CADASIL or CADVaSIL?

Area of Science:

• Neurology
• Pathology
• Genetics

Background:

• Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare genetic disorder.
• It primarily affects cerebral blood vessels, leading to stroke and cognitive decline.

Purpose of the Study:

• To investigate the full morphological spectrum of CADASIL.
• To determine if the disease affects vessels beyond the brain and small cerebral vessels.

Main Methods:

• Light and electron microscopy were used to examine blood vessels from two Polish families with CADASIL.
• Vessels from the brain and internal organs were analyzed.

Main Results:

• Characteristic pathological changes were observed in cerebral arteries and veins.
• Granular osmiophilic material (GOM) deposits were found in cerebral capillaries and vessels of internal organs.
• These deposits occurred in vessels lacking smooth muscle cells.

Conclusions:

• The pathological process in CADASIL is generalized, affecting small vessels throughout the body, including capillaries.
• The findings support a broader understanding of CADASIL pathology beyond large cerebral arteries.
• A name change, such as cerebral autosomal dominant vasculopathy with subcortical infarcts and leukoencephalopathy (CADVaSIL), is proposed to better reflect the disease's morphology.