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Multimodal imaging analyses in patients with genetic and sporadic forms of small vessel disease
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Multimodal imaging analyses in patients with genetic and sporadic forms of small vessel disease
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Multimodal imaging analyses in patients with genetic and sporadic forms of small vessel disease
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Journal Article
Multimodal imaging analyses in patients with genetic and sporadic forms of small vessel disease
2019
Overview
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is thought to be a pure genetic form of subcortical vascular cognitive impairment (SVCI). The aim of this study was to compare white matter integrity and cortical thickness between typical CADASIL, a genetic form, and two sporadic forms of SVCI (with
NOTCH3
and without
NOTCH3
variants). We enrolled typical CADASIL patients (N = 11) and SVCI patients [with
NOTCH3
variants (N = 15), without
NOTCH3
variants (N = 101)]. To adjust the age difference, which reflects the known difference in clinical and radiologic courses between typical CADASIL patients and SVCI patients, we constructed a W-score of measurement for diffusion tensor image and cortical thickness. Typical CADASIL patients showed more frequent white matter hyperintensities in the bilateral posterior temporal region compared to SVCI patients (
p
< 0.001, uncorrected). We found that SVCI patients, regardless of the presence of
NOTCH3
variants, showed significantly greater microstructural alterations (W-score,
p
< 0.05, FWE-corrected) and cortical thinning (W-score,
p
< 0.05, FDR-corrected) than typical CADASIL patients. In this study, typical CADASIL and SVCI showed distinct anatomic vulnerabilities in the cortical and subcortical structures. However, there was no difference between SVCI with
NOTCH3
variants and SVCI without
NOTCH3
variants.
