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CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is an autosomal dominant genetic disease with subcortical infarction and leukoencephalopathy
.
Autosomal dominant cerebral arterial disease with subcortical infarction and leukoencephalopathy is a hereditary small artery disease, which is caused by a mutation of Notch3 gene located on chromosome 19, which manifests as cortex Ischemic event and leads to progressive dementia with pseudobulbar palsy
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is an autosomal dominant genetic disease with subcortical infarction and leukoencephalopathy
Previous studies have reported that patients with autosomal dominant cerebral artery disease with subcortical infarction and leukoencephalopathy (CADASIL) have cerebral hypoperfusion
.
As a kind of cerebral small vessel disease, the decrease of blood flow velocity in small cerebral arteries may precede the formation of cerebral hypoperfusion and pathological changes
Previous studies have reported that patients with autosomal dominant cerebral artery disease with subcortical infarction and leukoencephalopathy (CADASIL) have cerebral hypoperfusion
From September 2019 to September 2020, 32 CADASIL patients and 34 healthy controls were registered
in Peking University First Hospital .
Details of subject selection, clinical evaluation, MRI acquisition and analysis are registered
From September 2019 to September 2020, 32 CADASIL patients and 34 healthy controls were registered
Among the 26 patients who underwent MMSE cognitive assessment, 9 had abnormal MMSE scores
Representative speed graphs of different study groups
.
(A) Symptomatic CADASIL patients, (B) age-matched and sex-matched carriers of the asymptomatic NOTCH3 pathogenic variant, (C) age-matched and sex-matched representative cases of a healthy control group
Compared with the control group (11.
75±1.
07 cm/s), the LSA blood flow velocity in the CADASIL group was lower (10.
04±1.
82 cm/s) (p<0.
001)
.
In addition, the blood flow velocity of LSA in asymptomatic carriers (11.
There was no difference between the number of LSAs in CADASIL patients and the control group (p=0.
SunC ,WuY ,Ling C Sun CSun Wu YWu Ling CLing, et alReduced blood flow velocity in lenticulostriate arteries of patients with CADASIL assessed by PC-MRA at 7TJournal of Neurology, Neurosurgery & Psychiatry Published Online First: 28 September 2021.
Published Online First: doi: 10.
1136/jnnp-2021-326258doi:Leave a message here
