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To characterize this familial condition,43 members older than 20 years and spreading over four generations were studied clinically(31 living,12 deceased),genetically,and radiologically by MRI(n=31).Twenty out of 43 were found to be clinically symptomatic and of these 13 out of 31 had MRI abnormalities.Genetic studies mapped this condition to the locus of CADASIL(lod score>3).The natural history suggests a chronological clinico- radiological staging of this phenotype of CADASIL:stage I between 20 and 40 years with frequent migraine-like episodes and well delineated lesions of the white matter;state II between 40 and 60 years with stroke-like episodes,bipolar or monopolar-like psychotic disorders,coalescent lesions of the white matter,and well delineated lesions of the basal ganglia;and state III over 60 years with subcortical dementia,pseudobulbar palsy, diffuse leukoencephalopathy,and multiple well delineated lesions of the basal ganglia.This phenotype differs from the other two previously described by high frequency of migraine,frequency of psychotic disorders, and early neurological manifestations.The new acronym"cerebral autosomal dominant arteriopathy with subcortical infarcts,leukoencephalopathy,and migraine"(CADASILM)is proposed to better describe this particular subvariety of CADASIL. |
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