[CADASIL syndrome - cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy].
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited neurodegenerative disease associated with mutations in the Notch 3 receptor on vascular smooth muscle cells. Clinically the syndrome is manifested as migraine, recurrent subcortical ischaemic events, dementia and mood disorders. CADASIL, considered one of the important causes of "subcortical vascular dementia", is relatively easy to overlook or misdiagnose if it is not taken into consideration in differential diagnosis. Diagnosis of CADASIL is established on the basis of results of skin biopsy and genetic examination. In this article we present a short review of the literature concerning pathogenesis and clinical presentation of the syndrome and provide recommendations for detection, diagnosis and management strategies.
Dziewulska
Dorota
D
Katedra i Klinika Neurologii Warszawski Uniwersytet Medyczny. dorota.dziewulska@wum.edu.pl
Kwieciński
Hubert
H
D002545:Brain Ischemia / Q000235:genetics; D046589:CADASIL / Q000175:diagnosis* / Q000235:genetics*; D003704:Dementia / Q000235:genetics; D003937:Diagnosis, Differential; D006801:Humans; D008279:Magnetic Resonance Imaging; D008881:Migraine Disorders / Q000235:genetics; D019964:Mood Disorders / Q000235:genetics; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch