Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: structural MR imaging changes and apolipoprotein E genotype.
OBJECTIVE
Apolipoprotein E (apoE) genotype plays an important role in the development, maintenance, and response to injury of the central nervous system. It has been suggested that apoE epsilon4 genotype is a risk factor for several neurologic disorders. We investigated the correlation between the apoE genotype and radiologic data in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).


METHODS
T1-weighted, dual fast spin-echo, T2*-weighted gradient echo, and fluid-attenuated inversion recovery MR imaging scans were obtained from 36 CADASIL patients (21-59 years of age). The number of lacunar infarcts and microbleeds and the presence of subcortical lacunar lesions were determined. The amount of white matter hyperintensities was assessed by using semiautomated segmentation software. The relation between the radiologic endophenotype of CADASIL and the apoE genotype was assessed by using a Student t test for unpaired data and Fisher exact test.


RESULTS
White matter hyperintensities, lacunar infarcts, microbleeds, and subcortical lacunar lesions were not found to be associated with the presence of an epsilon4 allele.


CONCLUSIONS
The variability of structural MR imaging lesions in CADASIL is independent of apoE genotype and other processes must underlie the variable natural history of the disease.
van den Boom
R
R
Department of Radiology, Leiden University Medical Center, Leiden, Netherlands.
Lesnick Oberstein
S A J
SA
van den Berg-Huysmans
A A
AA
Ferrari
M D
MD
van Buchem
M A
MA
Haan
J
J
D000328:Adult; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics*; D001921:Brain / Q000473:pathology; D046589:CADASIL / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics; D013223:Statistics as Topic
D053327:Apolipoprotein E4; D001057:Apolipoproteins E; C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch