Results 51 to 60 of about 6,349 (169)

Correlation Analysis of Rare NOTCH3 Gene Variants and Macrovascular Lesions

罕见病研究
ObjectiveCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoen-cephalopathy (CADASIL) is caused by NOTCH3 gene variants and is predominantly characterized by cerebral small vessel disease.
WANG You, WANG Yingjie, YAO Ming, ZHU Yicheng   +3 more
doaj   +1 more source

Experimental models of cerebral small vessel disease: Physiological constraints, translational challenges and future directions

The Journal of Physiology, Volume 604, Issue 14, Page 5671-5689, 15 July 2026.
Abstract figure legend Overview of cerebral small vessel disease (cSVD) pathophysiology and current modelling challenges. Left: clinical burden and key unresolved research questions. Right: neurovascular unit (NVU) architecture highlighting sites of cSVD pathology across arterioles, capillaries and venules, including interactions between endothelial ...
Sophie Beaumont, Tanya Singh, Luana Campos Soares, Mootaz M. Salman   +3 more
wiley   +1 more source

Preparing for CADASIL therapy [PDF]

, 2020
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most prevalent hereditary small vessel disease.
Gravesteijn, G.
core  

Differential associations of plasma biomarkers with Alzheimer's disease and small vessel disease: A multimodal imaging study

Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract INTRODUCTION We investigated how plasma biomarkers (phosphorylated tau 217 [ptau217], glial fibrillary acidic protein [GFAP], neurofilament light chain [NfL]) relate to imaging markers of small vessel disease (SVD) and Alzheimer's disease (AD), and cognition in memory clinic patients.
Anna Dewenter, Katharina Bürger, Daniel Janowitz, Melina Paulus, Brigitte Nuscher, Fabian Hirsch, Benno Gesierich, Anna Steward, Lukas Frontzkowski, Sebastian N. Roemer‐Cassiano, Zeyu Zhu, Davina Biel, Madleen Klonowski, Gloria Biechele, Sophia Stoecklein, Michael Ewers, Marco Duering, Steffen Tiedt, Matthias Brendel, Nicolai Franzmeier, for the Alzheimer's Disease Neuroimaging Initiative (ADNI)   +20 more
wiley   +1 more source

The psychological experience of living at risk of an autosomal dominant neurological condition: A scoping review

Alzheimer's &Dementia: Behavior &Socioeconomics of Aging, Volume 2, Issue 2, June 2026.
Abstract As our understanding of genetic risk and the availability of genetic testing increases, consideration of the psychological impact of living at risk for an autosomal dominant neurological condition (ADNC) becomes more pertinent. A systematic search of PsycINFO, MEDLINE, and Web of Science was run to identify studies exploring the psychological ...
Rhianna Brien, Simon Mead, Marc Tibber, Edgar Chan   +3 more
wiley   +1 more source

CADASIL spowodowany stereotypową mutacją p.Arg207Cys w genie NOTCH3

, 2018
Najczęstszą genetycznie uwarunkowaną chorobą małych naczyń związaną z udarami i naczyniopochodnym otępieniem jest mózgowa autosomalna dominująca arteriopatia z podkorowymi zawałami i leukoencefalopatią (cerebral autosomal dominant arteriopathy with ...
Magdalena Obrembska, Łukasz Kępczyński, Karol Jastrzębski, Andrzej Głąbiński, Katarzyna Turoboś, Elżbieta Miller, Agnieszka Sobczyńska-Tomaszewska   +6 more
core   +1 more source

Mouse model of CADASIL reveals novel insights into Notch3 function in adult hippocampal neurogenesis

Neurobiology of Disease, 2015
Could impaired adult hippocampal neurogenesis be a relevant mechanism underlying CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)? Memory symptoms in CADASIL, the most common hereditary form of vascular
Fanny Ehret, Steffen Vogler, Sherin Pojar, David A. Elliott, Frank Bradke, Barbara Steiner, Gerd Kempermann   +6 more
doaj   +1 more source

Nanoparticles in Vascular Dementia: Advantages and Challenges

CNS Neuroscience &Therapeutics, Volume 32, Issue 6, June 2026.
This review highlights the dual diagnostic and therapeutic potential of nanomaterials in Vascular Dementia (VaD). By effectively crossing the blood–brain barrier, functionalized nanoparticles facilitate early diagnosis by targeting Aβ deposits and vascular lesions.
Xianxin Liu, JiaLi Hu, Yueming qiu, Huaying Wang, Chunxiao Shen, Ziying Liu, Yiting He, Xuefei Du, Xiaorong Zhang   +8 more
wiley   +1 more source

Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.

PLoS ONE, 2015
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is originally featured with a strong clustering of mutations in NOTCH3 exons 3-6 and leukoencephalopathy with frequent anterior temporal pole involvement.
Yi-Chu Liao, Cheng-Tsung Hsiao, Jong-Ling Fuh, Chang-Ming Chern, Wei-Ju Lee, Yuh-Cherng Guo, Shuu-Jiun Wang, I-Hui Lee, Yo-Tsen Liu, Yen-Feng Wang, Feng-Chi Chang, Ming-Hung Chang, Bing-Wen Soong, Yi-Chung Lee   +13 more
doaj   +1 more source

More than lacunes and leukoencephalopathy: A hemorrhagic stroke in CADASIL

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   +1 more source