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Genetic Causes of Cerebral Small Vessel Diseases: A Practical Guide for Neurologists

Arianna Manini1, Leonardo Pantoni2

  • 1From the Stroke and Dementia Lab (A.M., L.P.), Department of Biomedical and Clinical Sciences, University of Milan, Italy; Department of Neurology and Laboratory of Neuroscience (A.M.), IRCCS Istituto Auxologico Italiano, Milan, Italy.

Neurology
|December 19, 2022
PubMed

Insights

Monogenic cerebral small vessel diseases (CSVD) present with overlapping symptoms, making genetic diagnosis challenging. This review offers a clinical flowchart to aid neurologists in identifying and assessing patients with genetic causes of CSVD.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Medicine

Background:

  • Cerebral small vessel disease (CSVD) encompasses diverse conditions affecting the brain's microvasculature.
  • Monogenic causes account for 1%-5% of strokes and present with varied neurological and non-neurological manifestations.
  • Overlapping phenotypes in monogenic CSVD complicate genetic diagnosis and patient selection for testing.

Purpose of the Study:

  • To review the clinical, neurological, non-neurological, and neuroimaging features of monogenic CSVD.
  • To provide a practical flowchart to guide neurologists in diagnosing monogenic CSVD.
  • To assist in selecting appropriate patients for genetic assessment and gene analysis.

Main Methods:

  • Systematic review of clinical, neurological, and neuroimaging findings in monogenic CSVD.
  • Development of a diagnostic flowchart based on patient presentation (stroke, hemorrhage, or other features).
  • Compilation of tables to support clinical decision-making.

Main Results:

  • Detailed summary of clinical and neuroimaging phenotypes associated with various monogenic CSVDs.
  • A structured flowchart categorizing diagnostic approaches based on ischemic stroke, cerebral hemorrhage, or other CSVD manifestations.
  • Guidance on selecting specific genes for analysis according to clinical presentation.

Conclusions:

  • Accurate diagnosis of monogenic CSVD is crucial for appropriate management and genetic counseling.
  • The provided flowchart and tables serve as valuable tools for neurologists in clinical practice.
  • Improved understanding and application of genetic testing can enhance the diagnosis and care of patients with monogenic CSVD.

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