Clinical features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
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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)
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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
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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
Frequency and Predictors of Dysphagia in Patients With Recent Small Subcortical Infarcts
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DOI: 10.1161/strokeaha.116.015625
Abstract: Background and Purpose— Detailed data on the occurrence of swallowing dysfunction in patients with recent small subcortical infarcts (RSSI) in the context of cerebral small vessel disease are lacking. This prompted us to assess the… read more here.
Keywords: frequency; subcortical infarcts; patients recent; recent small ... See more keywords
Telemedicine for Follow-Up of Rare Neurological Disease: Development and Evaluation in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
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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.
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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
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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
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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