CADASIL management or what to do when there is little one can do

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare disease that leads to migraine, mood disorders, recurrent lacunar strokes and early vascular dementia. This autosomal-dominant condition is caused by mutations in the NOTCH3 gene and is characterized by degeneration of vascular smooth muscle cells. At present, no evidence-based treatment for CADASIL is available and only relief of symptoms can be offered to patients. This review focuses on an update of CADASIL management, based on the recent clinical and basic evidence, and discusses possible new treatment targets for CADASIL.

Keywords::

• CADASIL
• notch3
• reactive oxygen species
• sirtuin
• stroke
• vascular dementia
• vascular smooth muscle cell

Acknowledgement

The authors would like to thank Anna Vilalta for help with manuscript preparation.

Financial & competing interests disclosure

This study was funded by the stroke research network (RENEVAS). A del Río-Espínola has a grant from the Vall d’Hebrón Research Institute; M Mendióroz is the recipient of a grant from the Instituto de Salud Carlos III for medical research training (FI05/00081); S Domingues-Montanari is the recipient of a grant from the Ramón Areces Fundation; P Pozo-Rosich has a grant for Post-Medical Sanitary Specialization (postMIR); and I Fernández-Cadenas has a post-doctoral research contract from RENEVAS. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.