Cerebral Autosomal Dominant Arteriopathy (CADASIL) with cardiac involvement (ANOCA) and subcortical leukencephalopathy.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of cardiovascular computed tomography"
DOI: 10.1016/j.jcct.2018.08.005
Abstract: We report a rare case of a CADASIL-syndrome with cardiac involvement presenting as ANOCA (angina in the absence of obstructive coronary artery disease). Our case highlights the added value of non-invasive fractional flow reserve (FFR)CT… read more here.
Keywords: cadasil; dominant arteriopathy; cardiac involvement; autosomal dominant ... See more keywords
Non-convulsive status epilepticus as the initial manifestation in a family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Sign Up to like & getrecommendations! Published in 2020 at "Neurologia"
DOI: 10.1016/j.nrl.2020.04.026
Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease caused by mutations of the NOTCH3 gene. It typically presents with migraine, recurrent brain ischaemia, and cognitive disorders. Seizures… read more here.
Keywords: manifestation; dominant arteriopathy; status epilepticus; autosomal dominant ... See more keywords
Constructional Impairments and Their Neural Correlates in Nondemented Adults With Cerebral Autosomal-dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
Sign Up to like & getrecommendations! Published in 2022 at "Cognitive and Behavioral Neurology"
DOI: 10.1097/wnn.0000000000000318
Abstract: Background: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic small-vessel disease that is characterized by a wide range of neurologic and neuropsychological impairments. Constructional impairments have been reported in some cases… read more here.
Keywords: cerebral autosomal; individuals cadasil; arteriopathy subcortical; dominant arteriopathy ... See more keywords
Clinical features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
Sign Up to like & getrecommendations! Published in 2022 at "Acta Neurologica Scandinavica"
DOI: 10.1111/ane.13703
Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by pathogenic variants in the NOTCH3 gene. In Finland, the majority of CADASIL patients carry the pathogenic founder… read more here.
Keywords: arteriopathy subcortical; subcortical infarcts; dominant arteriopathy; autosomal dominant ... See more keywords
Nuclear abnormalities in vascular myocytes in cerebral autosomal‐dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
Sign Up to like & getrecommendations! Published in 2018 at "Neuropathology"
DOI: 10.1111/neup.12519
Abstract: Cerebral autosomal‐dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a stroke and dementia syndrome with degeneration and loss of vascular smooth muscle cells (VSMCs). The disease is due to mutations in NOTCH3 playing an… read more here.
Keywords: infarcts leukoencephalopathy; subcortical infarcts; dominant arteriopathy; autosomal dominant ... See more keywords
Telemedicine for Follow-Up of Rare Neurological Disease: Development and Evaluation in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
Sign Up to like & getrecommendations! Published in 2019 at "Stroke"
DOI: 10.1161/strokeaha.118.023779
Abstract: Background and Purpose— Providing ongoing care for rare neurological conditions is challenging. Telemedicine can reduce patient travel. We set up and evaluated a telemedicine service for patients with a genetic form of stroke and dementia… read more here.
Keywords: cerebral autosomal; face; subcortical infarcts; dominant arteriopathy ... See more keywords
Intracerebral Hemorrhage in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: Prevalence, Clinical and Neuroimaging Features and Risk Factors.
Sign Up to like & getrecommendations! Published in 2021 at "Stroke"
DOI: 10.1161/strokeaha.120.030664
Abstract: BACKGROUND AND PURPOSE Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic cerebral small vessel disease. The role of intracerebral hemorrhage (ICH) in CADASIL remains elusive. The present study aims to… read more here.
Keywords: cerebral autosomal; subcortical infarcts; ich lesions; dominant arteriopathy ... See more keywords
Concentration of non-myocyte proteins in arterial media of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Sign Up to like & getrecommendations! Published in 2023 at "PLOS ONE"
DOI: 10.1371/journal.pone.0281094
Abstract: The most common inherited cause of vascular dementia and stroke, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), is caused by mutations in NOTCH3. Post-translationally altered NOTCH3 accumulates in the vascular media of… read more here.
Keywords: arteriopathy subcortical; subcortical infarcts; dominant arteriopathy; autosomal dominant ... See more keywords
Heterozygous Cysteine-sparing NOTCH3 Variant p.Val237Met in a Japanese Patient with Suspected Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Sign Up to like & getrecommendations! Published in 2021 at "Internal Medicine"
DOI: 10.2169/internalmedicine.6096-20
Abstract: A 64-year-old Japanese man with recurrent cerebral ischemic events and cognitive impairment was suspected of having cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) because of a family history and brain magnetic resonance… read more here.
Keywords: subcortical infarcts; dominant arteriopathy; suspected cerebral; autosomal dominant ... See more keywords
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Atypical clinical presentation with isolated frontotemporal dementia
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Neurosciences in Rural Practice"
DOI: 10.25259/jnrp_88_2023
Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary syndrome caused by heterozygous mutations in the NOTCH3 gene that manifests in adulthood and is characterized by recurrent transient ischemic attacks and… read more here.
Keywords: arteriopathy subcortical; infarcts leukoencephalopathy; subcortical infarcts; dominant arteriopathy ... See more keywords
Lenticulostriate Arteries and Basal Ganglia Changes in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy, a High-Field MRI Study
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2019.00870
Abstract: Background and Purpose: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) mainly affects the cerebral small arteries. We aimed to analyze changes in the lenticulostriate arteries (LSAs) and the basal ganglia in patients… read more here.
Keywords: dominant arteriopathy; association; autosomal dominant; cerebral autosomal ... See more keywords