Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR imaging findings at different ages--3rd-6th decades.
OBJECTIVE
To depict various brain lesions that have been described in patients who have cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with prospective standardized magnetic resonance (MR) imaging in patients of different age groups.


METHODS
Forty patients with CADASIL in different age groups (20-30 years, n = 5; 31-40 years, n = 4; 41-50 years, n = 16; 51-60 years, n = 15) underwent transverse MR imaging with T1-weighted dual fast spin-echo, fluid-attenuated inversion-recovery, and T2*-weighted gradient-echo sequences. Images were analyzed by one neuroradiologist for the presence of areas of hyperintensity, lacunar infarcts, microbleeds, and subcortical lacunar lesions (SLLs) in different anatomic locations. Descriptive statistics were obtained for the presence of MR imaging abnormalities in various brain areas and for distribution according to age.


RESULTS
The mean age of the 40 mutation carriers (21 women, 19 men) was 45 years +/- 10 (SD). In patients with CADASIL who were 20-30 years old, characteristic hyperintense lesions in the anterior temporal lobe (100% [five of five]) and SLLs (20% [one of five]) were the only abnormalities seen on MR images. In patients who were 30-40 years old, lacunar infarcts were found in 75% (three of four) of cases. More areas of hyperintensity were noted, and they frequently involved the external capsule, basal ganglia, and brainstem. In patients 41-50 years old, microbleeds were observed in 19% (three of 16). In patients older than 50 years, areas of hyperintensity (100% [15 of 15]), SLLs (73% [11 of 15]), lacunar infarcts (93% [14 of 15]), and microbleeds (47% [seven of 15]) were frequently observed.


CONCLUSIONS
The four types of brain lesions that are observed in patients with CADASIL were seen in patients of different age groups.
Departments of Radiology, Clinical Genetics, and Neurology, Leiden University Medical Center, C2S, Albinusdreef 2, 2333 ZA Leiden, The Netherlands. r.van_den_boom@lumc.nl
Rivka
R
van den Boom
Saskia A J
SA
Lesnik Oberstein
Michel D
MD
Ferrari
Joost
J
Haan
Mark A
MA
van Buchem
D000328:Adult; D000367:Age Factors; D015161:Dementia, Multi-Infarct / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009154:Mutation; D013702:Temporal Lobe / Q000473:pathology