Results 71 to 80 of about 9,876 (239)

The first report of CADASIL in Peru: Olfactory dysfunction on initial presentation

eNeurologicalSci, 2016
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare, heritable, small vessel vascular disease caused by mutations in the Notch3 gene that is characterized by migraines, subcortical vascular ...
Anastasia Vishnevetsky, Miguel Inca-Martinez, Karina Milla-Neyra, Danny Moises Barrientos-Iman, Ivan Cornejo-Herrera, Carlos Cosentino, Mario Cornejo-Olivas   +6 more
doaj  

Latent NOTCH3 epitopes unmasked in CADASIL and regulated by protein redox state [PDF]

, 2014
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy CADASIL is caused by more than a hundred NOTCH3 mutations. Virtually all encoded mutant proteins contain an odd number of cysteines. As such, structural changes in
Geschwind, Michael D., Josephson, David A., Lee, Soo Jung, Wang, Michael M., Young, Kelly Z., Zhang, Xiaojie   +5 more
core   +1 more source

CADASIL: Klinik-Genetik Korelasyon

OSMANGAZİ JOURNAL OF MEDICINE, 2021
CADASIL (Cerebral Autosomal Dominant Arteriopati, Subcortical Infarcts, Leukoencephalopathy) 19. kromozomun kisa kolunda lokalize Notch3 gen mutasyonu sonucu gelisen otozomal dominant gecisli ailesel kucuk damar hastaligidir. Klinik olarak tekrarlayan inme ataklari, migren veya migrenoz basagrilari, epileptik nobetler ve progresif kognitif bozukluk ile
DEMİR, Turgay, İŞCAN, Dilek, KOÇ, Filiz, BİŞGİN, Atıl   +3 more
openaire   +3 more sources

Deciding on genetic testing for familial dementia: Perspectives of patients and families

Alzheimer's &Dementia, Volume 21, Issue 4, April 2025.
Abstract INTRODUCTION We explored patients’ and families’ interest in, predictors of, and considerations regarding genetic testing for monogenic causes of dementia in a diagnostic setting. METHODS This mixed‐methods study evaluated 519 consecutive Alzheimer Center Amsterdam patients for monogenic testing eligibility. Among those qualifying, differences
Jetske van der Schaar, Sven J. van der Lee, Eva C. A. Asscher, Yolande A. L. Pijnenburg, Christa M. de Geus, Annelien L. Bredenoord, Wiesje M. van der Flier, Mariette A. van den Hoven, Ellen M. A. Smets, Leonie N. C. Visser   +9 more
wiley   +1 more source

Ischemic Stroke in a Patient with Stable CADASIL during COVID-19: A Case Report

Brain Sciences, 2021
Background: SARS-CoV-2 infection has been associated with different neurological conditions such as Guillain-Barré, encephalitis and stroke. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an ...
Alessandro Cruciani, Fabio Pilato, Mariagrazia Rossi, Francesco Motolese, Vincenzo Di Lazzaro, Fioravante Capone   +5 more
doaj   +1 more source

Vascular neurocognitive disorders and the vascular risk factors [PDF]

, 2018
Dementias are clinical neurodegenerative diseases characterized by permanent and progressive transformation of cognitive functions such as memory, learning capacity, attention, thinking, language, passing judgments, calculation or orientation.
Albu, Carmen V., Albulescu, Dana M., Boldeanu, Mihail V., Bumbea, Ana M., Enescu, Anca S., Enescu, Aurelia, Padureanu, Vlad, Silosi, Cristian A.   +7 more
core   +4 more sources

Cognitive implications and associated transcriptomic signatures of distinct regional iron depositions in cerebral small vessel disease

Alzheimer's &Dementia, Volume 21, Issue 4, April 2025.
Abstract INTRODUCTION Regional brain iron dyshomeostasis is observed in cerebral small vessel disease (cSVD) and other neurodegeneration processes. However, its spatial patterns, cognitive impact, and underlying pathological mechanisms remain unclear. METHODS Voxel‐based analysis of quantitative susceptibility mapping (QSM) was used to detect regional ...
Youjie Wang, Chen Ye, Ruosu Pan, Biqiu Tang, Congjun Li, Junfeng Liu, Wendan Tao, Xuening Zhang, Tang Yang, Yuying Yan, Shuai Jiang, Su Lui, Bo Wu   +12 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

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

Clusterin/Apolipoprotein J immunoreactivity is associated with white matter damage in cerebral small vessel diseases [PDF]

, 2015
Aim: Brain clusterin is known to be associated with the amyloid‐β deposits in Alzheimer's disease (AD). We assessed the distribution of clusterin immunoreactivity in cerebrovascular disorders, particularly focusing on white matter changes in small vessel
Borjesson-Hanson, A, Chen, A, Craggs, L, Deramecourt, V, Hagel, C, Kalaria, RN, Kalimo, H, Kuhlenbaeumer, G, Oakley, AE, Slade, JY, Taylor, J, Viitanen, M   +11 more
core   +1 more source