[CADASIL and CARASIL]

Area of Science:

• Neurology
• Genetics
• Pathology

Background:

• Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a genetic vascular disorder linked to NOTCH3 gene mutations.
• Cerebral autosomal recessive arteriopathy with subcortical infarcts and leucoencephalopathy (CARASIL) is a less understood hereditary vascular disease with unidentified genetic cause.
• Neither condition is associated with hypertension.

Purpose of the Study:

• To review the genetic, clinical, and pathological aspects of CADASIL and CARASIL.
• To highlight the differences between these two rare arteriopathies.

Main Methods:

• Literature review of genetic, clinical, and pathological findings for CADASIL and CARASIL.
• Comparative analysis of disease characteristics.

Main Results:

• CADASIL presents with migraines, strokes, cognitive decline, and specific arterial lesions, linked to NOTCH3 mutations.
• CARASIL is characterized by strokes, bone lesions, and alopecia, with an unknown genetic basis.
• Both are hereditary arteriopathies distinct from hypertensive cerebrovascular disease.

Conclusions:

• CADASIL and CARASIL represent distinct genetic arteriopathies affecting the brain.
• Understanding these differences is crucial for diagnosis and management of rare hereditary cerebrovascular diseases.