Pub Date : 2024-10-07DOI: 10.1016/j.neurol.2024.09.007
M I Kediha, M Tazir, D Sternberg, B Eymard, L Ali Pacha
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.
{"title":"Congenital myasthenic syndromes by Epsilon subunit mutations: Phenotypic profiles of 17 Algerian families.","authors":"M I Kediha, M Tazir, D Sternberg, B Eymard, L Ali Pacha","doi":"10.1016/j.neurol.2024.09.007","DOIUrl":"https://doi.org/10.1016/j.neurol.2024.09.007","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Objective: </strong>To study the clinical phenotype of 17 families with CHRNE gene mutations.</p><p><strong>Methods: </strong>We report a series of 17 families with 22 affected patients carrying different mutations encoding CHRNE proteins.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392923","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}
Pub Date : 2024-10-01DOI: 10.1016/j.neurol.2024.03.010
{"title":"The “zebra sign” after a lumbar puncture","authors":"","doi":"10.1016/j.neurol.2024.03.010","DOIUrl":"10.1016/j.neurol.2024.03.010","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140923007","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}
Pub Date : 2024-10-01DOI: 10.1016/j.neurol.2024.05.004
{"title":"Herpes simplex virus-2 meningo-encephalitis hiding a criminal case of fatal methylmercury poisoning","authors":"","doi":"10.1016/j.neurol.2024.05.004","DOIUrl":"10.1016/j.neurol.2024.05.004","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141311598","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}
Pub Date : 2024-10-01DOI: 10.1016/j.neurol.2024.03.013
<div><h3>Background</h3><div><span>Non-pharmacological complementary interventions, particularly mind-body practices, are of growing importance in the management of Parkinson's disease (PD). Among these, </span>mindfulness<span><span> meditation seems particularly effective, especially on anxiety and depression symptoms. However, current knowledge on mindfulness standardized programs in PD is still limited, particularly in France. Aiming at improving this knowledge we designed the M-PARK study in two phases. Phase 1 consisted in a French national survey to explore expectations, needs and initiatives for </span>mindfulness meditation<span> for PD patients. Phase 2 was a clinical trial<span> with objectives to assess feasibility, acceptability and effects of a mindfulness (MBSR) program proposed to PD patients.</span></span></span></div></div><div><h3>Methods</h3><div><span>In phase 1, online questionnaires were addressed to members of a French PD patient's association (France Parkinson) and French MBSR<span> qualified instructors. In Phase 2, a clinical trial<span> involving 30 PD patients consisted of a standard MBSR program with two additional evaluation visits one month before and after the program. Data collection included a global clinical evaluation, assessment of depression and anxiety symptoms, sleep, pain and </span></span></span>quality of life<span> and a face-to-face interview for qualitative assessment of the acceptability and lived experience during the program. Three MBSR programs were proposed to three groups of ten patients: two were online due to the pandemic situation, one proposed to patients with no or minor fluctuations (group 1) and one for patients with slight to moderate fluctuations (group 2), and the last one face-to-face for patients with no or minor fluctuations (group 3).</span></div></div><div><h3>Results</h3><div>French survey: 209 responses were collected for the questionnaire sent to the members of the association France Parkinson; and 68 for the questionnaire sent to the instructors. Two-thirds of patients surveyed had heard of mindfulness meditation (66%), but were unaware of what this approach really consisted and how it could really help them. Few instructors (29%) had had to deal with patients with PD in their current practice. Yet 90% of patients surveyed indicated they were in favor of introducing this type of approach into their care.</div></div><div><h3>Clinical trial</h3><div><span>The results indicated that the program is feasible and acceptable both online and face-to-face for patients with PD. Among the 30 patients enrolled, 25 completed the program. No unwanted effects related to mindfulness meditation practice were observed. The results showed a statistically significant reduction in anxiety symptoms, depressive symptoms, and improvement in quality of life. Furthermore, no statistically significant change was measured for pain or sleep quality. There was no striking difference in results observed be
{"title":"Mindfulness in Parkinson's disease: A French national survey and a pilot intervention feasibility trial using the MBSR program (M-Park)","authors":"","doi":"10.1016/j.neurol.2024.03.013","DOIUrl":"10.1016/j.neurol.2024.03.013","url":null,"abstract":"<div><h3>Background</h3><div><span>Non-pharmacological complementary interventions, particularly mind-body practices, are of growing importance in the management of Parkinson's disease (PD). Among these, </span>mindfulness<span><span> meditation seems particularly effective, especially on anxiety and depression symptoms. However, current knowledge on mindfulness standardized programs in PD is still limited, particularly in France. Aiming at improving this knowledge we designed the M-PARK study in two phases. Phase 1 consisted in a French national survey to explore expectations, needs and initiatives for </span>mindfulness meditation<span> for PD patients. Phase 2 was a clinical trial<span> with objectives to assess feasibility, acceptability and effects of a mindfulness (MBSR) program proposed to PD patients.</span></span></span></div></div><div><h3>Methods</h3><div><span>In phase 1, online questionnaires were addressed to members of a French PD patient's association (France Parkinson) and French MBSR<span> qualified instructors. In Phase 2, a clinical trial<span> involving 30 PD patients consisted of a standard MBSR program with two additional evaluation visits one month before and after the program. Data collection included a global clinical evaluation, assessment of depression and anxiety symptoms, sleep, pain and </span></span></span>quality of life<span> and a face-to-face interview for qualitative assessment of the acceptability and lived experience during the program. Three MBSR programs were proposed to three groups of ten patients: two were online due to the pandemic situation, one proposed to patients with no or minor fluctuations (group 1) and one for patients with slight to moderate fluctuations (group 2), and the last one face-to-face for patients with no or minor fluctuations (group 3).</span></div></div><div><h3>Results</h3><div>French survey: 209 responses were collected for the questionnaire sent to the members of the association France Parkinson; and 68 for the questionnaire sent to the instructors. Two-thirds of patients surveyed had heard of mindfulness meditation (66%), but were unaware of what this approach really consisted and how it could really help them. Few instructors (29%) had had to deal with patients with PD in their current practice. Yet 90% of patients surveyed indicated they were in favor of introducing this type of approach into their care.</div></div><div><h3>Clinical trial</h3><div><span>The results indicated that the program is feasible and acceptable both online and face-to-face for patients with PD. Among the 30 patients enrolled, 25 completed the program. No unwanted effects related to mindfulness meditation practice were observed. The results showed a statistically significant reduction in anxiety symptoms, depressive symptoms, and improvement in quality of life. Furthermore, no statistically significant change was measured for pain or sleep quality. There was no striking difference in results observed be","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140945982","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}
Pub Date : 2024-10-01DOI: 10.1016/j.neurol.2023.10.012
{"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":null,"pages":null},"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}
Pub Date : 2024-10-01DOI: 10.1016/j.neurol.2024.03.012
Introduction
Dropped head syndrome (DHS) is characterized by a chin-on-chest deformity, correctable by passive neck extension.
Methods
Case report.
Results
A patient with a heavy nephrological history (dialyzed since 5 years) complained for twenty months about a falling head. The symptomatology was punctuated by dialysis sessions, with aggravation secondary to dialysis. Clinical and paraclinical exploration for neurological, neuromuscular or orthopedic disease was negative. Analysis of the post-dialysis blood pressure showed a slow and gradual decline. From the date the patient became symptomatic, blood pressure was below 80/40mmHg. The correction of blood pressure by increasing midodrine posology resulted in a cure of DHS.
Discussion
Considering the negativity of explorations, the cure of symptoms following the correction of arterial hypotension, the rhythmic nature of symptomatology by dialysis, and the recurrence of symptoms concomitantly with drops in blood pressure, we suggested that hypotension was the only etiology explaining this DHS.
{"title":"Dropped head syndrome in severe hypotension","authors":"","doi":"10.1016/j.neurol.2024.03.012","DOIUrl":"10.1016/j.neurol.2024.03.012","url":null,"abstract":"<div><h3>Introduction</h3><div>Dropped head syndrome (DHS) is characterized by a chin-on-chest deformity, correctable by passive neck extension.</div></div><div><h3>Methods</h3><div>Case report.</div></div><div><h3>Results</h3><div><span><span>A patient with a heavy nephrological history (dialyzed since 5 years) complained for twenty months about a falling head. The symptomatology<span> was punctuated by dialysis sessions, with aggravation secondary to dialysis. Clinical and paraclinical exploration for neurological, neuromuscular or </span></span>orthopedic disease was negative. Analysis of the post-dialysis blood pressure showed a slow and gradual decline. From the date the patient became symptomatic, blood pressure was below 80/40</span> <span>mmHg. The correction of blood pressure by increasing midodrine posology resulted in a cure of DHS.</span></div></div><div><h3>Discussion</h3><div>Considering the negativity of explorations, the cure of symptoms following the correction of arterial hypotension, the rhythmic nature of symptomatology by dialysis, and the recurrence of symptoms concomitantly with drops in blood pressure, we suggested that hypotension was the only etiology explaining this DHS.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140945945","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}
Pub Date : 2024-10-01DOI: 10.1016/j.neurol.2024.05.003
Background
Correcting of the lack of regularity in steps is a key component of gait rehabilitation in Parkinson's disease. We proposed to introduce adaptive spatial auditory cueing (ASAC) based on verbal instruction “lengthen the step” automatically delivered when the stride length decreased below a predetermined threshold.
Objectives
The present study compared the effect of usual rhythmic auditory cueing versus ASAC used during a walking training in Parkinson's disease.
Methods
Fifteen patients with Parkinson's disease performed both interventions in randomized order, one week apart: a 20-minute walking training with rhythmic auditory cueing, in form of a metronome adjusted on 110% of the patient's own cadence, or ASAC delivered when the stride length is less than 110% of the patient's own stride length. Assessment criteria were walking distance covered during the intervention, speed, step length, cadence, coefficients of variation of step length and step duration, and indexes of spatial and temporal asymmetry during a walking test before and just after the intervention.
Results
The walking distance is higher with ASAC compared with rhythmic auditory cueing (rhythmic auditory cueing, 905 (203) m, mean (standard deviation); ASAC, 1043 (212) m; P = 0.002). Between-intervention comparison showed some similar effects on walking after the intervention including free speed and step length increases (P < 0.05).
Conclusion
The distance covered during 20-minute walking with ASAC increases by 15% compared to the use of classical rhythmic auditory cueing, while the immediate therapeutic effects show similar spatial-temporal benefits on short-distance walking. Auditory biofeedback cueing promoting the increase in step length might improve gait relearning in Parkinson's disease.
{"title":"Model-based cueing-as-needed for walking in Parkinson's disease: A randomized cross-over study","authors":"","doi":"10.1016/j.neurol.2024.05.003","DOIUrl":"10.1016/j.neurol.2024.05.003","url":null,"abstract":"<div><h3>Background</h3><div>Correcting of the lack of regularity in steps is a key component of gait rehabilitation in Parkinson's disease<span>. We proposed to introduce adaptive spatial auditory cueing (ASAC) based on verbal instruction “lengthen the step” automatically delivered when the stride length decreased below a predetermined threshold.</span></div></div><div><h3>Objectives</h3><div>The present study compared the effect of usual rhythmic auditory cueing versus ASAC used during a walking training in Parkinson's disease.</div></div><div><h3>Methods</h3><div><span><span>Fifteen patients with Parkinson's disease performed both interventions in randomized order, one week apart: a 20-minute walking training with rhythmic auditory cueing, in form of a metronome adjusted on 110% of the patient's own cadence, or ASAC delivered when the stride length is less than 110% of the patient's own stride length. Assessment criteria were walking distance covered during the intervention, speed, </span>step length, cadence, coefficients of variation of step length and step duration, and indexes of spatial and temporal asymmetry during a </span>walking test before and just after the intervention.</div></div><div><h3>Results</h3><div>The walking distance is higher with ASAC compared with rhythmic auditory cueing (rhythmic auditory cueing, 905 (203) m, mean (standard deviation); ASAC, 1043 (212) m; <em>P</em> <!-->=<!--> <!-->0.002). Between-intervention comparison showed some similar effects on walking after the intervention including free speed and step length increases (<em>P</em> <!--><<!--> <!-->0.05).</div></div><div><h3>Conclusion</h3><div>The distance covered during 20-minute walking with ASAC increases by 15% compared to the use of classical rhythmic auditory cueing, while the immediate therapeutic effects show similar spatial-temporal benefits on short-distance walking. Auditory biofeedback cueing promoting the increase in step length might improve gait relearning in Parkinson's disease.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141248250","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}
Pub Date : 2024-10-01DOI: 10.1016/j.neurol.2024.02.389
In France, few data sources are available to estimate the impact of multiple sclerosis (MS) on job retention and its consequences on the level of resources, especially in large representative samples. The aim of the present study was to measure impact of MS on employment rates, wages and income (including unemployment benefit, sickness benefit and disability pension) by comparing work trajectories of people living with MS with those of a matched control group. We used the HYGIE database, which is the result of the linkage of two administrative databases in the private sector for a random sample of over 900,000 people. In order to identify the causal effect of MS on employment after 1 to 20 years, the difference-in-differences method with matching (age, sex, career and health history) was used, overall and in subgroups. The year of entry in long-term disease status for MS was used to approximate the onset of MS. Overall, 946 people with MS were included. Their situation was fairly favorable before MS (88.1% in employment, resources higher than the median for the general population), but MS had strong and continuous negative effects. Indeed, at 10 years, the employment rate fell by 28.6 percentage points (pp) and the disability pension allowance increased by 50.5 pp; the wage percentile fell by 19.2 pp and the replacement income accounted for a growing share of total income (+ 39.7 pp). Although administrative data had several strengths, clinical information on the severity of the disease or on its therapeutic management was not available. In conclusion, this study shows that the effects of MS on the employed population in the private sector occur early in the disease course and are cumulative, and that replacement income helps to reduce the loss of resources thanks to the French health and social system.
{"title":"Impact of multiple sclerosis on employment and income: Insights from a random sample representative of private sector employees in France using longitudinal administrative data","authors":"","doi":"10.1016/j.neurol.2024.02.389","DOIUrl":"10.1016/j.neurol.2024.02.389","url":null,"abstract":"<div><div>In France, few data sources are available to estimate the impact of multiple sclerosis (MS) on job retention and its consequences on the level of resources, especially in large representative samples. The aim of the present study was to measure impact of MS on employment rates, wages and income (including unemployment benefit, sickness benefit and disability pension) by comparing work trajectories of people living with MS with those of a matched control group. We used the HYGIE database, which is the result of the linkage of two administrative databases in the private sector for a random sample of over 900,000 people. In order to identify the causal effect of MS on employment after 1 to 20 years, the difference-in-differences method with matching (age, sex, career and health history) was used, overall and in subgroups. The year of entry in long-term disease status for MS was used to approximate the onset of MS. Overall, 946 people with MS were included. Their situation was fairly favorable before MS (88.1% in employment, resources higher than the median for the general population), but MS had strong and continuous negative effects. Indeed, at 10 years, the employment rate fell by 28.6 percentage points (pp) and the disability pension allowance increased by 50.5 pp; the wage percentile fell by 19.2 pp and the replacement income accounted for a growing share of total income (+ 39.7 pp). Although administrative data had several strengths, clinical information on the severity of the disease or on its therapeutic management was not available. In conclusion, this study shows that the effects of MS on the employed population in the private sector occur early in the disease course and are cumulative, and that replacement income helps to reduce the loss of resources thanks to the French health and social system.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140784943","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}
Pub Date : 2024-10-01DOI: 10.1016/j.neurol.2024.04.005
<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
{"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":null,"pages":null},"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}
Pub Date : 2024-10-01DOI: 10.1016/j.neurol.2024.04.008
Discussing Marian apparitions in the light of current knowledge in neuroscience is a challenge: the testimonies are often old and indirect, and the “visionaries” could not be questioned or even examined according to current neurological or psychiatric standards. In doing so, we are not unaware of the heterogeneity of seers and the facts they reported: there is not necessarily a single hypothesis. It is the appearances of Île Bouchard that will be discussed here. Our interpretation calls on two non-exclusive “mechanisms”: on the one hand, mental imagery, which we know can be unconscious and is modulated or generated by frontal “top-down” mechanisms; on the other hand, the sociological consideration of events, using the concept of enchantment.
{"title":"Marian apparitions: A multidisciplinary approach. The case of Île Bouchard","authors":"","doi":"10.1016/j.neurol.2024.04.008","DOIUrl":"10.1016/j.neurol.2024.04.008","url":null,"abstract":"<div><div>Discussing Marian apparitions in the light of current knowledge in neuroscience is a challenge: the testimonies are often old and indirect, and the “visionaries” could not be questioned or even examined according to current neurological or psychiatric standards. In doing so, we are not unaware of the heterogeneity of seers and the facts they reported: there is not necessarily a single hypothesis. It is the appearances of Île Bouchard that will be discussed here. Our interpretation calls on two non-exclusive “mechanisms”: on the one hand, mental imagery, which we know can be unconscious and is modulated or generated by frontal “top-down” mechanisms; on the other hand, the sociological consideration of events, using the concept of enchantment.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141162069","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}
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