Background and Purpose-In cerebral autosomal dominant arteriopathy with sub
cortical. infarcts and leukoencephalopathy (CADASIL), water diffusion chang
es suggestive of microstructural tissue alterations have been recently repo
rted in abnormal- and normal-appearing white matter as seen on T2-weighted
images. In the subcortical gray matter, typical lacunar infarcts are repeat
edly observed. Whether microstructural tissue changes are also present outs
ide these lesions within the putamen or thalamus remains unknown.
Methods-We used diffusion tensor imaging, an MRI method highly sensitive to
cerebral microstructure, in 20 CADASIL patients and 12 controls. Both the
trace of the diffusion tensor [Tr(D)] and an anisotropic diffusion index (v
olume ratio) of diffusion were measured within the putamen and thalamus out
side typical lacunar infarcts as detected on both T1- and T2-weighted image
s.
Results-A significant increase in Tr(D) and a decrease in anisotropy were o
bserved in the putamen and thalamus in patients. The right/left indices of
Tr(D) in the thalamus, but not in the putamen, were strongly correlated wit
h the corresponding indices calculated in the white matter of the centrum.
semiovale. In addition, the diffusion increase in the thalamus was positive
ly correlated with Tr(D) and with the load of small deep infarcts within th
e white matter and negatively correlated with the Mini-Mental State Examina
tion score.
Conclusions-Our results suggest that microstructural tissue alterations are
present in the putamen and thalamus, outside the typical lacunar infarcts
in CADASIL. In the thalamus, these microstructural changes appear constant
and are even observed in asymptomatic subjects. Some of these thalamic chan
ges appear to result from degeneration of thalamocortical pathways secondar
y to ischemic white matter damage. The importance of this degenerative phen
omenon in the pathophysiology of CADASIL requires further investigation.