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

A Nationwide Survey and Multicenter Registry-Based Database of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy in Japan

“…The majority of NOTCH3 gene mutations existed in exon 4 in Japan. This result is similar to the previous Japanese reports (Ueda et al, 2015;Mizuta et al, 2017;Koizumi et al, 2019). Previous studies showed a high frequency of NOTCH3 gene mutation in exon 4 in Asian and European populations except Italy (Markus et al, 2002;Peters et al, 2004;Adib-Samii et al, 2010;Wang et al, 2011;Bianchi et al, 2015).…”

“…Previous studies showed a high frequency of NOTCH3 gene mutation in exon 4 in Asian and European populations except Italy (Markus et al, 2002;Peters et al, 2004;Adib-Samii et al, 2010;Wang et al, 2011;Bianchi et al, 2015). Our study showed a lower prevalence of NOTCH3 mutations in exon 3, especially the R75P, than previous reports in Japan (Ueda et al, 2015;Mizuta et al, 2017;Koizumi et al, 2019).…”

“…In terms of past histories, the presence of vascular risk factors with hypertension and/or diabetes mellitus had a lower tendency than other European and Asian populations (Peters et al, 2004;Singhal et al, 2004;Herve et al, 2009;Ciolli et al, 2014;Bianchi et al, 2015;Kang and Kim, 2015;Nannucci et al, 2018). The prevalence rate of dyslipidemia was in the range of previous reports (Peters et al, 2004;Herve et al, 2009;Adib-Samii et al, 2010;Ciolli et al, 2014;Kang and Kim, 2015;Nannucci et al, 2018;Koizumi et al, 2019). The prevalence rate of hypertension and diabetes mellitus in Japan (14.8 and 1.1%) seems to be much lower than the other countries (20-35.6% and 3-12.7%) (Peters et al, 2004; Singhal et al, 2004;Herve et al, 2009;Adib-Samii et al, 2010;Ciolli et al, 2014;Bianchi et al, 2015;Kang and Kim, 2015;Nannucci et al, 2018) similar to the previous report (Mizuta et al, 2017).…”

“…We also described a tendency of a low prevalence rate of migraine with aura in Japanese patients (13.6%) compared to the European counterparts. Table 3 shows the difference in CADASIL patients between Japan and other countries (Peters et al, 2004;Singhal et al, 2004;Kim et al, 2006;Herve et al, 2009;Adib-Samii et al, 2010;Wang et al, 2011;Pescini et al, 2012;Ciolli et al, 2014;Bianchi et al, 2015;Kang and Kim, 2015;Ueda et al, 2015;Nannucci et al, 2018;Koizumi et al, 2019). This table reveals a trend: a higher prevalence rate of migraine in European countries (34-75.3%) (Peters et al, 2004;Adib-Samii et al, 2010;Pescini et al, 2012;Ciolli et al, 2014;Bianchi et al, 2015;Nannucci et al, 2018), but a much lower prevalence in other Asian countries such as China and South Korea (4-8.7%) (Kim et al, 2006;Wang et al, 2011;Kang and Kim, 2015).…”

“…Although, Mizuta et al (2017) found no significant difference in the clinical features of CADASIL between Japan and other countries, a nationwide survey in Japan was not conducted until 2019. The prevalence of migraines in Japanese CADASIL patients has been reported to be approximately 26.9-44.3% (Santa et al, 2003;Ueda et al, 2015;Mizuta et al, 2017;Koizumi et al, 2019), whereas a much lower prevalence of migraine has been reported in other Asian countries (Kim et al, 2006;Wang et al, 2011;Kang and Kim, 2015). While the clinical features of Asian CADASIL patients could be different from Caucasian patients (Kim et al, 2006;Wang et al, 2011;Choi et al, 2013;Kang and Kim, 2015), Japanese CADASIL patients might have other clinical characteristics.…”