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
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
Sign Up to like & getrecommendations! Published in 2021 at "Practical Neurology"
DOI: 10.1136/practneurol-2021-003058
Abstract: A 44-year-old Caucasian man presented with seizures and cognitive impairment. He had marked retinal drusen, and MR brain scan showed features of cerebral small vessel disease; he was diagnosed with a leukoencephalopathy of uncertain cause.… read more here.
Keywords: infarcts leukoencephalopathy; subcortical infarcts; autosomal recessive; recessive arteriopathy ... See more keywords
Abstract 38: New Mutations Linked to Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts and Leukoencephalopathy in Africa and North America
Sign Up to like & getrecommendations! Published in 2020 at "Stroke"
DOI: 10.1161/str.51.suppl_1.38
Abstract: Introduction: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare hereditary disease. It is linked to mutations in the high-temperature requirement A serine peptidase 1 gene ( HTRA1 ). The clinical… read more here.
Keywords: cerebral autosomal; carasil; autosomal recessive; subcortical infarcts ... 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
Trajectory Pattern of Cognitive Decline in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
Sign Up to like & getrecommendations! Published in 2022 at "Neurology"
DOI: 10.1212/wnl.0000000000200805
Abstract: Background and Objectives The course and pattern of cognitive decline in ischemic cerebral small vessel disease remain poorly characterized. We analyzed the trajectory pattern of cognitive decline from age 25 to 75 years in cerebral… read more here.
Keywords: decline; pattern cognitive; disease; trajectory pattern ... 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