Results 11 to 20 of about 10,883 (231)

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   +28 more sources

Characteristics and Long‐Term Outcome of Acute Ischemic Stroke in Patients With Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Compared With Sporadic Small Vessel Occlusion [PDF]

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) often presents as acute ischemic stroke involving cerebral perforators.
Sang Hee Ha, Jae Young Park, Sung Hee Ahn, Jun Young Chang, Chong Hyun Suh, Hyunjin Kim, Jae‐Sung Lim, Dong‐Wha Kang, Sun U. Kwon, Satoshi Saito, Bum Joon Kim   +10 more
doaj   +2 more sources

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in Argentina [PDF]

Arquivos de Neuro-Psiquiatria, 2015
CADASIL is the most common cause of hereditary stroke and vascular dementia. Published information about this disease in South America is scant. We describe clinical and demographic characteristics of 13 patients (10 families) with CADASIL from Argentina.
Maximiliano A Hawkes, Miguel Wilken, Verónica Bruno, Virginia Pujol-Lereis, Guillermo Povedano, María Saccoliti, Analia Taratuto, Sebastián F Ameriso   +7 more
doaj   +2 more sources

Active immunotherapy reduces NOTCH3 deposition in brain capillaries in a CADASIL mouse model [PDF]

EMBO Molecular Medicine, 2022
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic form of familial small vessel disease; no preventive or curative therapy is available. CADASIL is caused by mutations in the
Daniel V Oliveira, Kirsten G Coupland, Wenchao Shao, Shaobo Jin, Francesca Del Gaudio, Sailan Wang, Rhys Fox, Julie W Rutten, Johan Sandin, Henrik Zetterberg, Johan Lundkvist, Saskia AJ Lesnik Oberstein, Urban Lendahl, Helena Karlström   +13 more
doaj   +2 more sources

Peripheral neuropathy in a case with CADASIL: a case report [PDF]

BMC Neurology, 2018
Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized clinically by central nervous system dysfunctions. It is unclear whether CADASIL is involved in peripheral neuropathy.
Yusuke Sakiyama, Eiji Matsuura, Yoshimitsu Maki, Akiko Yoshimura, Masahiro Ando, Miwa Nomura, Kazuya Shinohara, Ryuji Saigo, Tomonori Nakamura, Akihiro Hashiguchi, Hiroshi Takashima   +10 more
doaj   +2 more sources

Mechanistic advances in factors influencing phenotypic variability in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a review [PDF]

Frontiers in Neurology
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic cerebral small-vessel disease caused by mutations in NOTCH3 and is the most common hereditary cerebral small-vessel disease in adults. The
Ying Zhao, YaRu Lu, FengYu Wang, YaDan Wang, YaQiong Li, RuiHua Sun, JunKui Shang, Chao Jiang, Jiewen Zhang   +8 more
doaj   +2 more sources

Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report [PDF]

BMC Neurology, 2020
Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease caused by mutations in NOTCH3 gene with remarkable phenotypic heterogeneity.
Ruojie He, Huan Li, Yiming Sun, Menglong Chen, Liang Wang, Yuling Zhu, Cheng Zhang   +6 more
doaj   +2 more sources

More than lacunes and leukoencephalopathy: A hemorrhagic stroke in CADASIL [PDF]

Radiology Case Reports
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene.
Chaimaa Jabbari, MD, Aya Laridi, MD, Ihssane Laasri, MD, Abdallah Bennasser, MD, ElMahdi Ait Belhaj, MD, Ayman El Farouki, PhD, Jamal El Fenni, PhD   +6 more
doaj   +2 more sources

Study of the NOTCH3 Gene Reveals the First CADASIL Cases in Crete and a Novel Pathogenic Variant [PDF]

Brain and Behavior
Background NOTCH3 gene variants are associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Ioannis Zaganas, Ioannis Tsiverdis, Evgenia Kokosali, Ionela Litso, Minas Drakos, Irene Skoula, Alexandros Zabetakis, Lambros Mathioudakis, Vassilios Mastorodemos, Panayiotis Mitsias   +9 more
doaj   +2 more sources

Genetic and imaging features of CADASIL patients with acute ischemic stroke [PDF]

Scientific Reports
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is caused by mutations in the NOTCH3 gene, is associated with early-onset strokes.
Jae Young Park, Jeong Yun Song, Jun Young Chang, Dong-Wha Kang, Sun U. Kwon, Chong Hyun Suh, Hyunjin Kim, Jae-Sung Lim, Satoshi Saito, Sang Hee Ha, Bum Joon Kim   +10 more
doaj   +2 more sources