Results 31 to 40 of about 3,826 (158)

Energetic microdomains and the vascular control of neuronal and muscle excitability: Toward a unified model

The Journal of Physiology, EarlyView.
Abstract figure legend The capillary–mitochondria–ion channel (CMIC) axis scales structural resources to match functional workload. (Left) In settings of restricted energetic capacity (e.g. cortical neurons), sparse capillary networks and modest mitochondrial pools set a lower energetic ceiling, sufficient to support phasic, low‐workload excitability. (
L. Fernando Santana, Scott Earley
wiley   +1 more source

A heterozygous mutation in NOTCH3 in a Chinese family with CADASIL

Frontiers in Genetics, 2022
Introduction: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal-dominant systemic vascular disease that primarily involves small arteries.
Juyi Li, Tao Luo, Xiufang Wang, Mengjie Wang, Tao Zheng, Xiao Dang, Aiping Deng, Youzhi Zhang, Sheng Ding, Ping Jing, Lin Zhu   +10 more
doaj   +1 more source

Late Cognitive or Mood Alterations With ‘Status Cribrosum’ and Diffuse White Matter Lesions: A New Cerebral Small Vessel Disease Phenotype Associated With Rare COL4A1 Variants Located Within Exon 23

European Journal of Neurology, Volume 33, Issue 7, July 2026.
We report four unrelated patients carrying rare COL4A1 glycine variants encoded by exon 23 and presenting with late‐onset cognitive and/or psychiatric symptoms. Brain MRI was characterised by a severe cerebral small vessel disease with diffuse white matter hyperintensities and prominent enlargement of basal ganglia perivascular spaces leading to a ...
Hélène Morel, Sophie Dufourd‐Delalande, William Bloch, Mathilde Graber, Sacha Weber, Carla Machado, Thibault Coste, Hugues Chabriat, Elisabeth Tournier‐Lasserve, Stéphanie Guey   +9 more
wiley   +1 more source

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

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   +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

Modeling CADASIL vascular pathologies with patient-derived induced pluripotent stem cells

Protein & Cell, 2019
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary cerebrovascular disease caused by a NOTCH3 mutation.
Chen Ling, Zunpeng Liu, Moshi Song, Weiqi Zhang, Si Wang, Xiaoqian Liu, Shuai Ma, Shuhui Sun, Lina Fu, Qun Chu, Juan Carlos Izpisua Belmonte, Zhaoxia Wang, Jing Qu, Yun Yuan, Guang-Hui Liu   +14 more
doaj   +1 more source

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
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Depression in CADASIL patients [PDF]

Archives of Biological Sciences, 2014
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary neurological disease accompanied by recurrent ischemic events, characterized by the presence of psychiatric disorders.
Lačković Maja, Damjanović Aleksandar, Ivković Maja, Pantović Maja, Bajčetić Miloš, Rovčanin Branislav, Pavlović Aleksandra, Šternić Nadežda, Jašović-Gašić Miroslava   +8 more
doaj   +1 more source

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

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   +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