disease, and MELAS, aids prognosis and stroke prevention.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Medicine

Background:

  • Single gene disorders are uncommon causes of stroke, particularly in cryptogenic stroke cases.
  • Identifying these genetic conditions is crucial for accurate prognosis and tailored stroke prevention strategies.

Purpose of the Study:

  • To review the clinical features, diagnostic approaches, and treatment options for specific single gene stroke disorders.

Main Methods:

  • Literature review of single gene stroke disorders.
  • Summarized clinical presentations, diagnostic criteria, and therapeutic interventions.

Main Results:

  • Detailed the characteristics of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
  • Described cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).
  • Outlined Fabry disease, sickle cell disease, and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) as single gene stroke causes.

Conclusions:

  • Single gene disorders represent a distinct category of stroke etiology.
  • Early diagnosis and management of these rare conditions are essential for improving patient outcomes and preventing recurrent strokes.
Abstract

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