Background: Positive susceptibility vessel sign (SVS) in patients with acute ischaemic stroke has been associated with friable red blood cell-rich clots and more effective recanalisation using stent retrievers versus contact aspiration. We compared the safety and efficacy of stent retrievers plus contact aspiration (combined technique) versus contact aspiration alone as the first-line thrombectomy technique in patients with acute ischaemic anterior circulation stroke and SVS-positive occlusions.
Methods: Adaptive Endovascular Strategy to the Clot MRI in Large Intracranial Vessel Occlusion (VECTOR) was a prospective, randomised, open-label study with blinded evaluation.
Background: SCA27B caused by FGF14 intronic heterozygous GAA expansions with at least 250 repeats accounts for 10-60% of cases with unresolved cerebellar ataxia. We aimed to assess the size and frequency of FGF14 expanded alleles in individuals with cerebellar ataxia as compared with controls and to characterize genetic and clinical variability.
Methods: We sized this repeat in 1876 individuals from France sampled for research purposes in this cross-sectional study: 845 index cases with cerebellar ataxia and 324 affected relatives, 475 controls, as well as 119 cases with spastic paraplegia, and 113 with familial essential tremor.
Background: The Alberta Stroke Program Early CT scan Score (ASPECTS) is a reliable imaging biomarker of infarct extent on admission but the value of 24-hour ASPECTS evolution in day-to-day practice is not well studied, especially after successful reperfusion. We aimed to assess the association between ASPECTS evolution after successful reperfusion with functional and safety outcomes, as well as to identify the predictors of ASPECTS evolution.
Methods: We used data from an ongoing prospective multicenter registry.
Purpose: In this study, we describe the phenotype and genotype of the largest cohort of patients with Joubert syndrome (JS) carrying pathogenic variants on one of the most frequent causative genes, .
Methods: We selected 53 patients with pathogenic variants on , compiled and analysed their clinical, neuroimaging and genetic information and compared it to previous literature.
Results: Developmental delay (motor and language) was nearly constant but patients had normal intellectual efficiency in 74% of cases (20/27 patients) and 68% followed mainstream schooling despite learning difficulties.