Results 1 to 10 of about 9,876 (239)

Is the oxidant/antioxidant status altered in CADASIL patients? [PDF]

PLoS ONE, 2013
The altered aggregation of proteins in non-native conformation is associated with endoplasmic reticulum derangements, mitochondrial dysfunction and excessive production of reactive oxygen species. Cerebral autosomal dominant arteriopathy with subcortical
Jonica Campolo, Renata De Maria, Caterina Mariotti, Chiara Tomasello, Marina Parolini, Marina Frontali, Domenico Inzitari, Raffaella Valenti, Antonio Federico, Franco Taroni, Oberdan Parodi   +10 more
doaj   +5 more sources

The Pathobiology of Cerebrovascular Lesions in CADASIL Small Vessel Disease. [PDF]

Basic Clin Pharmacol Toxicol
ABSTRACT Cerebral small vessel disease (cSVD) is a significant global health issue, accounting for approximately 25% of ischemic strokes and 20% of all dementia cases. CADASIL, the most common monogenic form of cSVD, is caused by stereotyped mutations in the NOTCH3 receptor that alter the number of cysteine residues in its extracellular domain ...
Joutel A.
europepmc   +2 more sources

Identification of a known mutation in Notch 3 in familiar CADASIL in China. [PDF]

PLoS ONE, 2012
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease leading to recurrent ischemic stroke and vascular dementia.
Zhen-Xuan Tan, Fei-Feng Li, You-Yang Qu, Ji Liu, Gui-Rong Liu, Jin Zhou, Yu-Lan Zhu, Shu-Lin Liu   +7 more
doaj   +6 more sources

Lifelong cerebrovascular disease burden among CADASIL patients: analysis from a global health research network [PDF]

Frontiers in Neurology, 2023
IntroductionData reporting on patients with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) within the United States population is limited.
Alan P. Pan, Thomas Potter, Abdulaziz Bako, Jonika Tannous, Sudha Seshadri, Louise D. McCullough, Farhaan S. Vahidy, Farhaan S. Vahidy, Farhaan S. Vahidy   +8 more
doaj   +3 more sources

Reduced myelin contributes to cognitive impairment in patients with monogenic small vessel disease [PDF]

Alzheimers Dement
Abstract INTRODUCTION Myelin is pivotal for signal transfer and thus cognition. Cerebral small vessel disease (cSVD) is primarily associated with white matter (WM) lesions and diffusion changes; however, myelin alterations and related cognitive impairments in cSVD remain unclear.
Denecke J, Dewenter A, Lee J, Franzmeier N, Valentim C, Kopczak A, Dichgans M, Pirpamer L, Gesierich B, Duering M, Ewers M.   +10 more
europepmc   +2 more sources

PET Beta-Amyloid Tracer Uptake in Leukoencephalopathies: Comparing Metachromatic Leukodystrophy and CADASIL. [PDF]

Eur J Neurol
European Journal of Neurology, Volume 32, Issue 4, April 2025.
Benzoni C, Moscatelli M, Bersano A, Del Sole A, Salsano E.   +4 more
europepmc   +2 more sources

CADASIL and CARASIL [PDF]

Brain Pathology, 2014
Peer ...
Baumann, Marc, Cognat, Emmanuel, Fukutake, Toshio, Joutel, Anne, Kalimo, Hannu, Myllykangas, Liisa, Pasanen, Petra, Poyhonen, Minna, Siitonen, Maija, Tikka, Saara, Viitanen, Matti   +10 more
core   +8 more sources

Is migraine a common manifestation of CADASIL? Arguments Pros [PDF]

The Journal of Headache and Pain
Background Migraine with aura (MA) is a hallmark feature of CADASIL, a hereditary small-vessel disease caused by NOTCH3 mutations. While MA is prevalent in CADASIL, its underlying mechanisms remain unclear, and the links observed can be questioned or ...
Hugues Chabriat
doaj   +2 more sources

Intracerebral Hemorrhage in Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts and Leukoencephalopathy. [PDF]

Eur J Neurol
ABSTRACT Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease (CSVD). Intracerebral hemorrhage (ICH) is reported to be increasing in CADASIL patients from areas where the p.R544C mutation is prevalent (e.g., Jeju and Chinese Taiwan ...
Hu F, Xie W, Fan M, Wang Y, Xu S, Qiu W, Yang T, Lv H, Huang H, Wu Y, Fu Y, Cai B.   +11 more
europepmc   +2 more sources

NIHSS Scores in Ischemic Small Vessel Disease: A Study in CADASIL [PDF]

, 2012
Background: The National Institutes of Health Stroke Scale (NIHSS) is widely used to measure neurological deficits, evaluate the effectiveness of treatment and predict outcome in acute ischemic stroke.
Allili, Nassira, Chabriat, Hugues, Dichgans, Martin, Duering, Marco, Herve, Dominique, Jouvent, Eric, Yao, Ming   +6 more
core   +2 more sources