Duplication de la lamine B1 (implication dans le diagnostic des leucodystrophies de l'adulte)

Les leucodystrophies dominantes de l'adulte avec duplication de la lamine B1 sont de description récente. Il s'agit d'une maladie rare, s'exprimant vers la cinquième décade, caractérisée par la triade clinique associant paraparésie spastique, ataxie et dysautonomie. Un tremblement intentionnel et une atteinte cognitive de type sous-cortico-frontal s'y associent volontiers. L'évolution se fait vers un état grabataire puis le décès en une vingtaine d'années. La leucopathie est généralement étendue avec un gradient antéro-postérieur. Les lésions IRM fortement évocatrices sont caractérisées par une atteinte des faisceaux cortico-spinaux s'étendant au tronc cérébral et une atteinte marquée des pédoncules cérébelleux moyens. Nous rapportons trois familles françaises indépendantes avec au total cinq patients porteurs de la duplication de LMNB1. Il semble se dessiner deux groupes de patients. Le premier groupe est caractérisé par une présentation typique avec ataxie et dysautonomie et un aspect de leucodystrophie à l'imagerie mais surtout la co-ségrégation du phénotype et de la duplication chez les apparentés. Dans le second groupe, les sujets répondent aux critères cliniques, biologiques et lRM de sclérose en plaque mais seul un sujet est porteur de la duplication, les apparentés ne sont pas mutés, faisant poser la question du rôle de LMNB1 dans ces phénotypes.MONTPELLIER-BU Médecine UPM (341722108) / SudocMONTPELLIER-BU Médecine (341722104) / SudocSudocFranceF

Radiologically Isolated Cerebral Amyloid Angiopathy-Related Inflammation

International audienceIn amyloid β-related angiitis of the central nervous system (also called cerebral amyloid angiopathy-related inflammation), cerebral amyloid angiopathy occurs in association with primary vasculitis of small- and medium-sized leptomeningeal and cortical arteries. To avoid brain biopsy, clinicoradiological criteria (including clinical features due to inflammation-related uni/multifocal white matter hyperintensities) for the diagnosis of cerebral amyloid angiopathy-related inflammation have been validated recently. We report 3 cases with acute symptoms directly related to cerebral amyloid angiopathy in the presence of asymptomatic cerebral amyloid angiopathy-related inflammation hyperintensities on initial magnetic resonance imaging. Recognizing radiological features of cerebral amyloid angiopathy-related inflammation in patients with cerebral amyloid angiopathy is important because radiological isolated cerebral amyloid angiopathy-related inflammation may become symptomatic and immunosuppressive treatment is often effective in cerebral amyloid angiopathy-related inflammation, although optimal treatment regimen is yet unknown. In contrast, apart from hypertension treatment, few therapeutic options exist in cerebral amyloid angiopathy

Vicinity of FLAIR Hyperintensities and SWI Microbleeds in Cerebral Amyloid Angiopathy-Related Inflammation

International audienc

Monocentric Prospective Study into the Sustained Effect of Incobotulinumtoxin A (XEOMIN®) Botulinum Toxin in Chronic Refractory Migraine

Refractory chronic migraine is a disabling disorder impacting quality of life. BOTOX® (Onabotulinumtoxin A) is approved as a prophylactic treatment of chronic migraine in patients unresponsive to at least three prior preventive treatments. The objective of this study was to determine the prophylactic effect of 145 U XEOMIN® (Incobotulinumtoxin A) injected at 31 specific sites in adult patients with refractory chronic migraine. Sixty-one patients (8 men and 53 women, mean age 50) with migraine were recruited, including 20 patients with isolated chronic migraine, 18 patients with chronic migraine associating tension-type headache, 12 patients with migraine associating medication overuse headache, and 11 patients with episodic disabling migraine. The mean number of injections and duration of treatment per patient was 3.5 (range 2–13) and 21 (6–68) months, respectively. From baseline to first injection, 44 patients (73%) had >50% reduction in frequency of migraine episodes, 29 patients (48%) showed >50% reduction in number of headache days, and 28 patients (46%) had a >50% reduction in drug intake. Stable response for all three parameters was observed after the last injection. XEOMIN® thus seems to represent an effective and sustained prophylactic treatment of chronic migraine

Chronic Small Cortical Cerebellar Infarctions on MRI are Associated with Patent Foramen Ovale in Young Cryptogenic Stroke

International audienceBackground: In acute infarction patients, small cortical cerebellar infarctions (SCCI) on MRI (assessed on diffusion-weighted imaging, with SCCI often chronic and asymptomatic) are associated with acute cardioembolic infarction. In young cryptogenic stroke patients, patent foramen ovale (PFO) is thought to be a potential source of cardioembolic infarction. We hypothesize that SCCI on MRI would be associated with PFO in young cryptogenic stroke patients. Methods: A total of 321 consecutive young (≤50 years) stroke patients admitted between January 2015 and July 2019 were screened. Of these patients, 287 patients had diagnostic work-up including early-phase MRI, intra- and extracranial vessel imaging, contrast transoesophageal or contrast transthoracic echocardiography, and ≥24 h ECG-monitoring. We retrospectively analyzed MRI scans of the 112 patients with cryptogenic stroke, including 63 with and 49 without PFO. Between both groups, we compared baseline characteristics (including cardiovascular risk factors and history of stroke), MRI characteristics of acute symptomatic infarction (cortical/subcortical localization, arterial territory, lesion number, and lesion size in case of subcortical infarction), atrial septum aneurysm (ASA) presence, and acute and chronic SCCI and non-SCCI lesions assessed on diffusion-weighted imaging. Results: Groups with and without PFO were comparable in regard to performed vessel imaging and echocardiography modalities, baseline characteristics, and acute infarction characteristics, except for more frequent current smoking (67 vs. 44%, p = 0.022) and multiterritorial infarction (14 vs. 0%, p = 0.0024) and less frequent ASA (10 vs. 48%, p 6 in 76% of patients with PFO. SCCI was more frequent in patients with than without PFO (33 vs. 10%, p = 0.0061; OR 4.4, 95% CI 1.5–12.7), with chronic and asymptomatic SCCI in the vast majority of cases. No difference was observed for non-SCCI lesions. Conclusions: Chronic SCCI are strongly associated with PFO in young cryptogenic stroke patients. Clinical Trial Registration-URL: http://www.clinicaltrials.gov. Unique identifier: NCT04043559

3D printing and modelling of customized implants and surgical guides for non-human primates

Background: Primate neurobiologists use chronically implanted devices such as pedestals for head stabilization and chambers to gain access to the brain and study its activity. Such implants are skull-mounted, and made from a hard, durable material, such as titanium. New method: Here, we present a low-cost method of creating customized 3D-printed cranial implants that are tailored to the anatomy of individual animals. We performed pre-surgical computed tomography (CT) and magnetic resonance (MR) scans to generate three-dimensional (3D) models of the skull and brain. We then used 3D modelling software to design implantable head posts, chambers, and a pedestal anchorage base, as well as craniotomy guides to aid us during surgery. Prototypes were made from plastic or resin, while implants were 3D-printed in titanium. The implants underwent post-processing and received a coating of osteocompatible material to promote bone integration. Results: Their tailored fit greatly facilitated surgical implantation, and eliminated the gap between the implant and the bone. To date, our implants remain robust and well-integrated with the skull. Comparison with existing method(s): Commercial-off-the-shelf solutions typically come with a uniform, flat base, preventing them from sitting flush against the curved surface of the skull. This leaves gaps for fluid and tissue ingress, increasing the risk of microbial infection and tissue inflammation, as well as implant loss. Conclusions: The use of 3D printing technology enabled us to quickly and affordably create unique, complex designs, avoiding the constraints levied by traditional production methods, thereby boosting experimental success and improving the wellbeing of the animals. (C) 2017 The Author(s). Published by Elsevier B.

Cerebrospinal Fluid Alzheimer’s Disease Biomarkers in Cerebral Amyloid Angiopathy-Related Inflammation

International audienc

Cerebrospinal Fluid, MRI, and Florbetaben-PET in Cerebral Amyloid Angiopathy-Related Inflammation

International audienc