Results 51 to 60 of about 9,876 (239)

CADASIL Syndrome Presenting as Adjustment Disorder

İstanbul Medical Journal, 2020
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), usually referred to as CADASIL, is an inherited autosomal dominant condition that can cause stroke, dementia and other neurological impairments ...
Sevda Bağ, Pelin Özkara, Evrim Erten
doaj   +1 more source

Impaired vasoreactivity in mildly disabled CADASIL patients [PDF]

, 2011
Background and purpose CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a rare genetic disease caused by NOTCH3 gene mutations.
Campolo, J., De Maria, R., De Stefano, N., Dotti, M.T., Federico, A., Frontali, M., Inzitari, D., Mariotti, C., Pantoni, L., Parodi, O., Pescini, F., Puca, E., Romano, S., Stromillo, M.L., Taroni, F., Tavani, A., Tomasello, C.   +16 more
core   +1 more source

Effect of corticosubcortical iron deposition on dysfunction in CADASIL is mediated by white matter microstructural damage

NeuroImage: Clinical, 2023
Iron dysregulation may attenuate cognitive performance in patients with CADASIL. However, the underlying pathophysiological mechanisms remain incompletely understood. Whether white matter microstructural changes mediate these processes is largely unclear.
Xiuqin Jia, Yingying Li, Yunqing Ying, Xuejia Jia, Weijun Tang, Yueyan Bian, Jiajia Zhang, Danny J.J. Wang, Xin Cheng, Qi Yang   +9 more
doaj  

Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles. [PDF]

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

Structural MRI [PDF]

, 2011
Predictive genetic testing for a neurogenetic disorder evokes strong emotions, and may lead to distress. The aim of this study is to investigate whether attachment style and emotion regulation strategies are associated with distress in persons who ...
Mike P. Wattjes, Tzourio
core   +5 more sources

Stroke and migraine is there a possible comorbidity? [PDF]

, 2016
The association between migraine and stroke is still a dilemma for neurologists. Migraine is associated with an increased stroke risk and it is considered an independent risk factor for ischaemic stroke in a particular subgroup of patients.
Del Balzo, Francesca, Duse, Marzia, Nicita, Francesco, Occasi, Francesca, Papetti, Laura, Properzi, Enrico, Spalice, Alberto, Zicari, Anna Maria   +7 more
core   +2 more sources

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

Stroke genetics: prospects for personalized medicine. [PDF]

, 2012
Epidemiologic evidence supports a genetic predisposition to stroke. Recent advances, primarily using the genome-wide association study approach, are transforming what we know about the genetics of multifactorial stroke, and are identifying novel stroke ...
A Gschwendtner, A Hassan, A Helgadottir, A Helgadottir, A Joutel, A Viswanathan, AB Singleton, AJ Bowes, AV Shirodkar, B Rohrer, C Bellenguez, CAPRIE Steering Committee, CS Ku, D Sibbing, DF Gudbjartsson, DJ Klionsky, DK Wysowski, DL Bhatt, DR Holmes Jr, DS Budnitz, E Flossmann, G Paré, HC Diener, HS Markus, HS Markus, Hugh S Markus, J Hardy, JA Johnson, JB Olesen, JF Meschia, JL Mega, JN Hirschhorn, JT O'Brien, L Wang, M Dichgans, M Kubo, M Serizawa, MA Ikram, MV Holmes, P Jerrard-Dunne, P Kraft, P Polychronopoulos, PC Ng, RL Sacco, RS Epstein, S Bevan, S Gretarsdottir, S Gretarsdottir, S Lanfranconi, S Olsson, S Seshadri, S Seshadri, SE Nissen, The International Warfarin Pharmacogenetics Consortium, VG Manolopoulos, VL Roger   +55 more
core   +2 more sources

White matter pathology and disconnection in the frontal lobe in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [PDF]

, 2013
Background; Magnetic resonance imaging indicates diffuse white matter (WM) changes are associated with cognitive impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Burke, M, Craggs, LJL, Duering, M, Fenwick, R, Ihara, M, Kalaria, RN, Kretzschmar, H, Oakley, AE, Roeber, S, Yamamoto, Y   +9 more
core   +2 more sources

Association Between Vascular NOTCH3 Aggregation and Disease Severity in a CADASIL Cohort – Implications for NOTCH3 Variant‐Specific Disease Prediction

Annals of Neurology, EarlyView.
Objective Vascular NOTCH3 protein ectodomain aggregation is a pathological hallmark of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a monogenic small vessel disease typically caused by cysteine‐altering variants in NOTCH3.
Minne N. Cerfontaine, Gido Gravesteijn, Remco J. Hack, Kyra L. Dijkstra, Mar Rodríguez‐Girondo, Benno Gesierich, Marie‐Noëlle W. Witjes‐Ané, Remco van Doorn, Marco Duering, Julie W. Rutten, Saskia A. J. Lesnik Oberstein   +10 more
wiley   +1 more source