Pub Date : 2024-10-01DOI: 10.1016/j.neurol.2024.04.003
Equitable access to care and management is a priority for patients with epilepsy and may vary depending on each country's healthcare system. As this issue has not been specifically addressed in France, we conducted a retrospective study to identify discriminating factors in access to surgery at a French tertiary epilepsy center. Initially, we examined factors previously identified in other countries as influential in surgery access, including age at diagnosis, affected side, gender, years of education, socio-professional categories, and density of general practitioners in the residential area, in 293 consecutive French-native patients with refractory medial temporal lobe epilepsy and hippocampal sclerosis (MTLE-HS). Subsequently, we conducted a case-control study comparing patients born in France with 22 patients born abroad to specifically explore migratory status. The analysis revealed that the only three factors statistically influencing the delay between the onset of epilepsy and entry into video-EEG were early age at onset (associated with a longer delay), pensioner status (associated with a longer delay), and student status (associated with a shorter delay). Migratory status, gender, and socio-economic level (indirectly reflected by the level of education and socio-professional category) were not found to be discriminatory factors in access to video-EEG. Discrepancies between our study and foreign studies may be attributed to differences in healthcare systems and medical coverage among countries. Efforts in France to improve access to surgery should focus on enhancing communication among practitioners to promptly refer any MTLE-HS patient to an epilepsy surgery center, regardless of their age.
{"title":"Discriminating factors in access to video-EEG for epilepsy surgery in a French tertiary epilepsy center","authors":"","doi":"10.1016/j.neurol.2024.04.003","DOIUrl":"10.1016/j.neurol.2024.04.003","url":null,"abstract":"<div><div><span>Equitable access to care and management is a priority for patients with epilepsy and may vary depending on each country's healthcare system. As this issue has not been specifically addressed in France, we conducted a retrospective study to identify discriminating factors in access to surgery at a French tertiary epilepsy center. Initially, we examined factors previously identified in other countries as influential in surgery access, including age at diagnosis, affected side, gender, years of education, socio-professional categories, and density of general practitioners in the residential area, in 293 consecutive French-native patients with refractory medial temporal lobe epilepsy and </span>hippocampal sclerosis<span> (MTLE-HS). Subsequently, we conducted a case-control study comparing patients born in France with 22 patients born abroad to specifically explore migratory status. The analysis revealed that the only three factors statistically influencing the delay between the onset of epilepsy and entry into video-EEG were early age at onset (associated with a longer delay), pensioner status (associated with a longer delay), and student status (associated with a shorter delay). Migratory status, gender, and socio-economic level (indirectly reflected by the level of education and socio-professional category) were not found to be discriminatory factors in access to video-EEG. Discrepancies between our study and foreign studies may be attributed to differences in healthcare systems and medical coverage among countries. Efforts in France to improve access to surgery should focus on enhancing communication among practitioners to promptly refer any MTLE-HS patient to an epilepsy surgery center, regardless of their age.</span></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":"141162065","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 : 2024-10-01Epub Date: 2024-05-17DOI: 10.1016/j.neurol.2024.04.005
A Hartmann, S Ansquer, C Brefel-Courbon, P Burbaud, A Castrioto, V Czernecki, P Damier, E Deniau, S Drapier, I Jalenques, O Marechal, T Priou, M Spodenkiewicz, S Thobois, A Roubertie, T Witjas, M Anheim
<p><p>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 ensur
{"title":"French guidelines for the diagnosis and management of Tourette syndrome.","authors":"A Hartmann, S Ansquer, C Brefel-Courbon, P Burbaud, A Castrioto, V Czernecki, P Damier, E Deniau, S Drapier, I Jalenques, O Marechal, T Priou, M Spodenkiewicz, S Thobois, A Roubertie, T Witjas, M Anheim","doi":"10.1016/j.neurol.2024.04.005","DOIUrl":"10.1016/j.neurol.2024.04.005","url":null,"abstract":"<p><p>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 ensur","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":"140958976","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.2023.08.011
According to recent findings, Phosphoglycerate Kinase 1 (pgk-1) enzyme is linked to Parkinson's disease (PD). Mutations in the PGK-1 gene lead to decreases in the pgk-1 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-1 enzyme, GLP-1, and A2A 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.
{"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<sub>2A</sub> 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":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":"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}
Pub Date : 2024-10-01DOI: 10.1016/j.neurol.2024.06.003
{"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":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":"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}
Pub Date : 2024-10-01DOI: 10.1016/j.neurol.2024.04.009
Background
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.
Methods
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.
Results
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.
Conclusion
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.
{"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":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":"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}
Pub Date : 2024-10-01DOI: 10.1016/j.neurol.2024.05.005
{"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":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":"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}
Pub Date : 2024-10-01DOI: 10.1016/j.neurol.2023.04.010
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.
{"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":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":"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}
Pub Date : 2024-10-01DOI: 10.1016/j.neurol.2024.04.007
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.
{"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":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":"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}
Pub Date : 2024-09-27DOI: 10.1016/j.neurol.2024.09.004
S Prange, S Thobois
Impulse control disorders (ICD) are frequent and cumbersome behavioral disorders in patients with Parkinson's disease (PD). Understanding their pathophysiological underpinnings is crucial. Molecular imaging using positron emission tomography (PET) and single-photon emission computed tomography (SPECT) clearly indicates preexisting vulnerability and abnormal sensitization of the pre- and postsynaptic dopaminergic system. Functional magnetic resonance imaging (fMRI) studies reveal abnormal connectivity within the reward system involving the ventral striatum and orbitofrontal cortex. These alterations pinpoint the dysfunction of reinforcement learning in ICD, which is biased toward the overvaluation of reward and underestimation of risk, and the deficit in inhibitory control mechanisms related to abnormal connectivity within and between the limbic and the associative and motor networks.
{"title":"Imaging of impulse control disorders in Parkinson's disease.","authors":"S Prange, S Thobois","doi":"10.1016/j.neurol.2024.09.004","DOIUrl":"https://doi.org/10.1016/j.neurol.2024.09.004","url":null,"abstract":"<p><p>Impulse control disorders (ICD) are frequent and cumbersome behavioral disorders in patients with Parkinson's disease (PD). Understanding their pathophysiological underpinnings is crucial. Molecular imaging using positron emission tomography (PET) and single-photon emission computed tomography (SPECT) clearly indicates preexisting vulnerability and abnormal sensitization of the pre- and postsynaptic dopaminergic system. Functional magnetic resonance imaging (fMRI) studies reveal abnormal connectivity within the reward system involving the ventral striatum and orbitofrontal cortex. These alterations pinpoint the dysfunction of reinforcement learning in ICD, which is biased toward the overvaluation of reward and underestimation of risk, and the deficit in inhibitory control mechanisms related to abnormal connectivity within and between the limbic and the associative and motor networks.</p>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142352997","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 : 2024-09-23DOI: 10.1016/j.neurol.2024.09.001
A San-Galli, H Chaumont, Q Bourgeois, J Roge, Q Lobjois, P Cabre
{"title":"Eculizumab as rescue therapy in a context of dramatic NMOSD attack: Report of two cases.","authors":"A San-Galli, H Chaumont, Q Bourgeois, J Roge, Q Lobjois, P Cabre","doi":"10.1016/j.neurol.2024.09.001","DOIUrl":"https://doi.org/10.1016/j.neurol.2024.09.001","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142352996","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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