ORCID Profile
0000-0001-6197-6275
Current Organisations
KU Leuven
,
Assistance Publique Hôpitaux de Paris
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Publisher: Elsevier BV
Date: 12-2011
DOI: 10.1016/J.NEUROBIOLAGING.2009.12.018
Abstract: In the elderly, the high prevalence of Alzheimer's disease neuropathology presents a major challenge to the investigation of memory decline in common diseases such as small vessel disease. CADASIL represents a unique clinical model to determine the spectrum of memory impairment in subcortical ischemic vascular dementia (SIVD). One hundred and forty CADASIL patients underwent detailed clinical, neuropsychological and imaging analyses. The Free and Cued Selective Reminding Test was used as a measure of verbal memory. Forty-four out of 140 CADASIL patients (31.4%) presented with memory impairment according to this test. Eight out of 44 (18.2%) subjects with memory impairment matched the definition of the amnestic syndrome of hippoc al type. While alterations in spontaneous recall were related to the severity of subcortical ischemic lesions, the profile of memory impairment, particularly the sensitivity to cueing was found related to other factors such as hippoc al atrophy.
Publisher: Elsevier BV
Date: 2019
Publisher: Elsevier BV
Date: 2011
DOI: 10.2139/SSRN.2028981
Publisher: Elsevier BV
Date: 11-2010
Publisher: S. Karger AG
Date: 2016
DOI: 10.1159/000442298
Abstract: b i Background: /i /b The pathogenesis of moyamoya disease (MMD) is still unknown. The detection of inflammatory molecules such as cytokines, chemokines and growth factors in MMD patients' biological fluids supports the hypothesis that an abnormal angiogenesis is implicated in MMD pathogenesis. However, it is unclear whether these anomalies are the consequences of the disease or rather causal factors as well as these mechanisms remain insufficient to explain the pathophysiology of MMD. The presence of a family history in about 9-15% of Asian patients, the highly variable incidence rate between different ethnic and sex groups and the age of onset support the role of genetic factors in MMD pathogenesis. However, although some genetic loci have been associated with MMD, few of them have been replicated in independent series. Recently, i RNF213 /i gene was shown to be strongly associated with MMD occurrence with a founder effect in East Asian patients. However, the mechanisms leading from i RNF213 /i mutations to MMD clinical features are still unknown. b i Summary: /i /b The research on pathogenic mechanism of MMD is in its infancy. MMD is probably a complex and heterogeneous disorder, including different phenotypes and genotypes, in which more than a single factor is implicated. b i Key Message: /i /b Since the diagnosis of MMD is rapidly increasing worldwide, the development of more efficient stratifying risk systems, including both clinical but also biological drivers became imperative to improve our ability of predict prognosis and to develop mechanism-tailored interventions.
Publisher: IEEE
Date: 02-2010
DOI: 10.1109/ICDS.2010.52
Publisher: Wiley
Date: 19-10-2016
DOI: 10.1002/ANA.24782
Abstract: Cerebral small vessel disease (cSVD) is a heterogeneous group of disorders. Screening of known cSVD genes identifies the causative mutation in % of familial cSVD cases. We sought to identify novel causes of cSVD. We used linkage analysis and exome sequencing to identify the causal mutation in a French cSVD family. The identified candidate gene was then screened in 202 cSVD unrelated probands, including 1 proband from the first reported pontine autosomal dominant microangiopathy with leukoencephalopathy (PADMAL) family. Sanger sequencing was used to confirm variants in all mutated probands and analyze their segregation in probands' relatives. Mutation consequences were assessed with luciferase reporter assays and real‐time quantitative polymerase chain reaction (RT‐qPCR). A candidate heterozygous variant located in a predicted miR‐29 microRNA binding site, within the 3′ untranslated region of COL4A1 , was identified in the large French cSVD family. Five additional unrelated probands, including the PADMAL proband, harbored heterozygous variants in this microRNA binding site. Variants cosegregated with the affected phenotype, and cumulative logarithm of odds score reached 6.03, establishing linkage to this locus. A highly significant difference was observed when comparing the number of variants within this binding site in cases and controls ( p = 1.77 × 10E‐12). RT‐qPCR analyses of patients' primary fibroblasts and luciferase reporter assays strongly favor an upregulation of COL4A1 mediated by disruption of miR‐29 binding to its target site. Magnetic resonance imaging features were characterized by the presence of multiple pontine infarcts in all symptomatic mutation carriers. Mutations upregulating COL4A1 expression lead to PADMAL, a severe early onset ischemic cSVD, distinct from the various phenotypes associated with COL4A1 missense glycine mutations. Ann Neurol 2016 :741–753
Publisher: IEEE
Date: 02-2010
DOI: 10.1109/ICDS.2010.53
Publisher: Public Library of Science (PLoS)
Date: 09-02-2016
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 29-10-2014
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for Dominique Hervé.