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Posted by Annapaola Prestia Laboratory of Epidemiology Neuroimaging and Telemedicine, IRCCS Centro San Giovanni di Dio FBF, The National Centre for Research and Care of Alzheimer’s and Mental Diseases, Brescia, Italy

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease of the brain caused by mutations of the Notch3 gene on chromosome 19. In the present study, authors evaluated the gender effect on the clinical and neuroimaging manifestations of CADASIL in a large cohort of patients. A total of 313 CADASIL patients having a typical mutation of the Notch3 gene were included in the study. Cross-sectional data including various clinical and cognitive scores and MRI parameters were compared between men and women, and between those younger and older than the median age of the population corresponding to the usual age of menopause (51 years). There are 2 main findings in this large sample of CADASIL patients. Firstly, before the usual age of menopause, migraine with aura appears to be more prevalent and stroke appears to be less prevalent in women than in men, and this difference vanishes after the fifth decade. Secondly, in the whole population, men present more apathy and a higher degree of cerebral atrophy, with a trend for a larger volume of subcortical infarcts. Moreover, after the fifth decade, men have more executive dysfunction and disability than women. The presumable role of ovarian hormones in these gender-related differences remains to be explored.