Revue neurologique最新文献

Background: Sexual dysfunctions are frequent in the general population and even more frequent in individuals with chronic neurological disorders like multiple sclerosis (MS). Several studies indicate that patients would like healthcare workers to address sexual problems. Indeed, such complaints are not currently sufficiently detected and treated. In clinical practice, a screening tool is lacking to help French-speaking patients and healthcare professionals address this issue.

Objective: The main aim of this study was to evaluate the reliability and validity of the French adaptation of the self-assessment Sexual Complaints Screener scale for Women (SCS-W) and Men (SCS-M).

Method: A prospective study was conducted among patients with MS in two centers. The SCS-W was adapted into French (QPS-F: questionnaire de plaintes sexuelles - Femmes) and compared to the reference questionnaire Female Sexual Function Index-19 (FSFI-19). The SCS-M was adapted into French (QPS-H: questionnaire de plaintes sexuelles - Hommes) and compared to the reference International Index of Erectile Function-15 (IIEF-15).

Results: Included were 101 women and 35 men with MS. Median age was 40.5 (range: 20-68) years. Based on the Cronbach alpha coefficient, the internal coherence of the QPS in French was 0.89 for women (QPS-F) and 0.71 for men (QPS-H), indicating high reliability. For QPS-F, the bivariate Pearson correlation coefficient indicated good convergence for desire and satisfaction, and average convergence for orgasm, pain, and arousal excitability. For QPS-H, the convergence was good for desire, pleasure, and ejaculation.

Conclusion: The French versions of the SCS-W/M scales, namely QPS-F and QPS-H, are reliable and validated tools compared with the reference questionnaires, FSFI and IIEF-15, respectively. The QPS-F/H are useful tools for brief, simple, and accurate screening and assessment of sexual complaints. They provide supportive information for clinicians who are less familiar with the clinical significance of sexual complaints and hence can be helpful to achieve more adapted care. These scales are adapted, but not specific, to MS. They could be used in other pathologies and the general population.

Status epilepticus (SE) represents one of the most common neurological emergencies, associated with high mortality and an important risk of functional sequelae in survivors. Magnetic resonance imaging (MRI) offers the possibility of early and noninvasive observation of seizure-induced parenchymal disturbances secondary to the epileptic process. In the present review, we propose a descriptive and comprehensive understanding of current knowledge concerning seizure-induced MRI abnormalities in SE, also called peri-ictal MRI abnormalities (PMAs). We then discuss how PMAs, as a noninvasive biomarker, could be helpful to optimize patient prognostication in SE management. Finally, we discuss alternative promising MRI approaches, including arterial spin labeling (ASL), susceptibility-weighted imaging (SWI), dynamic contrast-enhanced (DCE) MRI and dynamic susceptibility contrast (DSC) MRI that could refine our understanding of SE, particularly in non-convulsive form.

Background: Congenital myasthenic syndromes (CMS) are a heterogeneous group of rare genetic disorders. The acetyl choline receptor contains five subunits, with a predominance of mutations affecting the epsilon subunit gene called cholinergic receptor nicotinic epsilon (CHRNE) gene.

Objective: To study the clinical phenotype of 17 families with CHRNE gene mutations.

Methods: We report a series of 17 families with 22 affected patients carrying different mutations encoding CHRNE proteins.

Results: We studied their clinical and biological phenotypes, as well as their evolutionary profile and their response to the different therapies proposed. A phenotypic comparison was made between the families carrying the founding Maghrebian mutation and the other mutations found in this series.

Conclusion: The CHRNE gene mutations are the most frequent ones in CMS. The phenotypes reported in this study are heterogeneous, and can depend on the causative mutation.

Cognitive impairment is one of the invisible symptoms of Multiple sclerosis (MS), which could be associated with depression, unemployment, reduced social interaction, inability to drive, and compromised quality of life. Moreover, the presence of cognitive impairment can be considered as a long-term prognostic factor and in the follow-up of disability. So, cognitive assessment is a crucial element in clinical follow-up of patients with MS (pwMS). International recommendations mention the use of the Brief International Cognitive Assessment in MS (BICAMS). The BICAMS, that has been recently validated in French is a brief non-exhaustive assessment, developed as a short screening battery, hence needing other supplemented tests. The present paper aims to propose a consensus, approved by expert French consensus from the Cognition group of the SF-SEP (http://sfsep.org [Société Francophone de la Sclérose en Plaques]), for cognitive assessment of pwMS suggesting the tools that should be used in order to apprehend the other cognitive impairments that could appear in MS.

Primary lateral sclerosis (PLS) is a motor neuron condition marked by pure upper motor neuron (UMN) degeneration. PLS represents around 3% of all motor neuron diseases. Classically the prognosis of PLS is less severe than those of amyotrophic lateral sclerosis (ALS). This explains the necessity to distinguish both conditions as early as possible. The key hallmark between the two diseases is the involvement of the lower motor neuron (LMN) system which is classically considered spared in PLS contrary to ALS. Although it seemed clinically easy to distinguish PLS from ALS with the aid of clinical and complementary examinations, there is a large body of evidence highlighting that the LMN system might be impaired in PLS. This led us to suggest that PLS might be considered as an almost pure UMN ALS phenotype.

Introduction: Neuropsychiatric symptoms are highly prevalent in Parkinson's disease (PD) and significantly affect the quality of life of patients and their significant others. The aim of this work is to describe typical neuropsychiatric symptoms and their treatment.

Methods: This is a narrative opinion paper, illustrated by a fictional case report. The most common neuropsychiatric symptoms such as depressive symptoms, anxiety, apathy, psychotic symptoms, impulse control disorders, as well as cognitive impairment are discussed in the context of prodromal stage, early stage, fluctuations stage, post-surgical intervention, and late stage of PD.

Results: Multiple factors such as pathophysiology, dopaminergic medication, deep brain stimulation, personality traits and individual life circumstances influence neuropsychiatric symptoms. Since the complexity and causes of neuropsychiatric symptoms can change, management strategies have to be adapted and individualised throughout the disease trajectory.

Discussion: Recognising neuropsychiatric symptoms within the framework of the disease stage and identifying their potential causes is pivotal to provide adequate interventions.

Purpose: Primary central nervous system lymphoma (PCNSL) mainly affects the brain (>90% cases); there are very little data pertaining to PCNSL involving the spinal cord.

Methods: We retrospectively selected from the French LOC network database adult immunocompetent patients diagnosed with PCNSL involving the spinal cord between 2011 and 2022.

Results: Of the 2043 patients records retrieved from the database, 16 patients (median age: 62.5 years, median Karnofsky performance status: 40) satisfied our study's selection criteria. The median diagnostic delay was 97 days. Upon diagnosis, 10 patients could not walk, and seven had an indwelling urinary catheter. All of the patients had undergone MRI that revealed expansive lesion(s) with homogeneous contrast enhancement. Brain lesions were found in nine patients and CSF IL-10 was increased in 9 of 10 patients. The diagnosis of PCNSL was made based on brain biopsy (n=6), spinal cord biopsy or surgery (n=6) or cytologic analysis of CSF (n=4). All the patients were treated with high-dose methotrexate-based chemotherapy, followed by spinal cord irradiation (n=1) or autograft (n=4). The median PFS and OS were 29 and 51 months, respectively. Among the responders, 33% remained in a wheelchair, and only 25% regained the ability to walk without assistance.

Conclusion: Considering the high risks associated with a spinal cord biopsy, the rarity of the disease and the lack of specificity of its clinicoradiological presentation, the diagnosis of spinal cord lymphoma is often delayed. Searching for other lymphomatous locations or assaying CSF IL-10 may be helpful in this disease, which can cause irreversible handicap.

Background: Vascular diseases (VDs) are increasingly studied in multiple sclerosis (MS) due to their significant impact on disability and mortality. Our aim was to evaluate VD incidence rates and determine the prevalence of VD-related mortality.

Material and methods: Our study followed the PRISMA 2020 guidelines. We searched PubMed, Google Scholar, Europe PMC, and Web of Science from the inception up to April 30th, 2024. Data analysis was performed using the R statistics package program. Sensitivity analysis, subgroup analysis, and meta-regression were conducted for significant heterogeneity.

Results: We collected 23 studies. Patients with MS exhibited significantly higher rates of VD compared with controls. Patients with MS showed a significantly higher rate of heart failure (HF), venous thromboembolism (VTE), peripheral vascular disease (PVD), and stroke, although the incidence rate of atrial fibrillation/flutter was significantly lower compared with controls. High blood pressure tended to be lower compared with controls. The highest rate of VD was within the first 10years of follow-up, significantly for myocardial infraction, VTE, and stroke, compared with controls. Regarding mortality, the prevalence of VD-related mortality among deceased individuals with MS was 16.7% [95% CI 11.8;22.0].

Conclusion: Our meta-analysis revealed a significant dynamic nexus between MS and VD. MS may act as an independent risk factor for certain VDs, yet it could also be a protective factor against others. Physicians should consider VD and mortality related to VD when managing patients with MS.