[CADASIL. Clinical aspects, neuroradiology, genetics and diagnosis].
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral vasculopathy progressing to subcortical dementia, caused by multiple lacunar infarcts and ischemic white matter degeneration. Migraine with aura, epileptic seizures and affective disorders are frequent additional symptoms of CADASIL. The causative mutations of the Notch3 gene are located on chromosome 19p13.1. There is complete penetrance of this disorder, although individual expression of symptoms may vary. Manifestation of CADASIL is usually in the 3rd decade, but some individuals remain asymptomatic close to the age of 60. MRI displays a marked leukoencephalopathy in affected individuals as early as in the age of 20. Frontal and subcortical hypoperfusion in demented individuals was demonstrated by SPECT-studies. The prevalence of CADASIL is still not known. To date there is no causative therapy.
Mellies
J K
JK
Westfälisches Zentrum für Psychiatrie und Psychotherapie Bochum, Ruhr-Universität Bochum. joerg.k.mellies@ruhr-uni-bochum.de
Calabrese
P
P
Roth
H
H
Gehlen
W
W
D015161:Dementia, Multi-Infarct / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics / Q000523:psychology; D006801:Humans; D010375:Pedigree; D011859:Radiography