[Hereditary autosomal dominant brain infarction]

Area of Science:

• Neurology
• Genetics
• Pathology

Context:

• Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare genetic disorder.
• It is characterized by recurrent strokes and progressive vascular dementia.
• Pathological findings include small, deep infarcts and abnormalities in cerebral small arteries.

Purpose:

• To review the key aspects of CADASIL.
• To highlight the genetic basis and pathological hallmarks of the condition.
• To discuss diagnostic approaches and the current lack of causal treatment.

Summary:

• CADASIL is an inherited condition causing stroke and vascular dementia, linked to mutations in the Notch 3 gene.
• Pathology reveals non-atherosclerotic angiopathy in small cerebral arteries with smooth muscle cell alterations.
• Diagnosis can involve skin and muscle biopsies, though no causal treatment exists.

Impact:

• Increases understanding of CADASIL's genetic and pathological underpinnings.
• Emphasizes the need for improved diagnostic methods and therapeutic strategies.
• Provides a concise overview for researchers and clinicians in the field.