Results 51 to 60 of about 3,724 (147)

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

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

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   +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

Assessing changes on large cerebral arteries in CADASIL: Preliminary insights from a case-control analysis

Journal of Stroke and Cerebrovascular Diseases
Introduction: Parent large brain arteries are intimately related to their offspring's small arteries. Whether the CADASIL phenotype is confined to small vessels is unclear, and the involvement of large arteries in CADASIL has not been systematically ...
Edgar R. Lopez-Navarro, MD, Silvia V. Mayer, MD, Brenno R. Barreto, MD, Kevin H. Strobino, MPH, Antonio Spagnolo-Allende, MD, Pedro G. Bueno, MD, Kursat Gurel, MD, Khrystyna Kozii, MD, Salwa Rahman, MD, Farid Khasiyev, MD, Jane S. Paulsen, PhD, Jose Gutierrez, MD, MPH   +11 more
doaj   +1 more source

Peripheral neuropathy in a case with CADASIL: a case report

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   +1 more source

Genetic and Clinical Characteristics of Chinese Adult Patients With Krabbe Disease

CNS Neuroscience &Therapeutics, Volume 31, Issue 12, December 2025.
This study presents a comprehensive analysis of the genetic and clinical spectrum of Krabbe disease in a Chinese cohort, with a particular focus on adult‐onset cases. We identified 11 GALC variants, including the novel mutation p.P340L, and provided functional evidence supporting its pathogenicity through impaired protein processing, mislocalization ...
Yi Zhang, Hui‐Fen Huang, Juan‐Juan Xie, Wang Ni, Hao Yu, Zhi‐Ying Wu   +5 more
wiley   +1 more source

A Report of Accelerated Coronary Artery Disease Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Case Reports in Cardiology, 2015
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common heritable form of vascular dementia and it is caused by mutations in the NOTCH3 gene.
Courtney B. Rubin, Virginia Hahn, Taisei Kobayashi, Andrew Litwack   +3 more
doaj   +1 more source

Apathy in Cerebral Small Vessel Disease Stroke Is a Predictor of Quality of Life, Mood and Distress in Both Patients and Carers

International Journal of Geriatric Psychiatry, Volume 40, Issue 12, December 2025.
ABSTRACT Objective Apathy occurs in one‐third of patients after stroke and is particularly common in small vessel disease (SVD) stroke. Apathy is known to be associated with reduced ability to engage in everyday life activities, including neurorehabilitation.
Oriane E. Marguet, Claudia Pallucca, Robin Morris, Hugh S. Markus   +3 more
wiley   +1 more source

Association between ischemic stroke, hemorrhagic stroke, dementia, and rs201118034 among general Taiwanese population

Alzheimer's &Dementia, Volume 21, Issue 11, November 2025.
Abstract INTRODUCTION We investigated the association between the NOTCH3 rs201118034 variant and the risk of ischemic stroke, hemorrhagic stroke, and dementia within a Taiwanese population. METHODS Data from 114,233 individuals enrolled in the Taiwan Biobank were analyzed, integrating clinical diagnoses from the National Health Insurance Research ...
Yi‐Chia Liaw, Che‐Hong Chen, Shu‐Yi Hsu, Yi‐Ching Liaw, Yung‐Po Liaw   +4 more
wiley   +1 more source

CADASIL

, 2012
Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarctions and leukoencephalopathy CADASIL is a single gene disorder of the cerebral small blood vessels caused by mutations in NOTCH3 gene. The disease has been recently described and the exact prevalence is unknown currently, but the number of the reported cases is increasing as
  +5 more sources