Blood brain barrier leakage is not a consistent feature of white matter lesions in CADASIL

Autor: Rikesh M. Rajani, Julien Ratelade, Valérie Domenga-Denier, Yoshiki Hase, Hannu Kalimo, Raj N. Kalaria, Anne Joutel

Publikováno v: Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-14 (2019)

Abstract Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic paradigm of small vessel disease (SVD) caused by NOTCH3 mutations that stereotypically lead to the vascular accumulation of NOT

Externí odkaz: https://doaj.org/article/6ffdfc0c91ff45dfad7b2368eaf0bb03

Characterization of early white matter changes in CADASIL using microscopic diffusion imaging and relaxometry

Autor: David A. Barrière, Ivy Uszynski, Rikesh M. Rajani, Florian Gueniot, Valérie Domenga-Denier, Fawzi Boumezbeur, Cyril Poupon, Anne Joutel

Background and purposeCerebral small vessel diseases (SVDs) are characterized by early white matter (WM) changes, whose pathological underpinnings are yet poorly understood. CADASIL is a monogenic and archetypal SVD, providing an ideal model for inve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6d7d5c273c3d50c6ffc129835e4c5306
https://doi.org/10.1101/2023.02.27.530286

Reducing Hypermuscularization of the Transitional Segment Between Arterioles and Capillaries Protects Against Spontaneous Intracerebral Hemorrhage

Autor: Monara Kaelle Servulo Cruz Angelim, Nicholas R. Klug, Julien Ratelade, Mark T. Nelson, Valérie Domenga-Denier, Fabrice Dabertrand, Anne Joutel, Damiano Lombardi, Rustam Al-Shahi Salman, Colin Smith, Jean-Frédéric Gerbeau

Publikováno v: Circulation
Circulation, American Heart Association, 2020, 141 (25), pp.2078-2094. ⟨10.1161/CIRCULATIONAHA.119.040963⟩
Circulation, 2020, 141 (25), pp.2078-2094. ⟨10.1161/CIRCULATIONAHA.119.040963⟩
Ratelade, J, Klug, N, Lombardi, D, Cruz Angelim, MKS, Dabertrand, F, Domenga-Denier, V, Salam, RA & Nelson, M 2020, ' Reducing Hypermuscularization of the Transitional Segment Between Arterioles and Capillaries Protects Against Spontaneous Intracerebral Hemorrhage. ', Circulation . https://doi.org/10.1161/circulationaha.119.040963
Circulation, American Heart Association, 2020, Epub ahead of print. ⟨10.1161/CIRCULATIONAHA.119.040963⟩
Ratelade, J, Klug, N R, Lombardi, D, Angelim, M K S C, Dabertrand, F, Domenga-denier, V, Al-shahi Salman, R, Smith, C, Gerbeau, J, Nelson, M T & Joutel, A 2020, ' Reducing Hypermuscularization of the Transitional Segment between Arterioles and Capillaries Protects Against Spontaneous Intracerebral Hemorrhage ', Circulation . https://doi.org/10.1161/CIRCULATIONAHA.119.040963

Background: Spontaneous deep intracerebral hemorrhage (ICH) is a devastating subtype of stroke without specific treatments. It has been thought that smooth muscle cell (SMC) degeneration at the site of arteriolar wall rupture may be sufficient to cau

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d0e60f78ce286114551661d78cc8e5d

Increased Notch3 Activity Mediates Pathological Changes in Structure of Cerebral Arteries

Autor: Lamia Ghezali, Valérie Domenga-Denier, Céline Baron-Menguy, Anne Joutel, Frank M. Faraci

Publikováno v: Hypertension. 69:60-70

CADASIL (Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy), the most frequent genetic cause of stroke and vascular dementia, is caused by highly stereotyped mutations in the NOTCH3 receptor, which is predomin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e662879105439e7db2dcde1f5d505033
https://doi.org/10.1161/hypertensionaha.116.08015

CADASIL brain vessels show a HTRA1 loss-of-function profile

Autor: Christof Haffner, Andreas Zellner, Anne Joutel, Eva Scharrer, Stefan F. Lichtenthaler, Martin Dichgans, Thomas Arzberger, Chio Oka, Stephan A. Müller, Valérie Domenga-Denier

Publikováno v: Acta Neuropathologica
Acta neuropathologica 136(1), 111-125 (2018). doi:10.1007/s00401-018-1853-8

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and a phenotypically similar recessive condition (CARASIL) have emerged as important genetic model diseases for studying the molecular pathomechanism

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3aec410097e75415c28ab401380cb0f8