Identification of a novel NOTCH3 mutation in an Italian family affected by a mild form of CADASIL
Sign Up to like & getrecommendations! Published in 2019 at "Neurological Sciences"
DOI: 10.1007/s10072-019-03774-x
Abstract: Dear Editor, Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary vascular disease characterized by five main neurological manifestations: migraine with aura, recurrent subcortical ischemic infarctions, mood disturbances, apathy, and… read more here.
Keywords: italian family; cadasil; family; form ... See more keywords
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
Two cases of NMOSD with MRI findings mimicking CADASIL.
Sign Up to like & getrecommendations! Published in 2020 at "Multiple sclerosis and related disorders"
DOI: 10.1016/j.msard.2020.102532
Abstract: PURPOSE The purpose of this study is to increase awareness of the importance of considering neuromyelitis optica spectrum disorder (NMOSD) as a differential diagnosis for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).… read more here.
Keywords: findings mimicking; cases nmosd; cadasil; nmosd mri ... See more keywords
The INECO Frontal Screening for the Evaluation of Executive Dysfunction in Cerebral Small Vessel Disease: Evidence from Quantitative MRI in a CADASIL Cohort from Colombia – Corrigendum
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the International Neuropsychological Society"
DOI: 10.1017/s1355617720000843
Abstract: Objectives Executive dysfunction is a predominant cognitive symptom in cerebral small vessel disease (SVD). The Institute of Cognitive Neurology Frontal Screening (IFS) is a well-validated screening tool allowing the rapid assessment of multiple components of… read more here.
Keywords: markers svd; executive dysfunction; ifs; mri ... See more keywords
Pregnancy in CADASIL
Sign Up to like & getrecommendations! Published in 2017 at "Acta Neurologica Scandinavica"
DOI: 10.1111/ane.12784
Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebral small vessel disease caused by NOTCH3 gene mutations. CADASIL women are frequently considered at high risk of systemic vascular events during… read more here.
Keywords: pregnancy cadasil; pregnancy; cadasil;
Abstract MP31: Peripheral Vascular Dysfunction In A Model Of Small Vessel Disease Of The Brain (CADASIL) Involves Impaired Redox-sensitive Cyclic GMP/PKG Signaling
Sign Up to like & getrecommendations! Published in 2020 at "Hypertension"
DOI: 10.1161/hyp.76.suppl_1.mp31
Abstract: CADASIL, a monogenic condition due to Notch3 mutations, is a very aggressive small vessel disease of the brain resulting in premature vascular dementia and stroke. Changes in cerebral vessels inclu... read more here.
Keywords: small vessel; cadasil; disease brain; vessel disease ... See more keywords
Plasma neurofilament light chain and glial fibrillary acidic protein predict stroke in CADASIL
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Neuroinflammation"
DOI: 10.1186/s12974-020-01813-5
Abstract: Background Stroke remains the most cumbersome disease burden in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). This study aimed to investigate whether plasma biomarkers can reflect disease severity and predict… read more here.
Keywords: neurofilament light; cadasil; cadasil patients; predict stroke ... See more keywords
Blood brain barrier leakage is not a consistent feature of white matter lesions in CADASIL
Sign Up to like & getrecommendations! Published in 2019 at "Acta Neuropathologica Communications"
DOI: 10.1186/s40478-019-0844-x
Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic paradigm of small vessel disease (SVD) caused by NOTCH3 mutations that stereotypically lead to the vascular accumulation of NOTCH3 around smooth muscle… read more here.
Keywords: cadasil; bbb; bbb leakage; leakage ... 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
Active immunotherapy reduces NOTCH3 deposition in brain capillaries in a CADASIL mouse model
Sign Up to like & getrecommendations! Published in 2022 at "EMBO Molecular Medicine"
DOI: 10.15252/emmm.202216556
Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic form of familial small vessel disease and no preventive or curative therapy is available. CADASIL is caused by mutations in… read more here.
Keywords: active immunotherapy; brain capillaries; notch3 deposition; cadasil ... See more keywords
CADASIL vs. Multiple Sclerosis: Is It Misdiagnosis or Concomitant? A Case Series
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2020.00860
Abstract: Introduction: Cerebral autosomal dominant arteriopathy and subcortical infarct leukoencephalopathy (CADASIL) is the most common form of hereditary stroke caused by a mutation in the NOTCH3 gene located on the short arm of chromosome 19. A… read more here.
Keywords: cadasil; treatment; case; multiple sclerosis ... See more keywords