Moyamoya Angiopathy and Antiphospholipid Antibodies: A Coincidental Association?

Background: The presence of antiphospholipid antibodies (aPL) has been suggested as a potential cause of moyamoya angiopathy (MMA), but this remains uncertain. In this case-control study, we aimed to compare the prevalence of circulating aPL in patients with MMA and in non-MMA cerebrovascular controls.

Methods: For comparison, we included 95 patients with MMA from the French National Referral Centre for this condition and 182 age- and sex-matched non-MMA controls with a different cerebrovascular disease, all younger than 55 years.

MRI-Proven Incident Ischemia: A New Marker of Disease Progression in Small Vessel Diseases.

Background: In ischemic cerebral small vessel diseases (cSVD), recurrent ischemic stroke is rare (2%-3% per year). Because acute ischemia may not always lead to stroke in cSVD due to the small size of lesions, acute stroke may not reliably reflect ischemic activity or the risk of further clinical worsening, as both incident lacunes and incidental diffusion-weighted imaging-positive lesions can occur without stroke symptoms. We aimed to evaluate the total ischemic activity by measuring the incidence of magnetic resonance imaging (MRI)-proven incident ischemia, independent of the presence of stroke symptoms in a large cohort of cSVD.

Segmentation of incident lacunes during the course of ischemic cerebral small vessel diseases.

Background: Lacunes represent key imaging markers of cerebral small vessel diseases (cSVDs). During their progression, incident lacunes are related to stroke manifestations and contribute to progressive cognitive and/or motor decline. Assessing new lesions has become crucial but remains time-consuming and error-prone, even for an expert.

White Matter Hyperintensities of the Corpus Callosum Are Associated With Clinical Severity in CADASIL.

Background: In CADASIL (Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy), clinical severity is not related to the total burden of white matter hyperintensities (WMHs), presumably because of heterogeneous underlying tissue alterations. We aimed to investigate whether WMHs in the corpus callosum (WMH) are due to secondary degeneration and related to clinical severity.

Methods: We evaluated data from 228 CADASIL patients included in an ongoing prospective cohort with available 3-dimensional fluid-attenuated inversion recovery magnetic resonance imaging sequences.

Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factors.

The recent discovery that the prevalence of cysteine mutations in the NOTCH3 gene responsible for CADASIL was more than 100 times higher in the general population than that estimated in patients highlighted that the mutation location in EGFr-like-domains of the NOTCH3 receptor could have a major effect on the phenotype of the disease. The exact impact of such mutations locations on the multiple facets of the disease has not been fully evaluated. We aimed to describe the phenotypic spectrum of a large population of CADASIL patients and to investigate how this mutation location influenced various clinical and imaging features of the disease.