CADASIL is an hereditary cerebral arteriopathy leading to progressive disability and dementia that usually presents clinically around 60 years of age. This paper reports 4 patients aged over 60 with typical Notch 3 mutations leading to CADASIL, who had neither dementia nor disability. Three presented with transient neurological manifestations only. MRI showed extensive hyperintense signal in the white matter on T2 - weighted images, in marked contrast to the paucity of lacunar infarcts.
These cases suggest that silent or symptomatic infarcts, which were rare in these relatively asymptomatic patients, may be responsible for clinical severity in this disorder.
© 2006 Elsevier Masson SAS. Tous droits réservés.