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Updated: Jul 14, 2026

A Thrombotic Stroke Model Based On Transient Cerebral Hypoxia-ischemia
06:01

A Thrombotic Stroke Model Based On Transient Cerebral Hypoxia-ischemia

Published on: August 18, 2015

Monogenic vessel diseases related to ischemic stroke: a clinical approach

E Ballabio1, A Bersano, N Bresolin

  • 1Dipartimento di Scienze Neurologiche, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, IRCCS,Via F.Sforza 35 Università degli Studi di Milano, Milano, Italy. eleballabio@yahoo.it

Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism
|June 21, 2007
PubMed

Insights

Identifying rare monogenic stroke causes is crucial for treatment and genetic counseling. This review details genetic, pathological, and clinical aspects of single-gene disorders linked to ischemic stroke.

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Monogenic disorders account for <1% of ischemic stroke cases.
  • Accurate diagnosis is vital for targeted therapies and genetic counseling.
  • Understanding these rare conditions improves patient management.

Purpose of the Study:

  • To review genetic, pathological, and clinical features of single-gene disorders causing ischemic stroke.
  • To provide a comprehensive overview of specific monogenic conditions associated with stroke.
  • To aid in identifying diagnostic pathways for suspected monogenic stroke.

Main Methods:

  • Literature review of monogenic disorders causing ischemic stroke.
  • Summarization of inheritance patterns, pathophysiology, and clinical phenotypes.
  • Classification of disorders based on stroke mechanisms (small vessel, large artery, dissection).

Main Results:

  • Detailed descriptions of conditions including CADASIL, ARSACS, HERS, Fabry disease, PXE, NF1, FMD, EDS IV, and Marfan syndrome.
  • Explanation of pathophysiological mechanisms and clinical presentations.
  • Categorization of monogenic stroke causes by underlying vascular pathology.

Conclusions:

  • This review consolidates key information on monogenic stroke disorders.
  • It serves as a resource for clinicians suspecting genetic causes of stroke.
  • Facilitates improved diagnostic strategies and genetic counseling for affected individuals.

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