第七届北京罕见病学术大会暨2019京津冀罕见病学术大会征文（130）

1Ling C， 1Sun YC， 2Zhang ZH， 1Fang XJ， 1Zhang W， 1Wang ZX， 1Yuan Y

1 Department of Neurology Peking University First Hospital

2 State Key Laboratory of Brain and Cognitive Science， Beijing MR Center for Brain Research， Institute of Biophysics， Chinese Academy of Sciences

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) mainly affects the cerebral arterioles. Lacunar infarcts appeared usuall in basal ganglia. We aimed to analyze the changes of lenticulostriate arteries (LSAs) and basal ganglia in CADASIL patients by high-field MRI (7.0-T MRI). Methods: We examined forty-six CADASIL patients (mean age: 42.80 ± 9.46 years) and forty-six age-matched healthy individuals (mean age: 42.22 ± 10.78 years) with a 7.0-T MRI scanner. Then the number of stems and branches of the LSAs， the number of lacunar infarctions (LIs) and cerebral microbleeds (CMBs) in basal ganglia as well as age related white matter change (ARWMC) scores of the basal ganglia were calculated and compared among CADASIL patients and healthy controls. The correlation between the number of LSAs and the MRI lesions of basal ganglia was also analyzed. Results: The media number of LSAs stems was 6.5 in CADASIL patients， 7.5 in healthy controls. The media number of LSAs branches was 11 in CADASIL patients， 12 in healthy controls. CADASIL patients had decreased number of LSAs branches (P = 0.010) compared with controls， while the number of stems remained no different (P = 0.206). This difference was abolished in older CADASIL patients (≥ 45 years old) (P = 0.341) and female patients (P = 0.135)， whereas younger CADASIL patients (< 45 years old) (P = 0.004) and male patients (P = 0.023) still had fewer LSAs branches than controls. LIs (35/38， 89.74%) and white matter hyperintensities (WMHs) (36/38， 92.31%) were more common than CMBs (10/38， 25.64%) in basal ganglia. Multiple regression analysis indicated no correlation between the number of LSAs and the number of LIs in basal ganglia (t??????????P =0.174)， the number of CMBs in basal ganglia (t???????????P =0.451) or the ARWMC scores of basal ganglia (t??????????P =0.752) in CADASIL patients. Conclusions: CADASIL patients had fewer number of LSAs branches， especially in younger and male subjects. No correlation between the number of LSAs and the MRI lesions of basal ganglia was found in CADASIL.