Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study.

Baudrimont, M; Dubas, Frédéric; Joutel, Anne; Tournier-Lasserve, E.; Bousser, Marie‐Germaine

doi:10.1161/01.str.24.1.122

Cited by 258 publications

(164 citation statements)

References 9 publications

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“…This syndrome is characterised by a predisposition for stroke caused by diffuse angiopathy: the vascular damage, prevalently affecting small cerebral arteries, is situated in the vascular smooth muscle cells (VSMC), which are the only site of expression of the Notch3 gene in human adults (Joutel et al, 2000). Besides progressive degeneration of the VSMC, the vessels walls of CADASIL patients also show accumulation of a material of unknown composition presenting at electron microscope observation as a granular osmiophilic material (GOM) (Baudrimont et al, 1993).…”

Section: The Effects Of Notch Signallingmentioning

confidence: 99%

Physiology and pathology of notch signalling system

Bianchi

Dotti

Federico

2005

Journal Cellular Physiology

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Notch proteins encode a family of transmembrane receptors that are part of a signalling transduction system known as Notch signalling, an extremely conserved and widely used mechanism regulating programs governing growth, apoptosis and differentiation in metazoans. Notch signalling begins when the Notch receptor binds ligands and ends when the Notch intracellular domain enters the nucleus and activates transcription of target genes. This core pathway is subjected to a wide array of regulatory influences and protein-protein interactions and is correlated with other signalling pathway. This review will sumarize recent findings concerning the physiology and pathology of Notch signalling in vascular development and homeostasis. Moreover, the clinical phenotypes of Notch3 signalling system pathology will be described, with particular regard to CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) for which the most recent pathogenetic hypotheses are reported.

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Section: The Effects Of Notch Signallingmentioning

confidence: 99%

Physiology and pathology of notch signalling system

Bianchi

Dotti

Federico

2005

Journal Cellular Physiology

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“…Neuroimaging abnormalities such as cerebral white matter lesions (WMLs), lacunes, and microbleeds in the CADASIL patients are related to this cerebral small‐vessel histopathology 1. While CADASIL is considered a primarily ischemic form of vascular dementia, spontaneous intracerebral hemorrhage (ICH) has recently been reported in association with CADASIL,2, 3, 4, 5, 6 suggesting that the structural fragility of arterial walls may lead to ICH attacks. However, there are limited data describing the effects that the underlying structural changes related to CADASIL have on the occurrence of ICH and subsequent outcomes.…”

Section: Introductionmentioning

confidence: 99%

CADASIL: two new cases with intracerebral hemorrhage

Zhang

et al. 2017

Ann Clin Transl Neurol

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Whether cerebral autosomal‐dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a risk factor for spontaneous intracerebral hemorrhage (ICH) and influences outcomes remains unclear. In this study, we report two cases of CADASIL presenting with cerebral hemorrhages. These cases suggest that a CADASIL vasculopathy by itself mainly results in ICH, as indicated by slight vascular risk factors and prominent neuroimaging abnormalities, suggesting that CADASIL should be considered a risk factor for ICH. Interestingly, decreased perihematomal edema was noted in ICH patients with CADASIL in this study.

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“…Studies have shown that the myelin density is reduced in ageing (Ge et al, 2002;Bartzokis et al, 2003) and in disorders affecting the white matter such as multiple sclerosis (Fazekas et al, 2002;Keegan and Noseworthy, 2002), CADASIL (Baudrimont et al, 1993;Okeda et al, 2002), Binswangers disease (Roman, 1985) and vascular dementia (Wallin and Blennow, 1991).…”

Section: Introductionmentioning

confidence: 99%