CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) adalah penyakit herediter langka dengan prevalensi 4,14 per 100.000. Penyakit ini disebabkan mutasi gen Notch 3 pada kromosom 19. Manifestasi klinisnya bervariasi dengan onset gejala awal migrain dengan aura. Pada tahap lanjut akan dijumpai lesi infark multipel di area subkortikal. Pasien juga dapat mengalami gangguan psikiatri dan neurobehaviour. Tidak ada terapi kausal, dapat diberikan terapi simptomatik.
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a rare hereditary disease with a prevalence of 4.14 per 100,000. The disease is caused by a mutation of the Notch 3 gene on chromosome 19. The clinical manifestations vary with the onset of initial symptoms is migraine with aura. In advanced stages, there will be multiple infarct lesions in the subcortical area. Patients may also experience psychiatric and neurobehavioral disorders. There is no causal therapy, only symptomatic therapy.
<p>CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) adalah penyakit herediter langka dengan prevalensi 4.14 per 100.000. Penyakit ini disebabkan mutasi gen Notch 3 pada kromosom 19. Manifestasi klinisnya bervariasi dengan onset gejala awal migrain dengan aura. Pada tahap lanjut akan dijumpai lesi infark multipel di area subkortikal. Pasien juga dapat mengalami gangguan psikiatri dan neurobehaviour. Tidak ada terapi kausal, dapat diberikan terapi simptomatik.</p><p>CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a rare hereditary disease with a prevalence of 4.14 per 100,000. The disease is caused by a mutation of the Notch 3 gene on chromosome 19. The clinical manifestations vary with the onset of initial symptoms is migraine with aura. In advanced stages, there will be multiple infarct lesions in the subcortical area. Patients may also experience psychiatric and neurobehavioral disorders. There is no causal therapy, only symptomatic therapy.</p>
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.