Revue neurologique最新文献

{"title":"Superficial white matter hyperintensities are associated with mild tissue alterations in vascular aging","authors":"A. Aghetti ,&nbsp;V. Bouteloup ,&nbsp;J. Lebenberg ,&nbsp;M. Chupin ,&nbsp;E. Gourieux ,&nbsp;J.-F. Mangin ,&nbsp;G. Chêne ,&nbsp;C. Dufouil ,&nbsp;E. Jouvent ,&nbsp;behalf of the Memento Study Group","doi":"10.1016/j.neurol.2025.03.014","DOIUrl":"10.1016/j.neurol.2025.03.014","url":null,"abstract":"<div><div>In the elderly, white matter hyperintensities (WMH) are usually rated as periventricular or deep. However, recent data suggest that superficial WMH may be associated with distinct mechanisms and may be associated with milder underlying tissue alterations. We developed and validated a new grading scale to differentiate superficial WMH from other WMH (either periventricular or deep). We evaluated individuals with high loads of WMH from MEMENTO, a multicenter memory-clinic study, to evaluate the links between superficial WMH and 1) MRI markers of cerebral small vessel disease (number of lacunes and microbleeds and normalized brain volume); 2) cognitive outcomes including global evaluation with Mini Mental State Examination (MMSE). Our analytical sample included 208 participants. Participants with higher grades of superficial WMH had larger normalized brain volumes (82.1<!--> <!-->±<!--> <!-->1.3% vs 81.0<!--> <!-->±<!--> <!-->1.1%, <em>P</em> <!-->&lt;<!--> <!-->0.001) and were more frequently women (85.0% vs 51.4%, <em>P</em> <!-->=<!--> <!-->0.01). In total contrast but as expected, participants with higher grades of other WMH were older (79.8<!--> <!-->±<!--> <!-->8.1 vs 75.5<!--> <!-->±<!--> <!-->6.2 years, <em>P</em> <!-->&lt;<!--> <!-->0.001), had more often lacunes (41.7% vs 7.1%, <em>P</em> <!-->&lt;<!--> <!-->0.001) and performed worse at the MMSE (26.8<!--> <!-->±<!--> <!-->2.0 vs 28.1<!--> <!-->±<!--> <!-->1.7, <em>P</em> <!-->=<!--> <!-->0.01). Our results support the hypothesis that superficial WMH are distinct from other WMH and probably correspond to mild tissue alterations.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 6","pages":"Pages 563-570"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036760","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Psychoses onset in multiple sclerosis: A systematic review and meta-analysis","authors":"I. Ketata ,&nbsp;E. Ellouz ,&nbsp;A. Ketata","doi":"10.1016/j.neurol.2025.03.012","DOIUrl":"10.1016/j.neurol.2025.03.012","url":null,"abstract":"<div><h3>Background</h3><div>Psychotic symptoms in multiple sclerosis (MS) have been infrequently studied, despite the existence of numerous case reports showing inconsistent findings. Our aim was to assess the timing of psychosis onset and examine its characteristics in MS cases.</div></div><div><h3>Material and methods</h3><div>We conducted a systematic review and meta-analysis according to PRISMA 2020. We searched for case reports and case series of psychosis in MS on MEDLINE through PubMed, Google Scholar, Web of Science, and Cochrane. SPSS 26 was used to perform the data analysis.</div></div><div><h3>Results</h3><div>Overall, 43 cases were reviewed. Bipolar disorder and schizophrenia (SCZ) were the most frequently observed types. Psychosis was often present before or at the time of MS diagnosis. For patients with prior psychosis before MS diagnosis, those with SCZ were less likely to develop neurologic symptoms compared to those with other psychosis types. Polymorphic delusions were significantly associated with psychosis onset either after or concurrently with MS. Extensive periventricular white matter lesions, cerebellar peduncles, and cerebellar lesions were significantly associated with the onset of psychosis following MS diagnosis. Resistant-treatment psychosis occurred in 59.4% of cases. A favorable outcome was significantly more common in patients with relapsing-remitting MS compared to those with other forms of MS.</div></div><div><h3>Conclusion</h3><div>Our study highlights the importance of considering MS in patients with psychoses, especially those with SCZ or treatment-resistant psychosis. Some white matter lesions may trigger psychosis after MS diagnosis. While managing psychosis in MS can be challenging, MS-specific treatments have proven effective.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 6","pages":"Pages 483-502"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Shades of Babinski: Grading the absolute","authors":"S.A. Sohrab","doi":"10.1016/j.neurol.2025.03.007","DOIUrl":"10.1016/j.neurol.2025.03.007","url":null,"abstract":"<div><div>Plantar reflex has been an integral component of neurological examination since its introduction more than a century ago. Despite its simplicity of description, elicitation and interpretation of the reflex and inter-observer agreement have not proven as easily achievable or perfect as the original succinct description promises. We propose a method and a simple tool to grade and standardize performance of plantar reflex among different observers and patients.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 6","pages":"Pages 591-593"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144042546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"French guidelines for the diagnosis and management of pure hereditary spastic paraplegia","authors":"L. Mania-Pâris ,&nbsp;C. Ewenczyk ,&nbsp;G. Nicolas ,&nbsp;M. Anheim ,&nbsp;A. Durr ,&nbsp;B. Pichon ,&nbsp;M.-E. Isner-Horobeti ,&nbsp;C. Angelini ,&nbsp;C. Goizet ,&nbsp;A. Roubertie ,&nbsp;B. Soudrie ,&nbsp;J.-B. Davion ,&nbsp;I. Marolleau ,&nbsp;I. Maumy ,&nbsp;V. Pichon ,&nbsp;C. Thauvin ,&nbsp;Q. Thomas","doi":"10.1016/j.neurol.2025.05.001","DOIUrl":"10.1016/j.neurol.2025.05.001","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Introduction&lt;/h3&gt;&lt;div&gt;Hereditary spastic paraplegia (HSP) describes a group of rare genetic neurological diseases characterized by a common clinical presentation made of progressive motor weakness and spasticity of the lower limbs. The global prevalence is estimated at 3.6 individuals per 100,000 inhabitants.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Clinical&lt;/h3&gt;&lt;div&gt;The age of onset of first symptoms, the severity and the rate of progression are highly variable between different HSP subtypes, ranging from juvenile forms that present in the first years of life, to the later-onset forms, sometimes presenting after the age of 60. The medical history most often reveals an insidious onset of gait disturbances due to lower limb stiffness. The clinical examination reveals the key symptoms of HSP: pyramidal signs of the lower limbs with motor weakness predominantly involving the proximal muscles. As the condition progresses, moderate upper limb involvement as well as bladder and sphincter disorders may be present. When associated with other neurological or extra-neurological signs such as cerebellar ataxia, optic neuropathy, cardiomyopathy, or intellectual disability, HSP is referred to as “complex”. This is in contrast to the pure forms of HSP, where the pyramidal syndrome of the lower limbs occurs in isolation, which will be treated here.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Physiopathology&lt;/h3&gt;&lt;div&gt;HSPs are a genetically heterogeneous group of disorders involving numerous distinct molecular pathways. However, regardless of the initial mechanism, they share a common pathophysiology characterized by primary first motor-neuron involvement. Lesions tend to predominate in the spinal cord, following a phenomenon of retrograde degeneration (“dying-back”) of the corticospinal tract.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Diagnosis and genetic counseling&lt;/h3&gt;&lt;div&gt;The diagnostic approach will first aim to eliminate all non-genetic acquired forms of spastic paraplegia as well as other various differential diagnoses. More than 100 genes and disorders are grouped under the term HSP, with age of onset, disease progression and clinical presentation being highly variable. Pure forms of HSP are primarily inherited in an autosomal dominant or recessive manner. Genetic counseling for the patient and their family is ideally provided by a clinical geneticist once the precise molecular diagnosis has been obtained.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Management and care&lt;/h3&gt;&lt;div&gt;The management of pure HSP is multidisciplinary. Its goal is to prevent complications and to propose symptomatic treatment at all stages of the disease. It is primarily based on motor rehabilitation through physiotherapy and physical activity. Psychological support should be offered from the moment the diagnosis is announced and throughout the follow-up. Multidisciplinary follow-up is coordinated by the primary care physician, in consultation with the expert pediatric neurologist/neurologist or neurogeneticist, and equally involves a physical medicine and rehab","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 6","pages":"Pages 471-482"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144226411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advances and research priorities in the respiratory management of ALS: Historical perspectives and new technologies","authors":"J. Kleinerova ,&nbsp;E.L. Tan ,&nbsp;S. Delaney ,&nbsp;M. Smyth ,&nbsp;P. Bede","doi":"10.1016/j.neurol.2025.04.008","DOIUrl":"10.1016/j.neurol.2025.04.008","url":null,"abstract":"<div><div>Respiratory involvement has been identified as a cardinal feature of amyotrophic lateral sclerosis (ALS) since its earliest descriptions in the 19th century. Since these initial reports, considerable research has been undertaken to clarify the pathophysiology and progression rates associated with respiratory compromise and effective management strategies have been developed. Clinical trials routinely incorporate respiratory measures as study end points, non-invasive ventilation is now widely used in the home setting, cough-assist techniques are commonly used, advanced neurophysiology techniques and wearable technologies have been integrated into respiratory monitoring protocols, and palliative guidelines have been developed to effectively manage respiratory distress. Despite the widespread implementation of these interventions, epidemiology studies are inconsistent and some studies suggest that survival in ALS has not improved significantly with the introduction of these measures. The outcomes of diaphragmatic pacing trials have been disappointing, advanced neurophysiology techniques are not routinely utilised, spinal and brainstem imaging are not commonly undertaken and significant geographical differences exist in proceeding to tracheostomy. The worldwide COVID pandemic has given impetus for remote monitoring, connected devices, video-consultations, and timely vaccinations in ALS; lessons that are invaluable long after the pandemic. Respiratory monitoring and management in ALS is a swiftly evolving facet of ALS care with considerable quality of life benefits.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 6","pages":"Pages 525-534"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The diagnostic and therapeutic journey of Tourette syndrome: Thematic analysis of the difficulties experienced by parents of patients","authors":"Z. Breton ,&nbsp;P. Denis ,&nbsp;V. Goussé ,&nbsp;A. Hartmann","doi":"10.1016/j.neurol.2025.03.011","DOIUrl":"10.1016/j.neurol.2025.03.011","url":null,"abstract":"<div><h3>Objective</h3><div>The aim of this thematic analysis is to formalize the parental trajectories of therapeutic wandering, from first symptoms to the diagnosis until disease management.</div></div><div><h3>Methods</h3><div>An inductive and deductive thematic analysis was carried out based on 25 interviews with parents of children with TS. Statistical and association tests were also conducted.</div></div><div><h3>Results</h3><div>From the interviews with parents, 284 codes were categorized into 19 inductive subthemes, which were then grouped into 5 deductive themes. Some of the subthemes were relevant to all interviewees, and ranged from the description of the disease characteristics, parental distress, the impact of the TS diagnosis, and the evaluation of the diagnostic journey.</div></div><div><h3>Conclusion</h3><div>Our study sheds light on how the parents of children with TS experience the diagnostic and therapeutic journey. By highlighting recurrent themes experienced by families, we hope that the results will be beneficial to both parents and children with TS in avoiding future diagnostic and therapeutic delay.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 6","pages":"Pages 544-555"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autosomal dominant distal myopathy due to p.Ser85Cys mutation in the MATR3 gene: Novel case series and literature review","authors":"D.M. Chitimus ,&nbsp;N. Venturelli ,&nbsp;C. Lefeuvre ,&nbsp;C. Métay ,&nbsp;G. Nicolas ,&nbsp;R.-Y. Carlier ,&nbsp;P. Laforêt ,&nbsp;C. Guémy","doi":"10.1016/j.neurol.2025.04.011","DOIUrl":"10.1016/j.neurol.2025.04.011","url":null,"abstract":"<div><h3>Introduction</h3><div><span><span>Matrin-3 autosomal dominant </span>myopathy, most commonly caused by a Ser85Cys (S85C) </span>missense mutation<span>, is a rare distal myopathy, presenting a heterogeneous phenotype.</span></div></div><div><h3>Methods</h3><div>We report the clinical, physiological, radiological, and histological features of the first Portuguese patients diagnosed with p.Ser85Cys <em>MATR3</em><span>-related myopathy using a specific gene panel dedicated to “distal myopathies”. Additionally, a narrative review of the literature was performed to contextualize our findings within the broader landscape of </span><em>MATR3</em>-related pathologies.</div></div><div><h3>Results</h3><div><span><span><span><span>Our case series describes the clinical findings of three patients diagnosed and followed in our center. The first patient was a 57-year-old male presenting with lower limb weakness, followed by loss of muscle force for fine motor gestures in the distal upper limb. Neurological examination revealed important </span>muscle atrophy<span><span> of the distal limbs and symmetrical motor deficit. The second patient, the brother of the aforementioned subject, was a 54-year-old male with similar symptoms associated with dysphagia and </span>dysphonia. The third patient was a 58-year-old female, unrelated to the previous patients, presenting with distal weakness in the upper limbs and severe Achillean contractures. All three patients were investigated using needle </span></span>electromyography<span><span> and whole-body magnetic resonance imaging that disclosed a fatty infiltration pattern in the gastrocnemius, soleus, and </span>tibialis anterior muscles<span><span>. A muscle biopsy was performed solely for one patient and revealed rimmed </span>vacuoles, consistent with previous reports. </span></span></span>Genetic analysis found the same mutation in all three cases: c.254C&gt;G, p.Ser85Cys in the </span><em>MATR3</em> gene. The literature review included nine articles reporting families diagnosed with the p.Ser85Cys mutation in the <em>MATR3</em><span> gene, and the main phenotypes associated with this genetic variant.</span></div></div><div><h3>Conclusion</h3><div>Despite being a rare myopathy, with only a few cases reported, <em>MATR3</em><span> gene mutations should be considered in patients with distal myopathy and rimmed vacuoles on muscle biopsy.</span></div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 7","pages":"Pages 608-614"},"PeriodicalIF":2.3,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144187810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Discussing with our patient a presymptomatic adult-onset neurological disease.","authors":"C Lebrun-Frenay","doi":"10.1016/j.neurol.2025.04.010","DOIUrl":"https://doi.org/10.1016/j.neurol.2025.04.010","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144804572","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Artificial intelligence applied to electroencephalography in epilepsy","authors":"C. Alvarado-Rojas ,&nbsp;G. Huberfeld","doi":"10.1016/j.neurol.2025.02.007","DOIUrl":"10.1016/j.neurol.2025.02.007","url":null,"abstract":"<div><div>Artificial intelligence (AI) is progressively transforming all fields of medicine, promising substantial changes in clinical practice. In the context of epilepsy, electroencephalography (EEG), a technique used for over a century, has historically been resistant to automated analysis due to the complexity of the signals and the challenges posed by artifact management. While the human eye excels at recognizing patterns, algorithms have demonstrated superior capabilities in detecting and characterizing specific features, such as long-term dynamics and synchrony. Furthermore, the advent of wearable EEG devices has led to an exponential increase in data volume, surpassing the limits of visual interpretation. AI algorithms are now being developed to address these limitations, offering enhanced efficiency in both identifying subtle signal features and managing massive datasets. This review explores the fundamental principles of AI and its transformative potential in the field of EEG. It discusses the implications and the current limitations, including improvements limited to aggregation of already known knowledge, for epilepsy diagnosis, medical and surgical treatment, and innovative approaches to patient monitoring, including seizure forecasting, highlighting how AI is poised to redefine the management of epilepsy.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 5","pages":"Pages 403-410"},"PeriodicalIF":2.8,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143754015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epilepsy and Alzheimer disease: New insights and perspectives","authors":"Sophie Dupont","doi":"10.1016/j.neurol.2025.03.005","DOIUrl":"10.1016/j.neurol.2025.03.005","url":null,"abstract":"<div><div>Numerous epidemiological and pathophysiological arguments suggest a bidirectional link between late-onset epilepsy and Alzheimer's disease. However, the temporal and causal relationship between the pathophysiological processes underlying these two conditions remains unclear. It is likely that these connections are complex, requiring consideration of various scenarios of causality and reciprocity. In the absence of targeted therapies that effectively address the progression of both diseases, specific measures can be taken to improve patient care. These include screening for cognitive disorders in patients with late-onset epilepsy, detecting subclinical EEG activity in patients with Alzheimer's disease, and identifying and managing cardiovascular risk factors in both populations. Looking ahead, it is evident that global population aging and the potential demographic surge in these two patient groups will necessitate greater efforts to raise awareness and enhance the training of physicians and healthcare professionals in the emerging field of “epileptogeriatrics”.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 5","pages":"Pages 382-390"},"PeriodicalIF":2.8,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143764918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}