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[Hereditary cerebral arteriopathy].

W Rein Gustavsen¹, Kristin Eiklid

¹Nevrologisk avdeling, Sykehuset Østfold Fredrikstad, 1603 Fredrikstad. w-rei@online.no

Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke

|November 18, 2003

Summary

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a genetic neurovascular disorder. This study identified the R182C mutation in two Norwegian families, confirming its role in CADASIL.

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Area of Science:

Neurology
Genetics
Neuroscience

Background:

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a hereditary neurovascular disease.
It is caused by mutations in the NOTCH3 gene and presents with diverse neurological symptoms.
Diagnostic methods include genetic testing, MRI, and skin biopsy.

Observation:

Two Norwegian families with suspected CADASIL were studied.
Eight family members exhibited symptoms consistent with the disease.
Genetic analysis was performed on affected and unaffected individuals.

Findings:

The R182C mutation in the NOTCH3 gene was identified in seven out of eight tested family members.
This specific mutation was found in exon 4.

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Two asymptomatic brothers also carried the R182C mutation, suggesting incomplete penetrance or pre-symptomatic status.

Implications:

This finding reinforces the R182C mutation as a cause of CADASIL.
It highlights the importance of genetic screening in families with a history of stroke or dementia.
The identification of asymptomatic carriers underscores the complexity of CADASIL and may inform future diagnostic and therapeutic strategies.