Results 31 to 40 of about 6,349 (169)

De novo mutation in the NOTCH3 gene causing CADASIL

Biomolecules & Biomedicine, 2014
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is one of the most common hereditary forms of stroke, and migraine with aura, mood disorders and dementia.
Dragan Stojanov, Danijela Grozdanović, Sladjana Petrović, Daniela Benedeto-Stojanov, Ivan Stefanović, Nebojša Stojanović, Dušica N. Ilić   +6 more
doaj   +1 more source

White Matter and Perivascular Imaging Changes in Alzheimer's Disease and Cerebral Amyloid Angiopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peak‐width of skeletonized mean diffusivity (PSMD) and diffusion tensor imaging–analysis along the perivascular space (DTI‐ALPS), reflecting white matter integrity and glymphatic function, are altered in Alzheimer's disease (AD).
Debina Laishram, Guangwei Du, Sangam Kanekar, Nandakumar Nagaraja   +3 more
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

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease

Clinical Genetics, EarlyView.
Whole‐exome sequencing of 111 patients with suspected familial cerebral small vessel disease (CSVD) identified novel copy number variants in four patients across NOTCH3, LMNB1, and COL4A2, using bioinformatic and molecular techniques. These validated CNVs suggest structural variation is an underrecognized potential causal contributor to monogenic CSVD ...
Solomon K. Guyler, Neven Maksemous, Rodney A. Lea, Robert A. Smith, Heidi G. Sutherland, Lyn R. Griffiths   +5 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

Framework for headache management in pediatric patients with stroke and cerebrovascular lesions: A narrative review

Headache: The Journal of Head and Face Pain, EarlyView.
Abstract Objective To present a practical, evidence‐based framework for the management of headache disorders in pediatric patients with prior stroke or underlying cerebral vascular lesions, with particular attention to safety and efficacy of pharmacologic and non‐pharmacologic therapies.
Allison C. Hyland, Samuel J. Belfer, Christine K. Fox, Samantha L. Irwin, Rachel Vassar, Ann Oh, Sruthi Ilangovan, Amy A. Gelfand   +7 more
wiley   +1 more source

Cadasil em uma família catarinense: relato de caso e revisão da literatura. [PDF]

, 2001
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Médica, Curso de Medicina, Florianópolis ...
Dach, Fabíola
core  

The pathogenesis of CADASIL: an update

, 2004
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) appears to be the most common form of hereditary stroke disorder.
Kalimo, H, Tabira, T, CADASIL, Group of Vas-Cog, Dichgans, M, Kalaria, RN, Viitanen, M,   +5 more
core   +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

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