Here, we show that bi-allelic NIT1 loss-of-function variants cause a genetic cerebral small vessel disease, resulting in a triad of movement disorders, massively dilated perivascular spaces on brain MRI, and fatal deep ICH. We describe the clinical phenotype, neuroimaging features, and brain vess...
in both patients delivering at our medical center with cerebral venous sinus thrombosis and advanced to brain loss of life, correct tissues function and perfusion maintenance allowed body organ donation despite comprehensive thrombosis in the body organ donors, with favorable final result at six months...
Cerebral small vessel disease (SVD) is a frequent finding on CT and MRI scans of elderly people and is related to vascular risk factors and cognitive and motor impairment, ultimately leading to dementia or parkinsonism in some. In general, the relations are weak, and not all subjects with SVD...
Cerebral small vessel disease can be identified using magnetic resonance imaging, and includes white matter hyperintensities, lacunar infarcts, cerebral microbleeds, and brain atrophy. Cerebral small vessel disease and chronic kidney disease share many risk factors, including hypertension. This study aims ...
The following ICD-8/9/10 codes were used to extract comorbidities from the Swedish patient registry: type 2 diabetes (ICD10: E11-14, ICD8&9: 250); obesity (ICD10: E66: ICD 8 &9: 278A, 278B); ischemic heart disease (ICD10: I21, I22, I25.2, ICD8&9: 410, 411, 412); alco...