Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.

Background: Mitochondrial membrane protein-associated neurodegeneration (MPAN) is caused by mutations in the C19orf12 gene. MPAN typically appears in the first two decades of life and presents with progressive dystonia-parkinsonism, lower motor neuron signs, optic atrophy, and abnormal iron deposits predominantly in the basal ganglia. MPAN, initially considered as a strictly autosomal recessive disease (AR), turned out to be also dominantly inherited (AD).

Etiologic and prognostic value of external carotid artery thrombus detection during endovascular therapy for anterior circulation proximal occlusions.

Background And Purpose: An early understanding of stroke mechanism may improve treatment and outcome in patients presenting with large vessel occlusion stroke (LVOS) treated with mechanical thrombectomy (MT). We aimed to investigate whether spontaneous external carotid artery (ECA) embolism detection during MT is associated with stroke etiology and clinical outcome.

Methods: We retrospectively reviewed our prospectively maintained institutional database including consecutive patients with anterior circulation LVOS treated with MT between January 2015 and August 2020.

Descriptive Epidemiology of Ependymal Tumors in Gironde, France: Results from the Gironde Registry for the 2000-2018 Period.

Background: The Gironde Central Nervous System (CNS) Tumor Registry, in collaboration with the French National Cancer Institute, is the largest population-based registry focused exclusively on primary CNS tumors in France and represents a population of 1.62 million. This report focuses on ependymal tumors to refine current knowledge and provide up-to-date data on the epidemiology of these rare tumors.

ASCOD Phenotyping of Stroke With Anterior Large Vessel Occlusion Treated by Mechanical Thrombectomy.

Background And Purpose: Determining the mechanism of large vessel occlusion related acute ischemic stroke is of major importance to initiate a tailored secondary prevention strategy. We investigated using the atherosclerosis, small vessel disease, cardiac source, other cause, dissection (ASCOD) classification the distribution of the causes of large vessel occlusion related acute ischemic stroke treated by mechanical thrombectomy.

Methods: This was a predefined substudy of the FRAME (French Acute Multimodal Imaging to Select Patient for Mechanical Thrombectomy).

Perfusion Imaging and Clinical Outcome in Acute Ischemic Stroke with Large Core.

Objective: Mechanical thrombectomy (MT) is not recommended for acute stroke with large vessel occlusion (LVO) and a large volume of irreversibly injured tissue ("core"). Perfusion imaging may identify a subset of patients with large core who benefit from MT.

Methods: We compared two cohorts of LVO-related patients with large core (>50 ml on diffusion-weighted-imaging or CT-perfusion using RAPID), available perfusion imaging, and treated within 6 hours from onset by either MT + Best Medical Management (BMM) in one prospective study, or BMM alone in the pre-MT era from a prospective registry.

Mismatch Profile Influences Outcome After Mechanical Thrombectomy.

Background And Purpose: Mechanical thrombectomy (MT) is the recommended treatment for acute ischemic stroke caused by anterior circulation large vessel occlusion. However, despite a high rate of reperfusion, the clinical response to successful MT remains highly variable in the early time window where optimal imaging selection criteria have not been established. We hypothesize that the baseline perfusion imaging profile may help forecast the clinical response to MT in this setting.

Safety and efficacy of the Silk flow diverter: Insight from the DIVERSION prospective cohort study.

Background And Purpose: Flow diverters are considered as an essential tool in the stent-based treatment of complex intracranial aneurysms. We report here a subgroup analysis of the nationwide prospective DIVERSION study to investigate the safety and efficacy of the Silk flow diverter at 12 months follow-up.

Methods: We performed a subgroup analysis of patients included in the DIVERSION, a national prospective cohort study including all flow diverters placement between 2012 and 2014 in France, and treated with the Silk.

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.

The CACNA1A gene encodes a calcium-dependent voltage channel, localized in neuronal cells. Pathogenic variants in this gene are known to lead to a broad clinical spectrum including episodic ataxia type 2, spinocerebellar ataxia type 6, familial hemiplegic migraine, and more recently epileptic encephalopathy. We report a large family revealing a wide variability of neurological manifestations associated with a CACNA1A missense pathogenic variant.

Increasing incidence of central nervous system (CNS) tumors (2000-2012): findings from a population based registry in Gironde (France).

Background: Although some countries have observed a stabilization in the incidence of CNS, an increasing incidence has been reported from multiple studies. Recent observations point out to the heterogeneity of incidence trends according to histological subtypes, gender and age-groups. Using a high-quality regional CNS tumor registry, this article describes the trends of CNS tumor incidence for main histological subtypes, including benign and malignant tumors, in the French department of Gironde from 2000 to 2012.

Normal cerebrovascular reactivity in Stroke-like Migraine Attacks after Radiation Therapy syndrome.

Stroke-like Migraine Attacks after Radiation Therapy (SMART) syndrome is a rare complication of cranial irradiation. Radiation is well-known to impair vascular vessel architecture and function. We investigated the hypothesis of radiation-induced cerebral vascular reserve dysfunction as the underlying mechanism of SMART.

Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498-499InsTC).

To describe a family with a hereditary ferritinopathy (HF) due to a mutation in the ferritin light chain gene (FTL498-499InsTC mutation). Case reports of the clinical features, MRI, (18)FDG PET, and pathological findings observed in this family with two patients described in more details. Postural tremor (phenotype-1) or cerebellar signs (phenotype-2) were the first neurological symptoms detected.

Inter- and intraobserver reliability of five MRI sequences in the evaluation of the final volume of cerebral infarct.

Purpose: To evaluate the reproducibility of fluid attenuated inversion recovery (FLAIR) and four other magnetic resonance imaging (MRI) sequences in the quantitative assessment of final cerebral infarct volume.

Materials And Methods: FLAIR, T1-3D, magnetization transfer ratio (MTR)-map, diffusion-weighted trace (DWI)-trace, and apparent diffusion coefficient (ADC)-map, were acquired and measured in 33 patients 30-45 days after onset of a first-ever ischemic stroke. The infarct area was visually detected and manually delineated two times by two readers separately after images and sequences randomization.

Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease.

Vanishing white matter (VWM) disease, also known as childhood ataxia with central nervous system hypomyelination (CACH) syndrome, is an autosomal recessive transmitted leukodystrophy. Classically characterised by early childhood onset, adult onset formed with slower progression have been recently recognized. The course of neurological impairment is usually progressive with possible occasional episodes of acute deterioration following febrile illnesses or head trauma.

Magnetization transfer imaging shows tissue abnormalities in the reversible penumbra.

Background And Purpose: In the concept of ischemic penumbra, the volume of salvaged penumbra is considered as the volume of FLAIR normalization on follow-up MRI compared with early diffusion and perfusion abnormalities. Using magnetization transfer imaging, very sensitive to macromolecular disruption, we investigated whether FLAIR normalization was a good marker for tissue full recovery.

Methods: We prospectively included 30 patients with acute middle cerebral artery stroke.

COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

Objective: Several hereditary ischemic small-vessel diseases of the brain have been reported during the last decade. Some of them have ophthalmological, mainly retinal, manifestations. Herein, we report on a family affected by vascular leukoencephalopathy and variable abnormalities of the anterior chamber of the eye.