Revue neurologique最新文献

Objective: The aim of our study was to determine the etiologies of optic disc edema between 2021 and 2022.

Materials and methods: This was a multicentric study at the Timone and Nord university hospitals in Marseille. Patients were retrospectively followed in ophthalmology departments, with inclusion between January 2021 and December 2022. All patients presenting with newly diagnosed uni- or bilateral optic disc edema, both adults and children, were included. Their ophthalmological evaluation included a fundus examination and optical coherence tomography if feasible.

Results: In total, 197 patients were included. Intracranial hypertension (IH) was the most frequent etiology (37.06%). The primary causes of IH were idiopathic (27/73), intracranial tumors (21/73), and cerebral venous thrombosis (12/73). The second etiology of optic disc edema was retinal vein occlusion in 19.9% of cases (39/197). Edema reactive to uveitis was found in 13.2% of cases (26/197). Finally, inflammatory (17/197) and ischemic (30/197) optic neuropathies were identified.

Conclusion: This study updates the most frequent etiologies of optic disc edema in 2021 and 2022 to facilitate diagnostic hypotheses for de novo optic disc edema. It highlights the importance of a comprehensive and personalized evaluation in diagnosing optic disc edema, taking into account recent advances in imaging techniques and biomarkers.

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.

The French migraine management recommendations were published in 2021. However, in the last three years, new data have come to light and new drugs have been approved (eptinezumab, rimegepant and atogepant) by the European Medicines Agency that require us to take a position on their use and to update certain elements of the recommendations. The first important message concerns the position of the French Headache Society on the use of preventive treatments (monoclonal antibodies and gepants) targeting the calcitonin gene-related peptide (CGRP) pathway. In terms of efficacy and safety, and as suggested by other national headache societies, these treatments can be offered as first-line treatment, although the scope defined by the French national health authority for possible reimbursement is limited to patients with severe migraine, at least eight headache days per month and for whom two previous preventive treatments have failed. Another important change concerns the position of topiramate as a preventive treatment for migraine in women of childbearing age. This treatment has been proposed as a first-line treatment for chronic migraine. However, recent pharmacovigilance data have highlighted a potential adverse effect on neurodevelopment in children exposed in utero. As a result, this treatment is formally contraindicated during pregnancy and must be used with extreme caution in women of childbearing age (effective contraception, no therapeutic alternative available and annual follow-up as with valproate). It can therefore no longer be offered as first-line treatment for women of childbearing age.

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.