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Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.
TLDR
The identification of PDCD10 (programmed cell death 10) as the CCM3 gene strongly suggests that it is a new player in vascular morphogenesis and/or remodeling in cerebral cavernous malformations.
Genetics of cavernous angiomas
TLDR
Clinical and cerebral MRI data on large series of patients with a genetic form of the disease are now available and three CCM genes have been identified, giving useful information about clinical care and genetic counselling and broadened understanding of the mechanisms of this disorder.
Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas
TLDR
The data suggest the involvement of the RAP1A signal transduction pathway in vasculogenesis or angiogenesis in Cavernous angiomas families, and that CCM1, a gene whose protein product, KRIT1, interacts with R AP1A (also known as KREV1; ref. 9), a member of theRAS family of GTPases, is mutated inCCM1 families.
Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis
TLDR
The immunostaining technique is highly sensitive (96%) and specific (100%) for diagnosis of CADASIL.
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.
TLDR
The results show that certain OPA1 mutations exert a dominant negative effect responsible for multi-systemic disease, closely related to classical mitochondrial cytopathies, by a mechanism involving mtDNA instability.
Genotype-phenotype correlations in cerebral cavernous malformations patients.
TLDR
Despite similarities among the three groups, there is a significantly lower number of affected individuals in CCM3 pedigrees,CCM3 mutations may confer a higher risk for cerebral hemorrhage, particularly during childhood, and the increment of gradient-echo sequence lesions with age differs between CCM1 and CCM2 patients.
Neuromyelitis optica in France
TLDR
The demographic data provide new data on disability in patients with neuromyelitis optica, most of whom were receiving treatment, andMultivariate analysis did not reveal any predictors of a poor evolution other than a high number of MRI brain lesions at diagnosis, which were predictive of a residual visual acuity ≤1/10.
Mutations within the MGC4607 gene cause cerebral cavernous malformations.
TLDR
The identification of MGC4607 as the CCM2 gene strongly suggests that it is a new player in vascular morphogenesis, as already reported in other hamartomatous conditions, such as tuberous sclerosis or neurofibromatosis.
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification
TLDR
Mutations of PDGFRB further support the involvement of this biological pathway in IBGC pathophysiology and suggest a new idiopathic basal ganglia calcification-causing gene.
Acute fulminant demyelinating disease: a descriptive study of 60 patients.
TLDR
This study found some differences concerning the risk of evolution to clinically definite MS after a first demyelinating episode suggestive of ADEM, and proposed criteria that should now be tested in a larger, prospective cohort study.
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