Results 71 to 80 of about 3,724 (147)

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

CADASIL Registry in East Asia (CADREA): Protocol for an international prospective cohort study

Cerebral Circulation - Cognition and Behavior
Introduction: Recent advancements in genomic research have revealed that 9 individuals per 1,000 population in East Asia and 3.4 individuals per 1,000 population worldwide carry cysteine-altering NOTCH3 variants in the epidermal growth factor-like repeat
Satoshi Saito, Soichiro Abe, Kunihiro Nishimura, Toshiki Mizuno, Osamu Onodera, Sung-Chun Tang, Yi-Chung Lee, Jay Chol Choi, Masafumi Ihara   +8 more
doaj   +1 more source

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
doaj   +1 more source

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

Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy – CADASIL

Clinical and Biomedical Research, 2017
We report here neuroimaging findings of a  41 years-old female with molecular diagnosis of CADASIL (Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy).
Rosane Brondani, Andrea Garcia Almeida, Vicenzo Zarpellon de Araújo, Larissa Bianchin, Suelen Mandelli Mota, Bárbara Reis Krammer, Martina Camerini Marafon, Eduardo de Carvalho Mazzocato, Marino Muxfeldt Bianchin   +8 more
doaj  

CADASIL

Swiss Medical Weekly, 2007
openaire   +3 more sources

CADASIL

FMC - Formación Médica Continuada en Atención Primaria, 2017
Jorge Sánchez-Tembleque Sánchez, Susana Duce Tello, Alejandro García García, Irina Salvador Salvador, Belén Arellano Borreguero   +4 more
openaire   +2 more sources

Early Onset, High Comorbidity Burden, and Regional Disparities of CADASIL: A Nationwide Cohort Study in South Korea. [PDF]

J Clin Neurol
Lee JY, Lee M, Lim JS, Oh MS, Yu KH, Kim YE, Ma HI, Kim YJ, Park JH, Jung YH.   +9 more
europepmc   +1 more source

Early Stroke in a Young Male: Could it be Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)? [PDF]

Cureus
Raj A, Ali S, Imran M, Chaman Lal K.
europepmc   +1 more source

Defining patient-reported outcomes and priorities for clinical trials in CADASIL through an international survey. [PDF]

Cereb Circ Cogn Behav
Karvelas N, Connor S, Burroso A, Coale K, Lemos Duarte M, Xiong Y, Ncube L, Kunney C, Banerjee D, Kennedy M, McDaniels S, de Lencastre P, Gunther J, Kasiske B, Elahi FM.   +14 more
europepmc   +1 more source