Cognition, mood and behavior in CADASIL

Hugues Chabriat; Saskia Lesnik Oberstein

doi:10.1016/j.cccb.2022.100043

Cognition, mood and behavior in CADASIL

Cereb Circ Cogn Behav. 2022 Feb 9:3:100043. doi: 10.1016/j.cccb.2022.100043. eCollection 2022.

Authors

Hugues Chabriat¹, Saskia Lesnik Oberstein²

Affiliations

¹ Referral Center for Rare Neurovascular Disorder, Translational Neurovascular Centre and CERVCO, Hopital Lariboisiere, APHP, 2 Rue A Paré, Paris 7010, France; University of Paris and INSERM U1141.
² Department of Clinical Genetics, Leiden University Medical Center, The Netherland.

Abstract

CADASIL is the most common familial cerebral small vessel disease (cSVD). Stereotyped mutations of the NOTCH3 gene are responsible for this archetypal ischemic cSVD that can lead, at the very end stage, to severe dementia. Variable cognitive alterations, mood, or behavior disturbances are frequently observed during the course of the disease. In this review, these clinical manifestations, their occurrence, severity and duration are analyzed in relation to the disease progression. Also, the potential relationships with cerebral lesions and treatment options are discussed.