Revue neurologique最新文献

{"title":"French guidelines for the diagnosis and management of Tourette syndrome","authors":"","doi":"10.1016/j.neurol.2024.04.005","DOIUrl":"10.1016/j.neurol.2024.04.005","url":null,"abstract":"<div><div>The term “Gilles de la Tourette syndrome”, or the more commonly used term “Tourette syndrome” (TS) refers to the association of motor and phonic tics which evolve in a context of variable but frequent psychiatric comorbidity. The syndrome is characterized by the association of several motor tics and at least one phonic tic that have no identifiable cause, are present for at least one year and appear before the age of 18. The presence of coprolalia is not necessary to establish or rule out the diagnosis, as it is present in only 10% of cases. The diagnosis of TS is purely clinical and is based on the symptoms defined by the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). No additional tests are required to confirm the diagnosis of TS. However, to exclude certain differential diagnoses, further tests may be necessary. Very frequently, one or more psychiatric comorbidities are also present, including attention deficit hyperactivity disorder, obsessive-compulsive disorder, anxiety, explosive outbursts, self-injurious behaviors, learning disorders or autism spectrum disorder. The condition begins in childhood around 6 or 7 years of age and progresses gradually, with periods of relative waxing and waning of tics. The majority of patients experience improvement by the end of the second decade of life, but symptoms may persist into adulthood in around one-third of patients. The cause of TS is unknown, but genetic susceptibility and certain environmental factors appear to play a role. The treatment of TS and severe forms of tics is often challenging and requires a multidisciplinary approach (involving the general practitioner (GP), pediatrician, psychiatrist, neurologist, school or occupational physicians, psychologist and social workers). In mild forms, education (of young patients, parents and siblings) and psychological management are usually recommended. Medical treatments, including antipsychotics, are essential in the moderate to severe forms of the disease (i.e. when there is a functional and/or psychosocial discomfort linked to tics). Over the past decade, cognitive-behavioral therapies have been validated for the treatment of tics. For certain isolated tics, botulinum toxin injections may also be useful. Psychiatric comorbidities, when present, often require a specific treatment. For very severe forms of TS, treatment by deep brain stimulation offers real therapeutic hope. If tics are suspected and social or functional impairment is significant, specialist advice should be sought, in accordance with the patient's age (psychiatrist/child psychiatrist; neurologist/pediatric neurologist). They will determine tic severity and the presence or absence of comorbidities. The GP will take over the management and prescription of treatment: encouraging treatment compliance, assessing side effects, and combating stigmatization among family and friends. They will also play an important role in rehabilitation therapies, as well as in e","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 8","pages":"Pages 818-827"},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141026859","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":"Professor Alan B. Scott (1932–2021): “The inventor of Botox”","authors":"","doi":"10.1016/j.neurol.2023.10.012","DOIUrl":"10.1016/j.neurol.2023.10.012","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 8","pages":"Pages 838-843"},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138499336","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":"Importance of glucose and its metabolism in neurodegenerative disorder, as well as the combination of multiple therapeutic strategies targeting α-synuclein and neuroprotection in the treatment of Parkinson's disease","authors":"","doi":"10.1016/j.neurol.2023.08.011","DOIUrl":"10.1016/j.neurol.2023.08.011","url":null,"abstract":"<div><div>According to recent findings, Phosphoglycerate Kinase 1 (pgk-1) enzyme is linked to Parkinson's disease (PD). Mutations in the <em>PGK-1</em> gene lead to decreases in the pgk<em>-1</em> enzyme which causes an imbalance in the levels of energy demand and supply. An increase in glycolytic adenosine triphosphate (ATP) production would help alleviate energy deficiency and sustain the acute energetic need of neurons. Neurodegeneration is caused by an imbalance or reduction in ATP levels. Recent data suggest that medications that increase glycolysis and neuroprotection can be used to treat PD. The current study focuses on treatment options for disorders associated with the pgk<em>-1</em> enzyme, <em>GLP-1</em>, and A_2A receptor which can be utilized to treat PD. A combination of metformin and terazosin, exenatide and meclizine, istradefylline and salbutamol treatments may benefit parkinsonism. The review also looked at potential target-specific new techniques that might assist in satisfying unfulfilled requirements in the treatment of PD.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 8","pages":"Pages 736-753"},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138470764","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":"Advocating for rituximab as first-line treatment for NMOSD-AQP4 patients in France: Cost and efficacy considerations","authors":"","doi":"10.1016/j.neurol.2024.06.003","DOIUrl":"10.1016/j.neurol.2024.06.003","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 8","pages":"Pages 711-714"},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141538506","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":"Pathways to epilepsy surgery in children with tuberous sclerosis complex-associated epilepsy","authors":"","doi":"10.1016/j.neurol.2024.04.009","DOIUrl":"10.1016/j.neurol.2024.04.009","url":null,"abstract":"<div><h3>Background</h3><div>Previous studies showed the efficacy of epilepsy surgery in carefully selected children with epilepsy associated with tuberous sclerosis complex. However, how this selection is conducted, and the characteristics of the patients brought to surgery are still poorly described. By conducting a multicentric retrospective cohort study covering the practice of the last twenty years, we describe the paths leading to epilepsy surgery in children with epilepsy associated with tuberous sclerosis complex.</div></div><div><h3>Methods</h3><div>We identified 84 children diagnosed with tuberous sclerosis complex and epilepsy by matching two exhaustive registries of genetic diseases and subsequent medical records reviews within two French neuropediatric and epilepsy centers. Demographic, clinical, longitudinal, and diagnostic and surgical procedures data were collected.</div></div><div><h3>Results</h3><div>Forty-six percent of the children were initially drug-resistant and 19% underwent resective surgery, most often before the age of four. Stereotactic electroencephalography was performed prior to surgery in 44% of cases. Fifty-seven and 43% of patients remained seizure-free one and ten years after surgery, respectively. In addition, 52% of initially drug-resistant patients who did not undergo surgery were seizure-free at the last follow-up. The number of anti-seizure medications required decreased in 50% of cases after surgery. Infantile spasms, intellectual disability, autism spectrum disorder or severe behavioral disorders were not contraindications to surgery but were associated with a higher rate of complications and a lower rate of seizure freedom after surgery.</div></div><div><h3>Conclusion</h3><div>Despite the assumption of complex multifocal epilepsy and practical difficulties in young children with tuberous sclerosis complex, successful surgery results are comparable with other populations of patients with drug-resistant epilepsy, and a spontaneous evolution to drug-sensitive epilepsy may occur in non-operated patients.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 8","pages":"Pages 807-817"},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141311599","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":"Cortical type memory impairment in CADASIL: Watch out for the second train!","authors":"","doi":"10.1016/j.neurol.2024.05.005","DOIUrl":"10.1016/j.neurol.2024.05.005","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 8","pages":"Pages 835-837"},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141427507","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 effectiveness and safety of non-pharmacological intervention for pain management in Parkinson's disease: A systematic review","authors":"","doi":"10.1016/j.neurol.2023.04.010","DOIUrl":"10.1016/j.neurol.2023.04.010","url":null,"abstract":"<div><div>Chronic pain is a non-motor symptom affecting from 60 to 80% of patients with Parkinson's disease (PD). PD patients can suffer from different types of pain, either specific or not specific of the disease, and depending on various pathophysiological mechanisms (nociceptive, nociplastic or neuropathic), which can be present at any stage of the disease. Non-pharmacological interventions (NPIs) are essential to complement routine care interventions in PD pain management. Moreover, in the literature, it has been shown that 42% of PD patients are already using complementary therapies. Hence, our aim was to investigate the effectiveness and safety of NPIs for pain management in PD. A systematic review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. Eighteen published randomized control trials (RCTs) were included between 2004 and 2021 leading to a total of 976 PD patients. From them, we reported fifteen different NPIs classified in seven categories: physical exercises, balneotherapy, manual therapy, acupuncture, botanical preparation, body-psychological practice and multiprotection care. Our results have shown that NPIs for PD pain management had a low-to-moderate level of evidence showing mainly favourable results, even if some NPIs presented inconclusive results. Moreover, our review highlighted the clinical relevance of some specific NPIs in PD pain management: NPIs consisting of active physical activities, opposed to passive activities. The safety of NPIs was also confirmed since only few minor transient adverse events were reported. Nevertheless, even if some interesting results were found, the methodology of future studies needs to be more robust and to include comprehensive descriptions in order to offer reliable and sound recommendations to clinicians.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 8","pages":"Pages 715-735"},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41211163","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":"Self-reported outcomes and quality of life of patients with non-dystrophic myotonia: The French IMPACT 2022 survey","authors":"","doi":"10.1016/j.neurol.2024.04.007","DOIUrl":"10.1016/j.neurol.2024.04.007","url":null,"abstract":"<div><div>Non-dystrophic myotonias (NDM) are disabling genetic diseases that impact quality of life. To reduce the impact of NDM, patients develop coping strategies such as lifestyle adaptation and avoiding key triggers. To understand how myotonia affects patients’ lives, the IMPACT survey, an online questionnaire on patient-reported outcomes, was developed based on international IMPACT questionnaire. The French IMPACT 2022 survey was completed by 47 NDM French patients. Besides muscle stiffness (98%), patients reported muscle pain (83%), falls (70%) and anxiety (77%). These issues negatively impacted abilities to work/study (49%), daily life at home (49%) and overall mobility outside (49%). Most patients (96%) reported ongoing pharmacological treatment (mexiletine, 91%) associated with improvement in muscle stiffness (100%) and reduction in falls (94%), muscle pain (87%) and anxiety (80%). Patients were moderately satisfied (19.1%), satisfied (42.6%) and very satisfied (29.8%) with the current management; 32% rated their quality of life positively (≥ 8 on 10-point scale). In conclusion, this French survey confirms the impact of myotonia on daily life and quality of life. The improvement in patient-reported outcomes in treated participants highlights the importance of managing myotonia with effective treatments. More work should be initiated to assess the importance of NDM symptom management and patients’ adherence and compliance to treatment.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 8","pages":"Pages 791-797"},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176212","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Influence of continuous subcutaneous apomorphine infusion on cognition and behavior in Parkinson's disease: A systematic review.","authors":"J-F Houvenaghel, M Meyer, E Schmitt, A Arifi, E Benchetrit, A Bichon, C Cau, L Lavigne, E Le Mercier, V Czernecki, K Dujardin","doi":"10.1016/j.neurol.2024.06.008","DOIUrl":"https://doi.org/10.1016/j.neurol.2024.06.008","url":null,"abstract":"<p><strong>Introduction: </strong>The efficacy of continuous subcutaneous apomorphine infusion (CSAI) for motor complications of Parkinson's disease (PD) is established. However, its effect on cognition and behavior remains controversial. The main objective of this systematic review was to describe the existing literature on the effects of CSAI on cognition and behavior and to determine the quality for each study.</p><p><strong>Methods: </strong>PubMed/Medline, Embase, APA PsycInfo®, and Cochrane Library databases were searched, following PRISMA recommendations. Only longitudinal studies evaluating the effect of CSAI on cognition (global cognition, executive functions, visuospatial abilities, language, memory, attention, social cognition) and/or behavior (depression, anxiety, apathy, psychotic symptoms, impulse control disorders, neuropsychiatric fluctuations) in PD were included. The quality of the included studies was also assessed with a questionnaire.</p><p><strong>Results: </strong>Twenty-three longitudinal studies evaluated the effect of CSAI on cognition and/or behavior. Overall, results were suggestive of positive effects, notably on executive functions and emotion recognition. However, there were some reports of cognitive slowing and long-term global cognitive deterioration. At the behavioral level, no study showed significant adverse effect of CSAI. Occasionally, a slight improvement of depression, anxiety, apathy, and neuropsychiatric fluctuations was reported. Nevertheless, only four studies met good quality criteria and controlled study regarding cognition were lacking.</p><p><strong>Conclusion: </strong>The results suggest that CSAI has no obvious negative effects on cognition and behavior in PD. This treatment even shows promise in reducing certain symptoms such as neuropsychiatric fluctuations. However, due to methodological limitations in many studies, no robust conclusions can be drawn. Further multicenter controlled trials are needed to confirm these results.</p>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141902786","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":"Spreading of motor neuron degeneration in ALS is not so random","authors":"P. Corcia ,&nbsp;P. Couratier","doi":"10.1016/j.neurol.2024.02.384","DOIUrl":"10.1016/j.neurol.2024.02.384","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 6","pages":"Pages 475-476"},"PeriodicalIF":3.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140013205","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}