[The hereditary vessel disease CADASIL].

Area of Science:

• Neurology
• Genetics
• Vascular Biology

Background:

• Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary small vessel disease.
• It is characterized by progressive white matter lesions, subcortical infarcts, and cognitive decline.

Purpose of the Study:

• To describe the genetic basis, clinical manifestations, and diagnostic features of CADASIL.
• To highlight the role of neuroimaging in identifying characteristic patterns of brain abnormalities.

Main Methods:

• Review of existing literature on CADASIL.
• Analysis of genetic mutations in the NOTCH3 gene.
• Correlation of clinical symptoms with neuroimaging findings.

Main Results:

• CADASIL is caused by autosomal dominant mutations in the NOTCH3 gene.
• Pathology involves granular osmiophilic material in small artery walls.
• Clinical presentation includes ischemic events, migraine with aura, mood disturbances, and cognitive impairment.

Conclusions:

• NOTCH3 gene mutations are the primary cause of CADASIL.
• Characteristic neuroimaging findings, especially white matter hyperintensities in specific brain regions, aid diagnosis.
• Understanding CADASIL is crucial for managing this progressive cerebrovascular disorder.