Results 71 to 80 of about 8,915 (192)

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

Pathophysiology of vascular dementia [PDF]

, 2009
The concept of Vascular Dementia (VaD) has been recognized for over a century, but its definition and diagnostic criteria remain unclear.Conventional definitions identify the patients too late, miss subjects with cognitive impairment short of dementia ...
Francesco Iemolo, Giovanni Duro, Claudia Rizzo, Laura Castiglia, Vladimir Hachinski, Calogero Caruso   +5 more
core   +2 more sources

Molecular Diagnosis in a Specialised Neurogenetic Clinic With Access to Whole‐Genome Sequencing

Acta Neurologica Scandinavica, Volume 2026, Issue 1, 2026.
Background Rare diseases, collectively affecting 1 in 17 people in the United Kingdom and Ireland, require coordinated care. Specialised multidisciplinary clinics offer a streamlined approach for diagnosis and management of rare neurogenetic disorders.
Patrick B. Moloney, Nicholas W. Wood, Rob Rouhl   +2 more
wiley   +1 more source

More than lacunes and leukoencephalopathy: A hemorrhagic stroke in CADASIL

Radiology Case Reports
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene.
Chaimaa Jabbari, MD, Aya Laridi, MD, Ihssane Laasri, MD, Abdallah Bennasser, MD, ElMahdi Ait Belhaj, MD, Ayman El Farouki, PhD, Jamal El Fenni, PhD   +6 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

Translational models for vascular cognitive impairment: a review including larger species. [PDF]

, 2017
BACKGROUND: Disease models are useful for prospective studies of pathology, identification of molecular and cellular mechanisms, pre-clinical testing of interventions, and validation of clinical biomarkers.
A Bernardo, A Csiszar, A Dal-Pan, A Dreyer, A Fuso, A Joutel, A Joutel, A Kitamura, A Thiel, A Troen, AH Hainsworth, AH Hainsworth, AH Hainsworth, AH Hainsworth, AJ Wells, AM Troen, AM Troen, AM Troen, AM Troen, AP Perez-Sanchez, Aron M. Troen, Atticus H. Hainsworth, B Hallacoglu, B Nitzsche, BJ Cummings, Björn Nitzsche, BS Allen, BT Kang, C Ayata, C Iadecola, C Kilkenny, CA Oomen, Catriona Cunningham, CG Grimberg-Henrici, CH Vite, Chad Farris, CL Gibson, CL Ryan, CM McKittrick, CR Bjarkam, CW Cotman, D Gaffan, D Kaiser, DG McLaren, E Gieling, E Head, E Head, EC Henning, EL Bailey, Elizabeth Head, ET Gieling, ET Gieling, F Dabertrand, F Kuehnel, F Schmidt, FC Rioja-Lang, FE Burrows, FY Jalal, FY Jalal, G Wallays, Gary A. Rosenberg, H Chabriat, H Mahut, HL Gray-Edwards, IM Macrae, J Attems, J Boltze, J Boltze, J Weaver, JA Mattison, JB Madigan, JB Toledo, Jeremy D. Isaacs, JF Arboleda-Velasquez, JF Brittain, JK Chambers, Johannes Boltze, JT O’Brien, JT Skinner, Julie W. Rutten, JW Rutten, K Hattori, K Nishio, K Uchida, K Uchida, K Uchida, K Uchida, L Pantoni, L Rehbein, L Sironi, L Zheng, LC Walker, LS Garosi, M Fisher, M Fisher, M Mietsch, M Monet-Lepretre, M Shibata, Mark B. Moss, Masafumi Ihara, MB Moss, ME Shaul, Melita Salkovic-Petrisic, MJ Schmidt, MM Chakravarty, MM Ruchoux, MP Littman, MR Carmo, MS Conrad, MY Su, NA Terpolilli, ND Prins, NS Jiwa, P McGrath, P Moorhouse, PD Tapp, PD Tapp, PR Holland, R Datta, R Killiany, R Lalonde, Raj N. Kalaria, RN Kalaria, S Brown, S Frey, S Nakamura, S Saikali, S Terlecki, Saskia A. M. J. Lesnik Oberstein, SC Landis, SG Kohama, SH Woolf, SK Liu, Stuart M. Allan, T Freret, T Herrmann, T Ishihara, T Kemper, T Schutt, T Yoshino, TA Baskerville, TL Kemper, TL Moore, TL Sudduth, TL Sudduth, V Bernedo, V Hachinski, V Schmitt, W Hollander, WR Brown, Y Hattori, Y Okamoto, Z Tucsek   +152 more
core   +4 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

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

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

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