Results 61 to 70 of about 9,876 (239)

An unusual case of cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy with occipital lobe involvement

Annals of Indian Academy of Neurology, 2016
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant angiopathy caused by a mutation in the notch 3 gene on chromosome 19.
Bhavesh Trikamji, Mariam Thomas, Gasser Hathout, Shrikant Mishra   +3 more
doaj   +1 more source

CADASIL: case report

Dementia & Neuropsychologia, 2012
ABSTRACT Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary cerebral arteriopathy caused by mutations in the Notch-3 gene. The diagnosis is reached by skin biopsy revealing presence of granular osmiophílic material (GOM), and/or by genetic testing for Notch-3.
Silva, Julio Cesar Vasconcelos da, Gasparetto, Emerson L., Engelhardt, Eliasz   +2 more
openaire   +5 more sources

Genetic migraine disorders and the response to calcitonin gene‐related peptide antagonist treatment

Headache: The Journal of Head and Face Pain, EarlyView.
Abstract Calcitonin gene‐related peptide (CGRP) is a potent cerebral vasodilator and part of the trigeminal migraine cascade. Newer migraine therapies target CGRP signaling for both acute and preventative management of headache. In this series, we present two cases of genetic conditions, of which migraine is a key feature, responsive to CGRP antagonist
Andrea M. Kuczynski, William S. Kingston
wiley   +1 more source

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Genetic Cause of Cerebral Small Vessel Disease [PDF]

, 2010
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder of the cerebral small blood vessels caused by mutations in the Notch3 gene.
Alva, Artavanis-Tsakonas, Baudrimont, Bousser, Buffon, Chabriat, Chabriat, Chabriat, Charlton, Choi, Choi, Coto, Desmond, Dichgans, Dichgans, Dichgans, Dong, Dotti, Ebke, Forteza, Fouillade, Holtmannspotter, Ishiko, Jay Chol Choi, Joutel, Joutel, Joutel, Joutel, Joutel, Joutel, Kang, Kim, Kim, Lee, Liem, Low, Markus, Mazzei, Mellies, Miao, Miao, Monet-Lepretre, Mykkanen, O'Sullivan, Okeda, Opherk, Opherk, Peters, Peters, Razvi, Razvi, Reyes, Ringelstein, Ruchoux, Ruchoux, Ruchoux, Santa, Scheid, Singhal, Sourander, Stevens, Tikka, Tournier-Lasserve, Tuominen, Tuominen, Valenti, van den Boom, Viswanathan, Viswanathan, Viswanathan, Weller, Zicari   +71 more
core   +2 more sources

Multifocal Infarctions as Manifestation of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare small vessel disease caused by a pathogenic variant in the NOTCH3 gene. We present a unique case of acute multifocal infarcts in a 51‐year‐old female following a syncopal event, prompting investigations and a first diagnosis of ...
Spiro Menounos, Adarsh George, Ke Sun, Dandan Zhao, Lydia Ting, Daniel Guilfoyle, Katie Yin   +6 more
wiley   +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

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in Argentina

Arquivos de Neuro-Psiquiatria, 2015
CADASIL is the most common cause of hereditary stroke and vascular dementia. Published information about this disease in South America is scant. We describe clinical and demographic characteristics of 13 patients (10 families) with CADASIL from Argentina.
Maximiliano A Hawkes, Miguel Wilken, Verónica Bruno, Virginia Pujol-Lereis, Guillermo Povedano, María Saccoliti, Analia Taratuto, Sebastián F Ameriso   +7 more
doaj   +1 more source

Clinical Relevance of ‘Cap’ and ‘Track’ Development after Recent Small Subcortical Infarct

Annals of Neurology, Volume 97, Issue 5, Page 942-955, May 2025.
Objective After a recent small subcortical infarct (RSSI), some patients develop perilesional or remote hyperintensities (‘caps/tracks’) to the index infarct on T2/FLAIR MRI. However, their clinical relevance remains unclear. We investigated the clinicoradiological correlates of ‘caps/tracks’, and their impact on long‐term outcomes following RSSI ...
Yajun Cheng, Carmen Arteaga‐Reyes, Una Clancy, Daniela Jaime Garcia, Maria Del C. Valdés Hernández, Michael J. Thrippleton, Michael S. Stringer, Gordon W. Blair, Stewart Wiseman, Francesca M. Chappell, Junfang Zhang, Xiaodi Liu, Angela C.C. Jochems, Susana Muñoz Maniega, Eleni Sakka, Mark E. Bastin, Rosalind Brown, Caroline M.J. Loos, Stephen D.J. Makin, Ming Liu, Bo Wu, Fergus N. Doubal, Joanna M. Wardlaw, MSS‐2, MSS‐3 and the INVESTIGATE‐SVDs Study Group, Ian Marshall, Olivia K.L. Hamilton, Ellen Backhouse, Will Hewins, Rachel Locherty, Emilie Sleight, Alasdair G. Morgan, Cameron Manning, Iona Hamilton, Gayle Barclay, Donna McIntyre, Charlotte Jardine, Dominic Job, David Perry, Tom MacGillivray, Charlene Hamid, Martin Dichgans, Anna Kopczak, Marco Duering, Benno Gesierich, Karin Waegemann, Michael Ingrisch, Salvatore Rudilosso, Ernest Chui, Esther Janssen, Robert J van Oostenbrugge, Julie Staals, Maud van Dinther, Danielle Kerkhofs, Walter H Backes, Geert Jan Biessels, Hilde van den Brink, Laurien P Onkenhout, Tine Arts, Stanley DT Pham, Jeroen Hendrikse, Jaco JMZ Zwanenburg, Jeroen CW Siero, Alastair JS Webb   +63 more
wiley   +1 more source

CADASIL or MS? Consider “Red Flags” but Avoid a Misdiagnosis: Case Series of a Concomitant Diagnosis [PDF]

, 2022
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic autosome-dominant disease with chronic clinical course.
Buscarinu Maria Chiara, Conte Antonella, Lucchini Matteo, Mirabella Massimiliano, Morena Emanuele, Morosetti Roberta, Petrucci Simona, Ristori Giovanni, Romano Carmela, Romano Silvia, Salvetti Marco, Tartaglia Matteo   +11 more
core  

Prevalence and characteristics of migraine in CADASIL [PDF]

Cephalalgia, 2016
Background and objective Migraine with aura (MA) is a major symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We assessed the spectrum of migraine symptoms and their potential correlates in a large prospective cohort of CADASIL individuals.
Dominique Hervé, Dominique Hervé, Nassira Alili, Jérôme Mawet, Christian Opherk, Ophélia Godin, Martin Dichgans, Marco Duering, Eric Jouvent, Eric Jouvent, Hugues Chabriat, Hugues Chabriat, Stéphanie Guey   +12 more
openaire   +4 more sources