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Multimodal imaging analyses in patients with genetic and sporadic forms of small vessel disease

 Ko Woon Kim  ;  Hunki Kwon  ;  Young-Eun Kim  ;  Cindy W. Yoon  ;  Yeo Jin Kim  ;  Yong Bum Kim  ;  Jong Min Lee  ;  Won Tae Yoon  ;  Hee Jin Kim  ;  Jin San Lee  ;  Young Kyoung Jang  ;  Yeshin Kim  ;  Hyemin Jang  ;  Chang-Seok Ki  ;  Young Chul Youn  ;  Byoung-Soo Shin  ;  Oh Young Bang  ;  Gyeong-Moon Kim  ;  Chin-Sang Chung  ;  Seung Joo Kim  ;  Duk L. Na  ;  Marco Duering  ;  Hanna Cho  ;  Sang Won Seo 
 SCIENTIFIC REPORTS, Vol.9(1) : 781, 2019 
Journal Title
Issue Date
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.
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1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Cho, Hanna(조한나) ORCID logo https://orcid.org/0000-0001-5936-1546
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