Results 91 to 100 of about 6,349 (169)

伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病患者大脑中动脉闭塞血管内治疗1例并文献复习 Endovascular Treatment of Middle Cerebral Artery Occlusion in Patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Case Report and Literature Review

Zhongguo cuzhong zazhi
伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy，CADASIL）是NOTCH3基因突变所致的遗传性脑小血管病，主要病变血管为颅内小动脉，累及大脑皮质和颅内大/中动脉的报道较罕见，目前缺乏特效治疗方法。本文报道1例大脑中动脉急性闭塞成功接受血管内治疗的CADASIL病例，并结合文献进行讨论 ...
刘昱君，刘雷媛，徐炳东，韩建邦，杨冰，丁燕，杨英，孟珩，张玉生 (LIU Yujun, LIU Leiyuan, XU Bingdong, HAN Jianbang, YANG Bing, DING Yan, YANG Ying, MENG Heng, ZHANG Yusheng )
doaj   +1 more source

Three Pediatric Siblings With CADASIL

, 2022
BACKGROUND: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a congenital small vessel disease of the brain due to NOTCH3 gene mutations.
Kurjee, Nehel, Russell, Kate
core  

Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions

Clinical Parkinsonism & Related Disorders
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, characterized by recurrent strokes, cognitive decline, and psychiatric ...
Nicola Rifino, Silvia Baratta, Esteban Zacarias, Isabella Canavero, Benedetta Storti, Mario Stanziano, Emanuela Maderna, Gianluca Marucci, Franco Taroni, Anna Bersano   +9 more
doaj   +1 more source

Genetically Confirmed CADASIL in a Pediatric Patient

, 2010
A 17-year-old girl presented with migraine with prolonged aura and aura without headache. Neurologic examination was normal. Her mother, who did not have a history of migraine, developed right-face and -arm numbness at the age of 45.
Muhammad S. Hussain, Neil R. Friedman, Catalina Cleves, A. David Rothner   +3 more
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ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Cholinergic neuronal deficits in CADASIL

Background and Purpose-Previous evidence from MRI and acetylcholinesterase histochemistry suggests cholinergic fibers are affected in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Oakley AE, Keverne JS, Ziabreva I, Kalaria RN, Court JA, Low WCR   +5 more
core   +4 more sources

ePosters Virtual

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

CADASIL-mutaation korjaus potilasperäisessä solulinjassa CRISPR-emäseditorilla

, 2020
CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) on autosomaalisesti ja vallitsevasti eli dominantisti ilmenevä sairaus, joka johtaa kognitiivisten kykyjen heikentymiseen, vaskulaariseen dementiaan ja ...
Keskinen, Timo
core  

First report of a p.Cys484Tyr Notch3 mutation in a CADASIL patient with acute bilateral multiple subcortical infarcts—case report and brief review

BMC Neurology
Background CADASIL(Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)is an inherited small vessel disease caused by mutations in NOTCH3 gene.
Weili Liu, Jie Zhang, Jian Li, Shuai Jia, Yanqiang Wang, Jianhong Geng, Yaozhen Wang   +6 more
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Is migraine a common manifestation of CADASIL-Cons

The Journal of Headache and Pain
Headaches and transient neurological symptoms that bear resemblances to clinical manifestations of migraine, especially migraine with aura, are common among patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and ...
Yen-Feng Wang
doaj   +1 more source