Pub Date : 2024-12-01DOI: 10.1016/j.neurol.2023.09.005
Meriem Tazir , Sonia Nouioua
Distal hereditary motor neuropathies (dHMN) are a group of heterogeneous hereditary disorders characterized by a slowly progressive distal pure motor neuropathy. Electrophysiology, with normal motor and sensory conduction velocities, can suggest the diagnosis of dHMN and guide the genetic study. More than thirty genes are currently associated with HMNs, but around 60 to 70% of cases of dHMN remain uncharacterized genetically. Recent cohort studies showed that HSPB1, GARS, BICB2 and DNAJB2 are among the most frequent dHMN genes and that the prevalence of the disease was calculated as 2.14 and 2.3 per 100,000. The determination of the different genes involved in dHMNs made it possible to observe a genotypic overlap with some other neurogenetic disorders and other hereditary neuropathies such as CMT2, mainly with the HSPB1, HSPB8, BICD2 and TRPV4 genes of AD-inherited transmission and recently observed with SORD gene of AR transmission which seems relatively frequent and potentially curable. Distal hereditary motor neuropathy that predominates in the upper limbs is linked mainly to three genes: GARS, BSCL2 and REEP1, whereas dHMN with vocal cord palsy is associated with SLC5A7, DCTN1 and TRPV4 genes. Among the rare AR forms of dHMN like IGHMBP2 and DNAJB2, the SIGMAR1 gene mutations as well as VRK1 variants are associated with a motor neuropathy phenotype often associated with upper motoneuron involvement. The differential diagnosis of these latter arises with juvenile forms of amyotrophic lateral sclerosis, that could be caused also by variations of these genes, as well as hereditary spastic paraplegia. A differential diagnosis of dHMN related to Brown Vialetto Van Laere syndrome due to riboflavin transporter deficiency is important to consider because of the therapeutic possibility.
{"title":"Distal hereditary motor neuropathies","authors":"Meriem Tazir , Sonia Nouioua","doi":"10.1016/j.neurol.2023.09.005","DOIUrl":"10.1016/j.neurol.2023.09.005","url":null,"abstract":"<div><div><span>Distal hereditary motor neuropathies (dHMN) are a group of heterogeneous hereditary disorders characterized by a slowly progressive distal pure motor neuropathy. Electrophysiology, with normal motor and sensory conduction velocities, can suggest the diagnosis of dHMN<span> and guide the genetic study. More than thirty genes are currently associated with HMNs, but around 60 to 70% of cases of dHMN remain uncharacterized genetically. Recent cohort studies showed that </span></span><em>HSPB1</em>, <em>GARS</em>, <em>BICB2</em> and <em>DNAJB2</em> are among the most frequent dHMN genes and that the prevalence of the disease was calculated as 2.14 and 2.3 per 100,000. The determination of the different genes involved in dHMNs made it possible to observe a genotypic overlap with some other neurogenetic disorders and other hereditary neuropathies such as CMT2, mainly with the <em>HSPB1</em>, <em>HSPB8</em>, <em>BICD2</em> and <em>TRPV4</em> genes of AD-inherited transmission and recently observed with <span><span>SORD</span></span> gene of AR transmission which seems relatively frequent and potentially curable. Distal hereditary motor neuropathy that predominates in the upper limbs is linked mainly to three genes: <em>GARS</em>, <em>BSCL2</em> and <em>REEP1</em>, whereas dHMN with vocal cord palsy is associated with <em>SLC5A7</em>, <em>DCTN1</em> and <em>TRPV4</em> genes. Among the rare AR forms of dHMN like <em>IGHMBP2</em> and <em>DNAJB2</em>, the <em>SIGMAR1</em> gene mutations as well as <em>VRK1</em><span> variants are associated with a motor neuropathy phenotype often associated with upper motoneuron involvement. The differential diagnosis of these latter arises with juvenile forms of amyotrophic lateral sclerosis, that could be caused also by variations of these genes, as well as hereditary spastic paraplegia. A differential diagnosis of dHMN related to Brown Vialetto Van Laere syndrome due to riboflavin transporter deficiency is important to consider because of the therapeutic possibility.</span></div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 10","pages":"Pages 1031-1036"},"PeriodicalIF":2.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140857963","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 : 2024-12-01DOI: 10.1016/j.neurol.2024.07.001
V. Leclercq , J.-C. Corvol
Introduction
Parkinson's disease (PD) is a neurodegenerative disorder characterized by motor and non-motor symptoms, among which impulse control disorders behaviors (ICD) emerge as significant non-motor manifestations. ICD in PD patients, including pathological gambling, hypersexuality, compulsive buying, among others, lead to considerable impairment and reduced quality of life. This review aims to explore the multifaceted risk factors associated with ICD in PD patients, including clinical, pharmacological, and genetic aspects, to enhance early identification, prevention, and management strategies.
Methods
A comprehensive review of literature was conducted to identify studies investigating risk factors for ICD in PD. Data from clinical, pharmacological, and genetic studies were analyzed to elucidate the complex interplay of factors contributing to ICD development.
Results
Clinical risk factors such as young age, male gender, and specific personality traits were consistently associated with a higher incidence of ICD. Environmental factors such as cultural nuances and geographic location influence ICD prevalence. Disease characteristics include early PD onset, longer disease duration, motor fluctuations, anxiety, depression, sleep disorders, and apathy. Pharmaceutical risk factors involve dopaminergic drugs, with dopamine agonists showing a dose-dependent association with ICD. Genetic risk factors highlight the involvement of dopaminergic and serotoninergic systems, with various neurotransmitter pathways implicated.
Conclusions
ICDs are common and severe in PD. Understanding the multifaceted risk factors for ICD in PD is crucial for identifying patients at high risk to develop these adverse effects and developing targeted interventions to prevent their occurrence. Given their frequency and potential consequences for the patient and their family, the current strategy is to systematically screen for ICDs throughout patient follow-up, particularly when prescribing dopamine agonists.
{"title":"Impulse control disorder: Review on clinical, pharmacologic, and genetic risk factors","authors":"V. Leclercq , J.-C. Corvol","doi":"10.1016/j.neurol.2024.07.001","DOIUrl":"10.1016/j.neurol.2024.07.001","url":null,"abstract":"<div><h3>Introduction</h3><div>Parkinson's disease (PD) is a neurodegenerative disorder characterized by motor and non-motor symptoms, among which impulse control disorders behaviors (ICD) emerge as significant non-motor manifestations. ICD in PD patients, including pathological gambling, hypersexuality, compulsive buying, among others, lead to considerable impairment and reduced quality of life. This review aims to explore the multifaceted risk factors associated with ICD in PD patients, including clinical, pharmacological, and genetic aspects, to enhance early identification, prevention, and management strategies.</div></div><div><h3>Methods</h3><div>A comprehensive review of literature was conducted to identify studies investigating risk factors for ICD in PD. Data from clinical, pharmacological, and genetic studies were analyzed to elucidate the complex interplay of factors contributing to ICD development.</div></div><div><h3>Results</h3><div>Clinical risk factors such as young age, male gender, and specific personality traits were consistently associated with a higher incidence of ICD. Environmental factors such as cultural nuances and geographic location influence ICD prevalence. Disease characteristics include early PD onset, longer disease duration, motor fluctuations, anxiety, depression, sleep disorders, and apathy. Pharmaceutical risk factors involve dopaminergic drugs, with dopamine agonists showing a dose-dependent association with ICD. Genetic risk factors highlight the involvement of dopaminergic and serotoninergic systems, with various neurotransmitter pathways implicated.</div></div><div><h3>Conclusions</h3><div>ICDs are common and severe in PD. Understanding the multifaceted risk factors for ICD in PD is crucial for identifying patients at high risk to develop these adverse effects and developing targeted interventions to prevent their occurrence. Given their frequency and potential consequences for the patient and their family, the current strategy is to systematically screen for ICDs throughout patient follow-up, particularly when prescribing dopamine agonists.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 10","pages":"Pages 1071-1077"},"PeriodicalIF":2.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142126573","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 : 2024-12-01DOI: 10.1016/j.neurol.2024.06.002
J.-J. Hauw , C. Hausser-Hauw , C. Barthélémy
Aim
An update on the plasticity of the brain networks involved in autism (autism spectrum disorders [ASD]), and the increasing role of their synapses and primary non-motile cilia.
Methods
Data from PubMed and Google on this subject, published until February 2024, were analyzed.
Results
Structural and functional brain characteristics and genetic particularities involving synapses and cilia that modify neuronal circuits are observed in ASD, such as reduced pruning of dendrites, minicolumnar pathology, or persistence of connections usually doomed to disappear. Proteins involved in synapse functions (such as neuroligins and neurexins), in the postsynaptic architectural scaffolding (such as Shank proteins) or in cilia functions (such as IFT-independent kinesins) are often abnormal. There is an increase in glutaminergic transmission and a decrease in GABA inhibition. ASD may occur in genetic ciliopathies. The means of modulating these specificities, when deemed useful, are described.
Interpretation
The wide range of clinical manifestations of ASD is strongly associated with abnormalities in the morphology, functions, and plasticity of brain networks, involving their synapses and non-motile cilia. Their modulation offers important research perspectives on treatments when needed, especially since brain plasticity persists much later than previously thought. Improved early detection of ASD and additional studies on synapses and primary cilia are needed.
{"title":"Synapse and primary cilia dysfunctions in Autism Spectrum Disorders. Avenues to normalize these functions","authors":"J.-J. Hauw , C. Hausser-Hauw , C. Barthélémy","doi":"10.1016/j.neurol.2024.06.002","DOIUrl":"10.1016/j.neurol.2024.06.002","url":null,"abstract":"<div><h3>Aim</h3><div>An update on the plasticity of the brain networks<span> involved in autism (autism spectrum disorders [ASD]), and the increasing role of their synapses and primary non-motile cilia.</span></div></div><div><h3>Methods</h3><div>Data from PubMed and Google on this subject, published until February 2024, were analyzed.</div></div><div><h3>Results</h3><div>Structural and functional brain characteristics and genetic particularities involving synapses and cilia that modify neuronal circuits are observed in ASD, such as reduced pruning of dendrites, minicolumnar pathology, or persistence of connections usually doomed to disappear. Proteins involved in synapse functions (such as neuroligins<span><span> and neurexins), in the postsynaptic architectural scaffolding (such as Shank proteins) or in cilia functions (such as IFT-independent kinesins) are often abnormal. There is an increase in glutaminergic transmission and a decrease in GABA inhibition. ASD may occur in genetic </span>ciliopathies. The means of modulating these specificities, when deemed useful, are described.</span></div></div><div><h3>Interpretation</h3><div><span>The wide range of clinical manifestations of ASD is strongly associated with abnormalities in the morphology, functions, and plasticity of brain networks, involving their synapses and non-motile cilia. Their modulation offers important research perspectives on treatments when needed, especially since brain plasticity persists much later than previously thought. Improved early detection of ASD and additional studies on synapses and </span>primary cilia are needed.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 10","pages":"Pages 1059-1070"},"PeriodicalIF":2.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459017","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 : 2024-12-01DOI: 10.1016/j.neurol.2024.06.006
H. Catenoix , K. Decaestecker , M. Hermier , M. Chochoi , V. Guinet , A. Montavont , J. Isnard , S. Boulogne , W. Szurhaj , C. Haegelen , N. Reyns , M. Guenot , P. Derambure , J. Jung , S. Rheims
Objectives
In patients with mesial temporal lobe epilepsy (mTLE) and normal MRI, anterior temporal lobectomy sparing the hippocampus might be considered because of the risk of post-operative memory deficit. However, it is unclear whether some patients with normal MRI and non-invasive EEG and semiological pattern highly suggestive of mesial temporal seizures demonstrate a seizure onset network sparing the hippocampus, potentially warranting surgery.
Methods
A retrospective study of 17 patients with mTLE epilepsy and normal MRI who underwent SEEG. Only patients whose non-invasive presurgical data suggested an unilateral mesial temporal epileptogenic zone (EZ), as defined by combination of ictal semiology and ictal EEG during scalp video-EEG, were included. SEEG data were analyzed using both visual and quantitative approaches. Two EZ organization were defined: (i) EZ involved the hippocampus at the onset of the ictal discharge (HIP group): (ii) patients in whom a delay > 1 sec was observed between the seizure onset and the involvement of the hippocampus (nHIP group). Non-invasive clinical and functional imaging data, as well as post-operative outcomes, were compared across groups.
Results
Eleven patients were included in HIP group and 6 in the nHIP group. In the nHIP group, the maximal epileptogenicity was in the amygdala in five patients and in the entorhinal cortex in one. The hippocampus normalized interictal spiking activity was not different between groups. None of the patients characteristics collected during the non-invasive presurgical workup was associated with the SEEG-based organization of the EZ. Twelve patients underwent a surgical resection, including temporal cortectomy sparing hippocampus in six. Seizure and neuropsychological post-operative outcomes were similar.
Conclusion
In patients with MRI-normal mTLE, SEEG should be included in the surgical decision-making process because seizure organization cannot be predicted from non-invasive investigations. When hippocampus is not included in the EZ, temporal resection sparing the hippocampus can be considered.
目的:对于磁共振成像(MRI)正常的颞叶间叶癫痫(mTLE)患者,由于术后记忆缺失的风险,可能会考虑行颞叶前部切除术,但要保留海马。然而,目前尚不清楚的是,一些核磁共振成像正常、无创脑电图和符号学模式高度提示颞叶中叶癫痫发作的患者是否表现出癫痫发作网络,从而可能需要进行手术:对17名磁共振成像正常、接受SEEG检查的mTLE癫痫患者进行回顾性研究。只有非侵入性手术前数据显示单侧颞中叶致痫区(EZ)的患者才被纳入研究,该致痫区是由发作期半身像和发作期头皮视频脑电图共同定义的。采用视觉和定量方法对 SEEG 数据进行分析。定义了两种 EZ 组织:(i) EZ 在发作放电开始时涉及海马(HIP 组):(ii) 在发作开始和涉及海马之间观察到延迟>1 秒的患者(nHIP 组)。对各组的非侵入性临床和功能成像数据以及术后结果进行比较:结果:11 名患者被纳入 HIP 组,6 名被纳入 nHIP 组。在 nHIP 组中,5 名患者的最大致痫区在杏仁核,1 名患者的最大致痫区在内侧皮层。海马正常化发作间期尖峰活动在各组之间没有差异。在非侵入性手术前检查中收集的患者特征均与基于 SEEG 的 EZ 组织无关。12 名患者接受了手术切除,其中 6 人接受了颞叶皮质切除术,保留了海马。癫痫发作和神经心理学术后结果相似:结论:对于磁共振成像正常的mTLE患者,手术决策过程中应包括SEEG,因为非侵入性检查无法预测发作组织。结论:对于磁共振成像正常的 mTLE 患者,手术决策过程中应包括 SEEG,因为非侵入性检查无法预测发作组织。如果 EZ 中不包括海马,则可考虑颞叶切除,但要保留海马。
{"title":"The role of SEEG in the presurgical decision-making process in MRI-normal mesial temporal lobe epilepsy","authors":"H. Catenoix , K. Decaestecker , M. Hermier , M. Chochoi , V. Guinet , A. Montavont , J. Isnard , S. Boulogne , W. Szurhaj , C. Haegelen , N. Reyns , M. Guenot , P. Derambure , J. Jung , S. Rheims","doi":"10.1016/j.neurol.2024.06.006","DOIUrl":"10.1016/j.neurol.2024.06.006","url":null,"abstract":"<div><h3>Objectives</h3><div>In patients with mesial temporal lobe epilepsy (mTLE) and normal MRI, anterior temporal lobectomy sparing the hippocampus might be considered because of the risk of post-operative memory deficit. However, it is unclear whether some patients with normal MRI and non-invasive EEG and semiological pattern highly suggestive of mesial temporal seizures demonstrate a seizure onset network sparing the hippocampus, potentially warranting surgery.</div></div><div><h3>Methods</h3><div>A retrospective study of 17 patients with mTLE epilepsy and normal MRI who underwent SEEG. Only patients whose non-invasive presurgical data suggested an unilateral mesial temporal epileptogenic zone (EZ), as defined by combination of ictal semiology and ictal EEG during scalp video-EEG, were included. SEEG data were analyzed using both visual and quantitative approaches. Two EZ organization were defined: (i) EZ involved the hippocampus at the onset of the ictal discharge (HIP group): (ii) patients in whom a delay<!--> <!-->><!--> <!-->1<!--> <!-->sec was observed between the seizure onset and the involvement of the hippocampus (nHIP group). Non-invasive clinical and functional imaging data, as well as post-operative outcomes, were compared across groups.</div></div><div><h3>Results</h3><div>Eleven patients were included in HIP group and 6 in the nHIP group. In the nHIP group, the maximal epileptogenicity was in the amygdala in five patients and in the entorhinal cortex in one. The hippocampus normalized interictal spiking activity was not different between groups. None of the patients characteristics collected during the non-invasive presurgical workup was associated with the SEEG-based organization of the EZ. Twelve patients underwent a surgical resection, including temporal cortectomy sparing hippocampus in six. Seizure and neuropsychological post-operative outcomes were similar.</div></div><div><h3>Conclusion</h3><div>In patients with MRI-normal mTLE, SEEG should be included in the surgical decision-making process because seizure organization cannot be predicted from non-invasive investigations. When hippocampus is not included in the EZ, temporal resection sparing the hippocampus can be considered.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 10","pages":"Pages 1128-1138"},"PeriodicalIF":2.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142111509","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 : 2024-12-01DOI: 10.1016/j.neurol.2023.12.012
J.-C. Antoine
Inflammatory sensory neuronopathies are rare disorders mediated by dysimmune mechanisms targeting sensory neurons in the dorsal root ganglia. They constitute a heterogeneous group of disorders with acute, subacute, or chronic courses, and occur with cancer, systemic autoimmune diseases, notably Sjögren syndrome, and viral infections but a noticeable proportion of them remains isolated. Identifying inflammatory sensory neuronopathies is crucial because they have the potential to be stabilized or even to improve with immunomodulatory or immunosuppressant treatments provided that the treatment is applied at an early stage of the disease, before a definitive degeneration of neurons. Biomarkers, and notably antibodies, are crucial for this early identification, which is the first step to develop therapeutic trials.
{"title":"Inflammatory sensory neuronopathies","authors":"J.-C. Antoine","doi":"10.1016/j.neurol.2023.12.012","DOIUrl":"10.1016/j.neurol.2023.12.012","url":null,"abstract":"<div><div>Inflammatory sensory neuronopathies are rare disorders mediated by dysimmune mechanisms targeting sensory neurons in the dorsal root ganglia. They constitute a heterogeneous group of disorders with acute, subacute, or chronic courses, and occur with cancer, systemic autoimmune diseases, notably Sjögren syndrome, and viral infections but a noticeable proportion of them remains isolated. Identifying inflammatory sensory neuronopathies is crucial because they have the potential to be stabilized or even to improve with immunomodulatory or immunosuppressant treatments provided that the treatment is applied at an early stage of the disease, before a definitive degeneration of neurons. Biomarkers, and notably antibodies, are crucial for this early identification, which is the first step to develop therapeutic trials.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 10","pages":"Pages 1037-1046"},"PeriodicalIF":2.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140111322","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 : 2024-12-01DOI: 10.1016/j.neurol.2024.02.394
D. Andriuta , M. Roussel , G. Chene , C. Fischer , J.-F. Mangin , B. Dubois , B. Vellas , F. Pasquier , F. Tison , F. Blanc , O. Hanon , C. Paquet , A. Gabelle , M. Ceccaldi , C. Annweiler , P. Krolak-Salmon , R. David , I. Rouch-Leroyer , A. Benetos , O. Moreaud , O. Godefroy
Background
The association between the pattern of cortical thickness (CT) and executive dysfunction (ED) in mild cognitive impairment (MCI) and subjective cognitive complaints (SCC) is still poorly understood. We aimed to investigate the association between CT and ED in a large French cohort (MEMENTO) of 2323 participants with MCI or SCC.
Methods
All participants with available CT and executive function data (verbal fluency and Trail Making Test [TMT]) were selected (n = 1924). Linear regressions were performed to determine relationships between executive performance and the brain parenchymal fraction (BPF) and CT using FreeSurfer.
Results
The global executive function score was related to the BPF (sß: 0.091, P < 0.001) and CT in the right supramarginal (sß: 0.060, P = 0.041) and right isthmus cingulate (sß: 0.062, P = 0.011) regions. Literal verbal fluency was related to the BPF (sß: 0.125, P < 0.001) and CT in the left parsorbitalis region (sß: 0.045, P = 0.045). Semantic verbal fluency was related to the BPF (sß: 0.101, P < 0.001) and CT in the right supramarginal region (sß: 0.061, P = 0.042). The time difference between the TMT parts B and A was related to the BPF (sß: 0.048, P = 0.045) and CT in the right precuneus (sß: 0.073, P = 0.019) and right isthmus cingulate region (sß: 0.054, P = 0.032).
Conclusions
In a large clinically based cohort of participants presenting with either MCI or SCC (a potential early stage of Alzheimer's disease [AD]), ED was related to the BPF and CT in the left pars orbitalis, right precuneus, right supramarginal, and right isthmus cingulate regions. This pattern of lesions adds knowledge to the conventional anatomy of ED and could contribute to the early diagnosis of AD.
{"title":"The pattern of cortical thickness associated with executive dysfunction in MCI and SCC: The MEMENTO cohort","authors":"D. Andriuta , M. Roussel , G. Chene , C. Fischer , J.-F. Mangin , B. Dubois , B. Vellas , F. Pasquier , F. Tison , F. Blanc , O. Hanon , C. Paquet , A. Gabelle , M. Ceccaldi , C. Annweiler , P. Krolak-Salmon , R. David , I. Rouch-Leroyer , A. Benetos , O. Moreaud , O. Godefroy","doi":"10.1016/j.neurol.2024.02.394","DOIUrl":"10.1016/j.neurol.2024.02.394","url":null,"abstract":"<div><h3>Background</h3><div><span>The association between the pattern of cortical thickness (CT) and executive dysfunction (ED) in </span>mild cognitive impairment (MCI) and subjective cognitive complaints (SCC) is still poorly understood. We aimed to investigate the association between CT and ED in a large French cohort (MEMENTO) of 2323 participants with MCI or SCC.</div></div><div><h3>Methods</h3><div><span>All participants with available CT and executive function data (verbal fluency and Trail Making Test [TMT]) were selected (</span><em>n</em> <!-->=<!--> <span>1924). Linear regressions<span> were performed to determine relationships between executive performance and the brain parenchymal fraction (BPF) and CT using FreeSurfer.</span></span></div></div><div><h3>Results</h3><div>The global executive function score was related to the BPF (sß: 0.091, <em>P</em> <!--><<!--> <!-->0.001) and CT in the right supramarginal (sß: 0.060, <em>P</em> <!-->=<!--> <!-->0.041) and right isthmus cingulate (sß: 0.062, <em>P</em> <!-->=<!--> <!-->0.011) regions. Literal verbal fluency was related to the BPF (sß: 0.125, <em>P</em> <!--><<!--> <!-->0.001) and CT in the left parsorbitalis region (sß: 0.045, <em>P</em> <!-->=<!--> <!-->0.045). Semantic verbal fluency was related to the BPF (sß: 0.101, <em>P</em> <!--><<!--> <!-->0.001) and CT in the right supramarginal region (sß: 0.061, <em>P</em> <!-->=<!--> <!-->0.042). The time difference between the TMT parts B and A was related to the BPF (sß: 0.048, <em>P</em> <!-->=<!--> <span>0.045) and CT in the right precuneus (sß: 0.073, </span><em>P</em> <!-->=<!--> <!-->0.019) and right isthmus cingulate region (sß: 0.054, <em>P</em> <!-->=<!--> <!-->0.032).</div></div><div><h3>Conclusions</h3><div><span><span>In a large clinically based cohort of participants presenting with either MCI or SCC (a potential early stage of Alzheimer's disease [AD]), ED was related to the BPF and CT in the left </span>pars orbitalis, right </span>precuneus<span><span>, right supramarginal, and right isthmus cingulate regions. This pattern of lesions adds knowledge to the conventional anatomy of ED and could contribute to the early </span>diagnosis of AD.</span></div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 10","pages":"Pages 1100-1107"},"PeriodicalIF":2.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141311600","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 : 2024-12-01DOI: 10.1016/j.neurol.2024.10.001
Nicolas Gaillard , Jean-Claude Deharo , Laurent Suissa , Pascal Defaye , Igor Sibon , Christophe Leclercq , Sonia Alamowitch , Céline Guidoux , Ariel Cohen , French Neurovascular Society, French Society of Cardiology
Atrial fibrillation (AF) is the primary cause of ischaemic stroke and transient ischaemic attack (TIA). AF is associated with a high risk of recurrence, which can be reduced using optimal prevention strategies, mainly anticoagulant therapy. The availability of effective prophylaxis justifies the need for a significant, coordinated and thorough transdisciplinary effort to screen for AF associated with stroke. A recent French national survey, initiated and supported by the Société française neurovasculaire (SFNV) and the Société française de cardiologie (SFC), revealed many shortcomings, such as the absence or inadequacy of telemetry equipment in more than half of stroke units, insufficient and highly variable access to monitoring tools, delays in performing screening tests, heterogeneous access to advanced or connected ambulatory monitoring techniques, and a lack of dedicated human resources. The present scientific document has been prepared on the initiative of the SFNV and the SFC with the aim of helping to address the current shortcomings and gaps, to promote efficient and cost-effective AF detection, and to improve and, where possible, homogenize the quality of practice in AF screening among stroke units and outpatient post-stroke care networks. The working group, composed of cardiologists and vascular neurologists who are experts in the field and are nominated by their peers, reviewed the literature to propose statements, which were discussed in successive cycles, and maintained, either by consensus or by vote, as appropriate. The text was then submitted to the SFNV and SFC board members for review. This scientific statement document argues for the widespread development of patient pathways to enable the most efficient AF screening after stroke. This assessment should be carried out by a multidisciplinary team, including expert cardiologists and vascular neurologists.
心房颤动(房颤)是缺血性中风和短暂性脑缺血发作(TIA)的主要原因。心房颤动具有很高的复发风险,而采用最佳预防策略(主要是抗凝疗法)可以降低复发风险。有效的预防措施的可用性证明,有必要开展一项重要、协调和彻底的跨学科工作,筛查与中风相关的房颤。最近,由法国神经血管协会(SFNV)和法国心脏病协会(SFC)发起并支持的一项法国全国性调查显示了许多不足之处,如超过半数的中风科室没有遥测设备或遥测设备不足、监测工具不足且使用情况参差不齐、筛查测试延迟、先进或联网的非卧床监测技术使用情况参差不齐,以及缺乏专门的人力资源。本科学文件由国家卒中筛查中心(SFNV)和国家急性心肌梗死筛查中心(SFC)共同编写,旨在帮助解决目前存在的不足和差距,促进高效、经济的心房颤动检测,提高并尽可能统一卒中单元和卒中后门诊护理网络的心房颤动筛查实践质量。工作组由该领域的心脏病专家和血管神经科专家组成,他们由同行提名,通过查阅文献提出声明,并在连续的周期内对声明进行讨论,根据情况以协商一致或投票的方式维持声明。声明文本随后提交给 SFNV 和 SFC 董事会成员审阅。本科学声明文件主张广泛制定患者路径,以便在卒中后进行最有效的房颤筛查。该评估应由包括心脏病专家和血管神经学家在内的多学科团队进行。
{"title":"Reprint of: Scientific statement from the French neurovascular and cardiac societies for improved detection of atrial fibrillation after ischaemic stroke and transient ischaemic attack","authors":"Nicolas Gaillard , Jean-Claude Deharo , Laurent Suissa , Pascal Defaye , Igor Sibon , Christophe Leclercq , Sonia Alamowitch , Céline Guidoux , Ariel Cohen , French Neurovascular Society, French Society of Cardiology","doi":"10.1016/j.neurol.2024.10.001","DOIUrl":"10.1016/j.neurol.2024.10.001","url":null,"abstract":"<div><div>Atrial fibrillation (AF) is the primary cause of ischaemic stroke and transient ischaemic attack (TIA). AF is associated with a high risk of recurrence, which can be reduced using optimal prevention strategies, mainly anticoagulant therapy. The availability of effective prophylaxis justifies the need for a significant, coordinated and thorough transdisciplinary effort to screen for AF associated with stroke. A recent French national survey, initiated and supported by the Société française neurovasculaire (SFNV) and the Société française de cardiologie (SFC), revealed many shortcomings, such as the absence or inadequacy of telemetry equipment in more than half of stroke units, insufficient and highly variable access to monitoring tools, delays in performing screening tests, heterogeneous access to advanced or connected ambulatory monitoring techniques, and a lack of dedicated human resources. The present scientific document has been prepared on the initiative of the SFNV and the SFC with the aim of helping to address the current shortcomings and gaps, to promote efficient and cost-effective AF detection, and to improve and, where possible, homogenize the quality of practice in AF screening among stroke units and outpatient post-stroke care networks. The working group, composed of cardiologists and vascular neurologists who are experts in the field and are nominated by their peers, reviewed the literature to propose statements, which were discussed in successive cycles, and maintained, either by consensus or by vote, as appropriate. The text was then submitted to the SFNV and SFC board members for review. This scientific statement document argues for the widespread development of patient pathways to enable the most efficient AF screening after stroke. This assessment should be carried out by a multidisciplinary team, including expert cardiologists and vascular neurologists.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 10","pages":"Pages 1000-1020"},"PeriodicalIF":2.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142605927","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 : 2024-12-01DOI: 10.1016/j.neurol.2024.05.006
L. Lucas , A. Georget , L. Rouxel , P. Briau , M. Couture , J.-S. Liegey , S. Debruxelles , M. Poli , S. Sagnier , P. Renou , S. Olindo , F. Rouanet , X. Maurin , A. Benard , I. Sibon
Introduction/background
Early identification of suspected stroke patients who might be eligible for a reperfusion strategy is a daily challenge in the management of patient referrals. The aim of this study was to evaluate the performance of a remote medical assessment in identifying patients eligible for endovascular therapy (EVT) while not eligible for intravenous thrombolysis (IVT), compared with a decision based on bedside clinico-radiological data.
Methods
Patients admitted to the emergency department for acute neurological symptoms lasting for less than 24h were prospectively included. Assessment of the clinical severity and medical history was performed simultaneously by two vascular neurologists (VNs), one remotely using a mobile telemedicine solution (NOMADEEC), the other at the bedside. RACE score was calculated from the NIHSS score. At the end of the evaluation, both VNs quoted their treatment convictions (IVT/EVT). Final therapeutic decision following brain and vascular imaging was recorded and compared to remote and bedside predictions. The performances of three different conditions were evaluated: complete medical evaluation (NIHSS + medical history), NIHSS score alone, and RACE score alone. Remote and bedside performances were also compared. Diagnostic accuracy parameters (sensitivity, specificity, positive and negative predictive values) of each condition were estimated, along with their two-sided 95% binomial confidence intervals.
Results
Out of 215 enrolled patients, 186 had a complete evaluation, 91 (54.3%) were diagnosed with an ischemic stroke or transient ischemic attack and 46 (24.7%) had an intracranial occlusion. Considering the three conditions evaluated remotely, RACE score-based decision provided the best sensitivity 54.6% [95% CI 23.4; 83.2]/specificity 80.6% [73.9; 86.2] combination. However, the complete medical evaluation had the best specificity (88.6% [82.9; 92.9] compared to RACE scores alone (P = 0.038). Remote and bedside performances did not differ (κ = 0.68 [0.59; 0.77]).
Discussion/conclusion
This real-life study performed in the setting of emergency demonstrates that remote medical evaluations including recording of extensive medical information and NIHSS examination to address patient's eligibility to revascularization treatment is swiftly feasible and is as effective as bedside prediction to EVT and/or IVT. Remote standardized medical evaluation might improve the decision of patients’ primary orientation and avoid overcrowding of comprehensive stroke centres.
{"title":"Remote neurological evaluation reliably identifies patients eligible to endovascular therapy while non-eligible to intravenous thrombolysis","authors":"L. Lucas , A. Georget , L. Rouxel , P. Briau , M. Couture , J.-S. Liegey , S. Debruxelles , M. Poli , S. Sagnier , P. Renou , S. Olindo , F. Rouanet , X. Maurin , A. Benard , I. Sibon","doi":"10.1016/j.neurol.2024.05.006","DOIUrl":"10.1016/j.neurol.2024.05.006","url":null,"abstract":"<div><h3>Introduction/background</h3><div>Early identification of suspected stroke patients who might be eligible for a reperfusion strategy is a daily challenge in the management of patient referrals. The aim of this study was to evaluate the performance of a remote medical assessment in identifying patients eligible for endovascular therapy (EVT) while not eligible for intravenous thrombolysis (IVT), compared with a decision based on bedside clinico-radiological data.</div></div><div><h3>Methods</h3><div><span><span>Patients admitted to the emergency department for acute </span>neurological symptoms lasting for less than 24</span> <span>h were prospectively included. Assessment of the clinical severity and medical history<span><span><span> was performed simultaneously by two vascular neurologists (VNs), one remotely using a mobile telemedicine solution (NOMADEEC), the other at the bedside. </span>RACE score was calculated from the </span>NIHSS score. At the end of the evaluation, both VNs quoted their treatment convictions (IVT/EVT). Final therapeutic decision following brain and vascular imaging was recorded and compared to remote and bedside predictions. The performances of three different conditions were evaluated: complete medical evaluation (NIHSS</span></span> <!-->+<!--> <!-->medical history), NIHSS score alone, and RACE score alone. Remote and bedside performances were also compared. Diagnostic accuracy parameters (sensitivity, specificity, positive and negative predictive values) of each condition were estimated, along with their two-sided 95% binomial confidence intervals.</div></div><div><h3>Results</h3><div><span><span>Out of 215 enrolled patients, 186 had a complete evaluation, 91 (54.3%) were diagnosed with an ischemic stroke or </span>transient ischemic attack and 46 (24.7%) had an intracranial occlusion. Considering the three conditions evaluated remotely, RACE score-based decision provided the best sensitivity 54.6% [95% CI 23.4; 83.2]/specificity 80.6% [73.9; 86.2] combination. However, the complete medical evaluation had the best specificity (88.6% [82.9; 92.9] compared to RACE scores alone (</span><em>P</em> <!-->=<!--> <!-->0.038). Remote and bedside performances did not differ (κ<!--> <!-->=<!--> <!-->0.68 [0.59; 0.77]).</div></div><div><h3>Discussion/conclusion</h3><div>This real-life study performed in the setting of emergency demonstrates that remote medical evaluations including recording of extensive medical information and NIHSS examination to address patient's eligibility to revascularization treatment is swiftly feasible and is as effective as bedside prediction to EVT and/or IVT. Remote standardized medical evaluation might improve the decision of patients’ primary orientation and avoid overcrowding of comprehensive stroke centres.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 10","pages":"Pages 1108-1116"},"PeriodicalIF":2.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141451406","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 : 2024-12-01DOI: 10.1016/j.neurol.2024.09.008
X. Moisset , G. Demarquay , S. de Gaalon , C. Roos , A. Donnet , P. Giraud , E. Guégan-Massardier , C. Lucas , J. Mawet , D. Valade , V. Corand , C. Gollion , N. Moreau , L. Grangeon , M. Lantéri-Minet , A. Ducros
The French migraine management recommendations were published in 2021. However, in the last three years, new data have come to light and new drugs have been approved (eptinezumab, rimegepant and atogepant) by the European Medicines Agency that require us to take a position on their use and to update certain elements of the recommendations. The first important message concerns the position of the French Headache Society on the use of preventive treatments (monoclonal antibodies and gepants) targeting the calcitonin gene-related peptide (CGRP) pathway. In terms of efficacy and safety, and as suggested by other national headache societies, these treatments can be offered as first-line treatment, although the scope defined by the French national health authority for possible reimbursement is limited to patients with severe migraine, at least eight headache days per month and for whom two previous preventive treatments have failed. Another important change concerns the position of topiramate as a preventive treatment for migraine in women of childbearing age. This treatment has been proposed as a first-line treatment for chronic migraine. However, recent pharmacovigilance data have highlighted a potential adverse effect on neurodevelopment in children exposed in utero. As a result, this treatment is formally contraindicated during pregnancy and must be used with extreme caution in women of childbearing age (effective contraception, no therapeutic alternative available and annual follow-up as with valproate). It can therefore no longer be offered as first-line treatment for women of childbearing age.
{"title":"Migraine treatment: Position paper of the French Headache Society","authors":"X. Moisset , G. Demarquay , S. de Gaalon , C. Roos , A. Donnet , P. Giraud , E. Guégan-Massardier , C. Lucas , J. Mawet , D. Valade , V. Corand , C. Gollion , N. Moreau , L. Grangeon , M. Lantéri-Minet , A. Ducros","doi":"10.1016/j.neurol.2024.09.008","DOIUrl":"10.1016/j.neurol.2024.09.008","url":null,"abstract":"<div><div>The French migraine management recommendations were published in 2021. However, in the last three years, new data have come to light and new drugs have been approved (eptinezumab, rimegepant and atogepant) by the European Medicines Agency that require us to take a position on their use and to update certain elements of the recommendations. The first important message concerns the position of the French Headache Society on the use of preventive treatments (monoclonal antibodies and gepants) targeting the calcitonin gene-related peptide (CGRP) pathway. In terms of efficacy and safety, and as suggested by other national headache societies, these treatments can be offered as first-line treatment, although the scope defined by the French national health authority for possible reimbursement is limited to patients with severe migraine, at least eight headache days per month and for whom two previous preventive treatments have failed. Another important change concerns the position of topiramate as a preventive treatment for migraine in women of childbearing age. This treatment has been proposed as a first-line treatment for chronic migraine. However, recent pharmacovigilance data have highlighted a potential adverse effect on neurodevelopment in children exposed in utero. As a result, this treatment is formally contraindicated during pregnancy and must be used with extreme caution in women of childbearing age (effective contraception, no therapeutic alternative available and annual follow-up as with valproate). It can therefore no longer be offered as first-line treatment for women of childbearing age.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 10","pages":"Pages 1087-1099"},"PeriodicalIF":2.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142473658","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}