The CADASIL Scale-J, A Modified Scale to Prioritize Access to Genetic Testing for Japanese CADASIL-Suspected Patients

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is definitely diagnosed by genetic testing. Such testing involves the analysis of exons 2-24 of NOTCH3, which encode the epidermal growth factor-like repeat domain, where CADASIL mutations are localized. We previously reported clinical diagnostic criteria for screening CADASIL-suspected Japanese patients prior to genetic testing. Because of its high sensitivity but low specificity, most patients need to undergo genetic testing.

Source: Journal of Stroke and Cerebrovascular Diseases - April 3, 2019 Category: Neurology Authors: Takashi Koizumi, Ikuko Mizuta, Akiko Watanabe-Hosomi, Mao Mukai, Ai Hamano, Jun Matsuura, Tomoyuki Ohara, Toshiki Mizuno Source Type: research