首页 > 最新文献

Neurological Sciences最新文献

英文 中文
Cerebrospinal-fluid Orexin-A levels in different neurocognitive disorders: a comparison study. 不同神经认知障碍患者脑脊液食欲素a水平的比较研究
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-04-08 DOI: 10.1007/s10072-025-08148-0
Susana Lozano-Tovar, Riccardo Cremascoli, Marzia Nuccetelli, Giuseppe Sancesario, Stefania Cattaldo, Elisa Prina, Federico Verde, Simone Cappelli, Sergio Bernardini, Nicola Biagio Mercuri, Claudio Liguori

In the present study, we investigated the differences in cerebrospinal fluid (CSF) orexin-A levels among patients with different neurocognitive disorders, such as mild or moderate to severe Alzheimer's disease (AD; mAD, msAD, respectively), behavioral variants of frontotemporal dementia (bv-FTD), non-fluent primary aphasia (NFPA), and idiopathic normal pressure hydrocephalus (iNPH). A total of 214 participants were evaluated (mAD, 45; msAD, 31; bv-FTD, 12; NFPA, 22; iNPH, 13; non-demented elderly controls, 91). The highest CSF orexin-A levels were found in iNPH patients (263.31 ± 56.89 pg/mL). Patients affected by NFPA (210.86 ± 61.99 pg/mL), iNPH, and msAD (173.04 ± 19.76 pg/mL) showed higher CSF orexin-A concentrations than controls (145.18 ± 27.01pg/mL) (p < 0.001). Bv-FTD (190.12 ± 100.84 pg/mL) and mAD (130.76 ± 21.70 pg/mL) patients showed no significant differences in CSF orexin-A levels compared with controls. mAD patients showed also lower CSF orexin-A concentrations than all other patient groups.In conclusion, orexin-A presents different CSF levels among neurocognitive disorders. The mechanisms underlying this difference vary and may include sleep-wake cycle impairment, behavioral disturbances, and CSF dynamics. The development of drugs that antagonize the orexin system could open a new frontier of research linking orexin neurotransmission to neurocognitive disorders.

在本研究中,我们研究了不同神经认知障碍患者脑脊液(CSF) orexin-A水平的差异,如轻度或中重度阿尔茨海默病(AD);分别为mAD、msAD)、额颞叶痴呆(bv-FTD)、非流畅性原发性失语(NFPA)和特发性常压脑积水(iNPH)的行为变异。共有214名参与者被评估(mAD, 45;msAD, 31日;bv-FTD 12;美国22;iNPH 13;非痴呆老年人对照组,91岁)。脑脊液促食欲素- a水平在iNPH患者中最高(263.31±56.89 pg/mL)。NFPA组(210.86±61.99 pg/mL)、iNPH组(173.04±19.76 pg/mL)、msAD组(173.04±19.76 pg/mL)患者脑脊液食欲素- a浓度高于对照组(145.18±27.01pg/mL) (p
{"title":"Cerebrospinal-fluid Orexin-A levels in different neurocognitive disorders: a comparison study.","authors":"Susana Lozano-Tovar, Riccardo Cremascoli, Marzia Nuccetelli, Giuseppe Sancesario, Stefania Cattaldo, Elisa Prina, Federico Verde, Simone Cappelli, Sergio Bernardini, Nicola Biagio Mercuri, Claudio Liguori","doi":"10.1007/s10072-025-08148-0","DOIUrl":"https://doi.org/10.1007/s10072-025-08148-0","url":null,"abstract":"<p><p>In the present study, we investigated the differences in cerebrospinal fluid (CSF) orexin-A levels among patients with different neurocognitive disorders, such as mild or moderate to severe Alzheimer's disease (AD; mAD, msAD, respectively), behavioral variants of frontotemporal dementia (bv-FTD), non-fluent primary aphasia (NFPA), and idiopathic normal pressure hydrocephalus (iNPH). A total of 214 participants were evaluated (mAD, 45; msAD, 31; bv-FTD, 12; NFPA, 22; iNPH, 13; non-demented elderly controls, 91). The highest CSF orexin-A levels were found in iNPH patients (263.31 ± 56.89 pg/mL). Patients affected by NFPA (210.86 ± 61.99 pg/mL), iNPH, and msAD (173.04 ± 19.76 pg/mL) showed higher CSF orexin-A concentrations than controls (145.18 ± 27.01pg/mL) (p < 0.001). Bv-FTD (190.12 ± 100.84 pg/mL) and mAD (130.76 ± 21.70 pg/mL) patients showed no significant differences in CSF orexin-A levels compared with controls. mAD patients showed also lower CSF orexin-A concentrations than all other patient groups.In conclusion, orexin-A presents different CSF levels among neurocognitive disorders. The mechanisms underlying this difference vary and may include sleep-wake cycle impairment, behavioral disturbances, and CSF dynamics. The development of drugs that antagonize the orexin system could open a new frontier of research linking orexin neurotransmission to neurocognitive disorders.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143811131","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}
引用次数: 0
Critical issues in the use of edaravone for the treatment of amyotrophic lateral sclerosis. 使用依达拉奉治疗肌萎缩性侧索硬化的关键问题。
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-04-08 DOI: 10.1007/s10072-025-08154-2
Hung Youl Seok

Edaravone, along with riluzole, is a key treatment for amyotrophic lateral sclerosis (ALS), with evidence supporting its efficacy in slowing disease progression, particularly in patients with early-stage ALS. Despite its approval and increasing clinical use, several critical questions about its use remain unanswered: Can edaravone be effective as monotherapy? Is it beneficial for patients who fall outside the inclusion criteria of pivotal trials? What is the optimal duration of treatment as ALS progresses? In addition, does edaravone provide clinical benefit to patients with familial ALS? Answering these questions is essential to optimize the use of edaravone in clinical practice and to further our understanding of its role in the treatment of ALS. This review synthesizes the current evidence to address these questions and identifies areas that require further investigation.

依达拉奉与利鲁唑是肌萎缩性侧索硬化症(ALS)的关键治疗药物,有证据支持其减缓疾病进展的功效,特别是对早期ALS患者。尽管依达拉奉获得批准,临床应用也越来越多,但关于其使用的几个关键问题仍未得到解答:依达拉奉作为单一疗法是否有效?它对不属于关键试验纳入标准的患者有益吗?随着渐冻症的进展,治疗的最佳时间是多久?另外,依达拉奉是否对家族性ALS患者有临床益处?回答这些问题对于优化依达拉奉在临床实践中的应用以及进一步了解其在治疗ALS中的作用至关重要。这篇综述综合了目前的证据来解决这些问题,并确定了需要进一步调查的领域。
{"title":"Critical issues in the use of edaravone for the treatment of amyotrophic lateral sclerosis.","authors":"Hung Youl Seok","doi":"10.1007/s10072-025-08154-2","DOIUrl":"https://doi.org/10.1007/s10072-025-08154-2","url":null,"abstract":"<p><p>Edaravone, along with riluzole, is a key treatment for amyotrophic lateral sclerosis (ALS), with evidence supporting its efficacy in slowing disease progression, particularly in patients with early-stage ALS. Despite its approval and increasing clinical use, several critical questions about its use remain unanswered: Can edaravone be effective as monotherapy? Is it beneficial for patients who fall outside the inclusion criteria of pivotal trials? What is the optimal duration of treatment as ALS progresses? In addition, does edaravone provide clinical benefit to patients with familial ALS? Answering these questions is essential to optimize the use of edaravone in clinical practice and to further our understanding of its role in the treatment of ALS. This review synthesizes the current evidence to address these questions and identifies areas that require further investigation.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143811147","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}
引用次数: 0
"Frog face and strangulated medulla": neuroimaging phenotype in a novel mutation in GFAP gene causing adult onset Alexander disease. “蛙脸和髓质勒死”:GFAP基因新突变导致成人发病亚历山大病的神经影像学表型。
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-04-08 DOI: 10.1007/s10072-025-08161-3
Sameer Peer, Arvinder Wander, Ramandeep Singh, Vikas Lakhanpal
{"title":"\"Frog face and strangulated medulla\": neuroimaging phenotype in a novel mutation in GFAP gene causing adult onset Alexander disease.","authors":"Sameer Peer, Arvinder Wander, Ramandeep Singh, Vikas Lakhanpal","doi":"10.1007/s10072-025-08161-3","DOIUrl":"https://doi.org/10.1007/s10072-025-08161-3","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143811128","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}
引用次数: 0
Impulse control and related behavioral disorders in Parkinson's disease. Risk factors, diagnosis, and management. Is there a possible role for non-invasive brain stimulation?
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-04-07 DOI: 10.1007/s10072-025-08151-5
Stefano Terruzzi, Lina Urh, Daniele Piscitelli, Mario Rosanova, Cecilia Perin

Parkinson's disease (PD) is a neurodegenerative disease characterized by motor and non-motor symptoms. Among the non-motor symptoms, Impulse Control Disorders (ICDs) and related behaviors (ICBs), severely affect patient's global health. Despite their psychosocial consequences, ICDs are underrecognized in PD because routine screening is still not common. The main risk factor for ICDs is the use of dopamine agonists (DAs). Therefore, the latest guidelines on ICDs management emphasize pharmacological adjustments. However, these approaches are not always feasible due to the recurrence or worsening of motor and/or non-motor symptoms. As a result, there is an urgent need to find alternative solutions for the management of PD-ICDs. Cognitive Behavioral Therapy (CBT) has shown promising results, improving not only patients' ICDs but also caregivers' well-being. Deep Brain Stimulation (DBS) seems instead effective for the motor symptoms of PD but is not indicated for ICDs. Finally, Non-Invasive Brain Stimulation (NIBS - namely, repetitive Transcranial Magnetic Stimulation and transcranial Direct Current Stimulation), has shown the potential to improve motor and cognitive symptoms in PD by targeting the supplementary motor area (SMA) and the dorsolateral prefrontal cortex. Preventative strategies considering demographic, clinical, genetic, and cognitive risk factors could help identify individuals at very high vs. low risk of developing ICDs. These strategies may assist clinicians in making informed drug choices in PD patients, prioritizing L-dopa for motor symptoms management and evaluating additional approaches such as NIBS to prevent ICDs. However high-quality studies remain lacking, and further controlled trials are necessary to validate the effectiveness of these approaches.

{"title":"Impulse control and related behavioral disorders in Parkinson's disease. Risk factors, diagnosis, and management. Is there a possible role for non-invasive brain stimulation?","authors":"Stefano Terruzzi, Lina Urh, Daniele Piscitelli, Mario Rosanova, Cecilia Perin","doi":"10.1007/s10072-025-08151-5","DOIUrl":"https://doi.org/10.1007/s10072-025-08151-5","url":null,"abstract":"<p><p>Parkinson's disease (PD) is a neurodegenerative disease characterized by motor and non-motor symptoms. Among the non-motor symptoms, Impulse Control Disorders (ICDs) and related behaviors (ICBs), severely affect patient's global health. Despite their psychosocial consequences, ICDs are underrecognized in PD because routine screening is still not common. The main risk factor for ICDs is the use of dopamine agonists (DAs). Therefore, the latest guidelines on ICDs management emphasize pharmacological adjustments. However, these approaches are not always feasible due to the recurrence or worsening of motor and/or non-motor symptoms. As a result, there is an urgent need to find alternative solutions for the management of PD-ICDs. Cognitive Behavioral Therapy (CBT) has shown promising results, improving not only patients' ICDs but also caregivers' well-being. Deep Brain Stimulation (DBS) seems instead effective for the motor symptoms of PD but is not indicated for ICDs. Finally, Non-Invasive Brain Stimulation (NIBS - namely, repetitive Transcranial Magnetic Stimulation and transcranial Direct Current Stimulation), has shown the potential to improve motor and cognitive symptoms in PD by targeting the supplementary motor area (SMA) and the dorsolateral prefrontal cortex. Preventative strategies considering demographic, clinical, genetic, and cognitive risk factors could help identify individuals at very high vs. low risk of developing ICDs. These strategies may assist clinicians in making informed drug choices in PD patients, prioritizing L-dopa for motor symptoms management and evaluating additional approaches such as NIBS to prevent ICDs. However high-quality studies remain lacking, and further controlled trials are necessary to validate the effectiveness of these approaches.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795793","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}
引用次数: 0
Two distinct phenotypes and a novel mutation in limb-girdle muscular dystrophy R7 telethonin-related patients from Thai neuromuscular center. 泰国神经肌肉中心肢腰肌营养不良症 R7 telethonin 相关患者的两种不同表型和一种新型突变。
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-04-07 DOI: 10.1007/s10072-025-08158-y
Tanitnun Paprad, Jakkrit Amornvit, Thippamas Pobsuk, Manasawan Santananukarn, Chamaiporn Taychargumpoo, Worawan Sirichana, Chupong Ittiwut, Rungnapa Ittiwut, Kanya Suphapeetiporn, Nath Pasutharnchat, Numphung Numkarunarunrote

Limb-girdle muscular dystrophy R7 telethonin-related (LGMDR7) is a rare autosomal recessive disorder caused by TCAP gene mutations. This study described the phenotypic spectrum, genetic characteristics, and muscle magnetic resonance imaging (MRI) findings of patients with LGMDR7. Five patients from three unrelated families with TCAP mutations were retrospectively identified at the Neuromuscular Center at King Chulalongkorn Memorial Hospital. Demographic, clinical, laboratory, and muscle MRI data were collected and analyzed. We observed a mild phenotype associated with asymptomatic/paucisymptomatic hyperCKemia in one family and a classic limb-girdle muscular dystrophy phenotype in two unrelated patients. The novel deletion variant c.136_137del was identified in a compound heterozygous state with c.26_33dup in a family with a mild phenotype. Muscle MRI of four patients revealed consistent sparing of the sartorius muscle in all patients. This study expands the clinical and genetic spectrum of LGMDR7 by demonstrating an asymptomatic/paucisymptomatic hyperCKemia phenotype and identifying the novel c.136_137del variant. The muscle MRI findings highlight a characteristic pattern in which the sartorius muscle is consistently uninvolved. These findings contribute to a better understanding of the disease and assist in developing future diagnostic strategies for affected individuals, specifically by using clinical profiles in conjunction with the characteristics of muscle MRI.

{"title":"Two distinct phenotypes and a novel mutation in limb-girdle muscular dystrophy R7 telethonin-related patients from Thai neuromuscular center.","authors":"Tanitnun Paprad, Jakkrit Amornvit, Thippamas Pobsuk, Manasawan Santananukarn, Chamaiporn Taychargumpoo, Worawan Sirichana, Chupong Ittiwut, Rungnapa Ittiwut, Kanya Suphapeetiporn, Nath Pasutharnchat, Numphung Numkarunarunrote","doi":"10.1007/s10072-025-08158-y","DOIUrl":"https://doi.org/10.1007/s10072-025-08158-y","url":null,"abstract":"<p><p>Limb-girdle muscular dystrophy R7 telethonin-related (LGMDR7) is a rare autosomal recessive disorder caused by TCAP gene mutations. This study described the phenotypic spectrum, genetic characteristics, and muscle magnetic resonance imaging (MRI) findings of patients with LGMDR7. Five patients from three unrelated families with TCAP mutations were retrospectively identified at the Neuromuscular Center at King Chulalongkorn Memorial Hospital. Demographic, clinical, laboratory, and muscle MRI data were collected and analyzed. We observed a mild phenotype associated with asymptomatic/paucisymptomatic hyperCKemia in one family and a classic limb-girdle muscular dystrophy phenotype in two unrelated patients. The novel deletion variant c.136_137del was identified in a compound heterozygous state with c.26_33dup in a family with a mild phenotype. Muscle MRI of four patients revealed consistent sparing of the sartorius muscle in all patients. This study expands the clinical and genetic spectrum of LGMDR7 by demonstrating an asymptomatic/paucisymptomatic hyperCKemia phenotype and identifying the novel c.136_137del variant. The muscle MRI findings highlight a characteristic pattern in which the sartorius muscle is consistently uninvolved. These findings contribute to a better understanding of the disease and assist in developing future diagnostic strategies for affected individuals, specifically by using clinical profiles in conjunction with the characteristics of muscle MRI.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803803","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}
引用次数: 0
"Hair-on-end" appearance in thickened cortex in a case of classic lissencephaly due to DCX gene mutation. 一例因 DCX 基因突变导致的典型无脑畸形病例,其增厚的大脑皮层中出现了 "末端毛发"。
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-04-07 DOI: 10.1007/s10072-025-08163-1
Sameer Peer, Arvinder Wander, Ankit Kumar Meena

X-linked lissencephaly is associated with a hemizygous mutation in DCX gene located on the X-chromosome. DCX mutation causes classic lissencephaly in males and subcortical laminar heterotopia in females. Neuronal migration arrest leads to pachygyria and the arrested neurons are noted along the path of neuronal migration between the periventricular region and the cortex. Diffusion tensor imaging in cases of lissencephaly shows abnormal radial arrangement of fibers within the cortex in a "hairon-end" pattern. We demonstrate this "hair-on-end" pattern of fibers within the thickened cortex in a case of lissencephaly due to a pathogenic mutation in DCX gene confirmed on next generation whole exome sequencing.

X 连锁无脑畸形与位于 X 染色体上的 DCX 基因的半杂合子突变有关。DCX 基因突变会导致男性出现典型的无脑畸形,而女性则会出现皮层下异位症。神经元迁移停滞导致畸形,停滞的神经元沿着脑室周围和皮层之间的神经元迁移路径移动。脑裂病例的弥散张量成像显示,皮层内的纤维呈 "毛发末端 "模式的放射状异常排列。我们在一例因 DCX 基因致病性突变而导致的无脑畸形病例中展示了增厚皮层内纤维的 "发端-发端 "模式,该突变已在下一代全外显子组测序中得到证实。
{"title":"\"Hair-on-end\" appearance in thickened cortex in a case of classic lissencephaly due to DCX gene mutation.","authors":"Sameer Peer, Arvinder Wander, Ankit Kumar Meena","doi":"10.1007/s10072-025-08163-1","DOIUrl":"https://doi.org/10.1007/s10072-025-08163-1","url":null,"abstract":"<p><p>X-linked lissencephaly is associated with a hemizygous mutation in DCX gene located on the X-chromosome. DCX mutation causes classic lissencephaly in males and subcortical laminar heterotopia in females. Neuronal migration arrest leads to pachygyria and the arrested neurons are noted along the path of neuronal migration between the periventricular region and the cortex. Diffusion tensor imaging in cases of lissencephaly shows abnormal radial arrangement of fibers within the cortex in a \"hairon-end\" pattern. We demonstrate this \"hair-on-end\" pattern of fibers within the thickened cortex in a case of lissencephaly due to a pathogenic mutation in DCX gene confirmed on next generation whole exome sequencing.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143796026","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}
引用次数: 0
Enhancing postural control in stroke patients: advances in mechanisms and functional recovery analysis of core stability training. 加强中风患者的姿势控制:核心稳定性训练的机制和功能恢复分析进展。
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-04-07 DOI: 10.1007/s10072-025-08119-5
Tingyu Zhang, Jiejiao Zheng

Stroke remains the primary cause of mortality and morbidity in the adult population in China. Postural control dysfunction is a significant and persistent issue commonly observed in stroke patients. Core stability training has been shown to improve postural control in stroke patients, but the accuracy and efficacy of subjective scales used to assess the quality of resulting improvements remain uncertain. The first part of this manuscript reviews the origins and development of core stability training. The second part provides a brief examination of the mechanism by which core stability training affects postural control in post-stroke individuals. The third part reviews the functional recovery outcomes of core stability training as assessed through instrumental gait analysis, with gait spatio-temporal and kinematic parameters enhancing motor control, center of gravity trajectory and kinetic parameters enhancing postural stability, and electromyographic activity parameters enhancing neuromuscular recovery of core muscle groups.

在中国,脑卒中仍然是导致成人死亡和发病的主要原因。体位控制功能障碍是脑卒中患者常见的一个重要而持久的问题。核心稳定性训练已被证明可以改善中风患者的姿势控制,但用于评估结果改善质量的主观量表的准确性和有效性仍不确定。本文的第一部分回顾了核心稳定性训练的起源和发展。第二部分简要介绍了核心稳定性训练对脑卒中后个体体位控制的影响机制。第三部分回顾了通过仪器步态分析评估的核心稳定性训练的功能恢复结果,步态时空和运动学参数增强运动控制,重心轨迹和动力学参数增强姿势稳定性,肌电活动参数增强核心肌群的神经肌肉恢复。
{"title":"Enhancing postural control in stroke patients: advances in mechanisms and functional recovery analysis of core stability training.","authors":"Tingyu Zhang, Jiejiao Zheng","doi":"10.1007/s10072-025-08119-5","DOIUrl":"https://doi.org/10.1007/s10072-025-08119-5","url":null,"abstract":"<p><p>Stroke remains the primary cause of mortality and morbidity in the adult population in China. Postural control dysfunction is a significant and persistent issue commonly observed in stroke patients. Core stability training has been shown to improve postural control in stroke patients, but the accuracy and efficacy of subjective scales used to assess the quality of resulting improvements remain uncertain. The first part of this manuscript reviews the origins and development of core stability training. The second part provides a brief examination of the mechanism by which core stability training affects postural control in post-stroke individuals. The third part reviews the functional recovery outcomes of core stability training as assessed through instrumental gait analysis, with gait spatio-temporal and kinematic parameters enhancing motor control, center of gravity trajectory and kinetic parameters enhancing postural stability, and electromyographic activity parameters enhancing neuromuscular recovery of core muscle groups.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143796027","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}
引用次数: 0
Inter- and intra-familial phenotypic variability of autosomal dominant collagen VI related disorder.
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-04-07 DOI: 10.1007/s10072-025-08124-8
Chaoping Hu, Yiyun Shi, Lei Zhao, Shuizhen Zhou, Yi Wang, Xihua Li, Lifei Yu

Background: Collagen VI-related disorder (COL6-RD) is an inherited neuromuscular disease characterized by a broad spectrum of phenotypes.

Patients and methods: Eight families with autosomal dominant COL6-RD were recruited. Clinical manifestations, laboratory findings, electrophysiological results, molecular analyses, and pathological outcomes of eight index patients and their affected family members were systematically collected and reviewed.

Results: Pathogenic variants were identified in four families in the COL6A1 gene, one family in the COL6A2 gene, and three families in the COL6A3 gene. Among the index patients, three were classified as moderate progressive Ullrich congenital muscular dystrophy (UCMD), four exhibited mild UCMD or Bethlem myopathy, and one was diagnosed with Bethlem myopathy. The phenotypic presentation was relatively consistent within four families. However, intra-familial phenotypic variability was observed in four families, encompassing a wide range of onset ages, patterns and degrees of muscle weakness, rates of contracture progression, severity of skin changes, and age at loss of ambulation.

Conclusion: Inter- and intra-familial phenotypic variability is prevalent in autosomal dominant COL6-RDs. When predicting the clinical course and severity for patients, it is crucial to integrate a comprehensive set of information, including mutation sites and types, family history, and early presenting features.

{"title":"Inter- and intra-familial phenotypic variability of autosomal dominant collagen VI related disorder.","authors":"Chaoping Hu, Yiyun Shi, Lei Zhao, Shuizhen Zhou, Yi Wang, Xihua Li, Lifei Yu","doi":"10.1007/s10072-025-08124-8","DOIUrl":"https://doi.org/10.1007/s10072-025-08124-8","url":null,"abstract":"<p><strong>Background: </strong>Collagen VI-related disorder (COL6-RD) is an inherited neuromuscular disease characterized by a broad spectrum of phenotypes.</p><p><strong>Patients and methods: </strong>Eight families with autosomal dominant COL6-RD were recruited. Clinical manifestations, laboratory findings, electrophysiological results, molecular analyses, and pathological outcomes of eight index patients and their affected family members were systematically collected and reviewed.</p><p><strong>Results: </strong>Pathogenic variants were identified in four families in the COL6A1 gene, one family in the COL6A2 gene, and three families in the COL6A3 gene. Among the index patients, three were classified as moderate progressive Ullrich congenital muscular dystrophy (UCMD), four exhibited mild UCMD or Bethlem myopathy, and one was diagnosed with Bethlem myopathy. The phenotypic presentation was relatively consistent within four families. However, intra-familial phenotypic variability was observed in four families, encompassing a wide range of onset ages, patterns and degrees of muscle weakness, rates of contracture progression, severity of skin changes, and age at loss of ambulation.</p><p><strong>Conclusion: </strong>Inter- and intra-familial phenotypic variability is prevalent in autosomal dominant COL6-RDs. When predicting the clinical course and severity for patients, it is crucial to integrate a comprehensive set of information, including mutation sites and types, family history, and early presenting features.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795795","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}
引用次数: 0
Clinical and radiological activity after extended interval and standard interval dosing of ocrelizumab in multiple sclerosis: A systematic review and meta-analysis. 多发性硬化症患者延长间隔用药和标准间隔用药后的临床和放射学活性:系统综述和荟萃分析。
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-04-04 DOI: 10.1007/s10072-025-08098-7
Mahsa Ghajarzadeh, Mohsen Rastkar, Ellen M Mowry, Bardia Nourbakhsh

Background: Ocrelizumab is an anti-CD20 monoclonal antibody that is highly effective in reducing MS clinical and radiological activity. The standard dosing regimen consists of infusing 600 mg of ocrelizumab every six months. However, concerns about increasing risks of infection and lowered vaccine response, particularly during the COVID-19 pandemic, prompted clinicians to extend the dosing interval between ocrelizumab infusions for some patients. Several observational studies have compared the effects of extended-interval dosing (EID) and standardinterval dosing (SID) of ocrelizumab on MS relapse rate and MRI activity.  METHOD: We performed a systematic review and meta-analysis of the current literature to summarize studies comparing ocrelizumab EID and SID on MS disease activity in patients with MS. Two independent reviewers searched PubMed, Scopus, EMBASE, Web of Science, and Google Scholar on the 1st of June 2024.

Results: Our systematic search revealed 348 records, and after deleting duplicates, 29 records remained. Twenty-eight full texts were evaluated; ultimately, 16 studies remained for systematic review. In this meta-analysis, extended interval dosing (EID) was defined variably across studies, with some considering even a one-month delay as EID. The pooled odds ratios (ORs) for clinical and MRI activity, comparing ocrelizumab EID to SID groups, were estimated as 1.04 (95%CI: 0.67-1.6, I2=30%, P=0.21) and 1.31(95%CI: 0.90-1.92) (I2=15%, P=0.32), respectively.  CONCLUSION: This systematic review and meta-analysis suggest that ocrelizumab EID is not associated with greater odds of clinical and radiological disease activity in patients with MS.

背景:奥克雷珠单抗是一种抗 CD20 单克隆抗体,在降低多发性硬化症的临床和放射学活动方面非常有效。标准给药方案包括每六个月输注 600 毫克奥柯利珠单抗。然而,由于担心感染风险增加和疫苗反应降低,特别是在 COVID-19 大流行期间,临床医生延长了部分患者输注奥柯利珠单抗的间隔时间。有几项观察性研究比较了延长间隔给药(EID)和标准间隔给药(SID)对多发性硬化复发率和磁共振成像活动的影响。 方法:我们对现有文献进行了系统性回顾和荟萃分析,总结了比较奥柯利珠单抗 EID 和 SID 对多发性硬化症患者疾病活动性影响的研究。两位独立审稿人于 2024 年 6 月 1 日检索了 PubMed、Scopus、EMBASE、Web of Science 和 Google Scholar:我们的系统性检索发现了 348 条记录,删除重复记录后,还剩下 29 条记录。我们对 28 篇全文进行了评估,最终剩下 16 篇研究进行了系统综述。在这项荟萃分析中,各研究对延长间隔给药(EID)的定义不尽相同,有些研究甚至将延迟一个月也视为 EID。将奥克雷珠单抗 EID 组与 SID 组进行比较,临床和 MRI 活动性的汇总几率比(ORs)分别估计为 1.04(95%CI:0.67-1.6,I2=30%,P=0.21)和 1.31(95%CI:0.90-1.92)(I2=15%,P=0.32)。 结论:该系统综述和荟萃分析表明,奥克雷珠单抗 EID 与多发性硬化症患者临床和放射学疾病活动几率增加无关。
{"title":"Clinical and radiological activity after extended interval and standard interval dosing of ocrelizumab in multiple sclerosis: A systematic review and meta-analysis.","authors":"Mahsa Ghajarzadeh, Mohsen Rastkar, Ellen M Mowry, Bardia Nourbakhsh","doi":"10.1007/s10072-025-08098-7","DOIUrl":"https://doi.org/10.1007/s10072-025-08098-7","url":null,"abstract":"<p><strong>Background: </strong>Ocrelizumab is an anti-CD20 monoclonal antibody that is highly effective in reducing MS clinical and radiological activity. The standard dosing regimen consists of infusing 600 mg of ocrelizumab every six months. However, concerns about increasing risks of infection and lowered vaccine response, particularly during the COVID-19 pandemic, prompted clinicians to extend the dosing interval between ocrelizumab infusions for some patients. Several observational studies have compared the effects of extended-interval dosing (EID) and standardinterval dosing (SID) of ocrelizumab on MS relapse rate and MRI activity.  METHOD: We performed a systematic review and meta-analysis of the current literature to summarize studies comparing ocrelizumab EID and SID on MS disease activity in patients with MS. Two independent reviewers searched PubMed, Scopus, EMBASE, Web of Science, and Google Scholar on the 1st of June 2024.</p><p><strong>Results: </strong>Our systematic search revealed 348 records, and after deleting duplicates, 29 records remained. Twenty-eight full texts were evaluated; ultimately, 16 studies remained for systematic review. In this meta-analysis, extended interval dosing (EID) was defined variably across studies, with some considering even a one-month delay as EID. The pooled odds ratios (ORs) for clinical and MRI activity, comparing ocrelizumab EID to SID groups, were estimated as 1.04 (95%CI: 0.67-1.6, I2=30%, P=0.21) and 1.31(95%CI: 0.90-1.92) (I2=15%, P=0.32), respectively.  CONCLUSION: This systematic review and meta-analysis suggest that ocrelizumab EID is not associated with greater odds of clinical and radiological disease activity in patients with MS.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780737","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}
引用次数: 0
Short neck as a cause of stroke? Bilateral vertebral artery dissection in a patient with Klippel-Feil Syndrome.
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-04-04 DOI: 10.1007/s10072-025-08157-z
Laura Del Pino Tejado, Marta Vales Montero, Ana María Iglesias Mohedano, Andrés García Pastor, Fernando Díaz Otero, Pilar Vázquez Alén, Yolanda Fernández Bullido, Antonio Gil Núñez

Vertebral dissections are a recognized cause of stroke in young people. Its association with Klippel-Feil Syndrome (KFS) is unusual. We describe the case of a male with simultaneous bilateral vertebral artery dissection with SKF and review the related literature. A 30-year-old male, with no relevant medical history, was transferred to the hospital with code stroke due to dizziness, dysarthria and clumsiness of the right limbs of sudden onset. Eight days prior, he had experienced intense right-sided neck pain after making a sudden neck turn while playing football, which persisted over the days. Phenotypically, he had a noticeable short neck. A cranial CT scan showed an acute right cerebellar infarction and an AngioCT scan showed bilateral vertebral artery dissection. An MRI revealed vertebral artery wall signal hyperintensity, compatible with intramural hematoma. The findings were confirmed by arteriography. Fusion of the cervical vertebrae C2-C3 compatible with SKF was observed at the same level where both dissections were observed. The patient was discharged asymptomatic with antiplatelet treatment. He received single antiplatelet therapy with 100 mg aspirin, remaining stable without recurrences. A follow-up MR angiogram showed resolution of the lesions after 3 months. SKF is a rare malformation consisting of a triad of fusion of cervical vertebrae, short neck and low hairline implantation. Its association with stroke is scarce and there are few descriptions of cases, none with bilateral dissection.

椎体断裂是公认的导致年轻人中风的原因之一。它与克利珀尔-费尔综合征(Klippel-Feil Syndrome,KFS)的关联并不常见。我们描述了一例同时伴有双侧椎动脉夹层和 SKF 的男性病例,并回顾了相关文献。患者为一名 30 岁男性,无相关病史,因突发性头晕、构音障碍和右侧肢体笨拙而被转入医院。八天前,他在踢足球时突然转向,导致右侧颈部剧烈疼痛,疼痛持续数日。从表型上看,他的脖子明显较短。头颅 CT 扫描显示急性右侧小脑梗塞,AngioCT 扫描显示双侧椎动脉夹层。核磁共振成像显示椎动脉壁信号强度过高,与壁内血肿相符。动脉造影证实了这一结果。在观察到两处椎动脉夹层的同一水平,观察到与 SKF 相匹配的 C2-C3 颈椎融合。患者在接受抗血小板治疗后无症状出院。他接受了 100 毫克阿司匹林的单次抗血小板治疗,病情保持稳定,没有复发。随访的磁共振血管造影显示,病变在 3 个月后有所缓解。SKF 是一种罕见的畸形,由颈椎融合、短颈和低发际植入三部分组成。它与中风的关联很少,病例描述也不多,其中没有一例伴有双侧夹层。
{"title":"Short neck as a cause of stroke? Bilateral vertebral artery dissection in a patient with Klippel-Feil Syndrome.","authors":"Laura Del Pino Tejado, Marta Vales Montero, Ana María Iglesias Mohedano, Andrés García Pastor, Fernando Díaz Otero, Pilar Vázquez Alén, Yolanda Fernández Bullido, Antonio Gil Núñez","doi":"10.1007/s10072-025-08157-z","DOIUrl":"https://doi.org/10.1007/s10072-025-08157-z","url":null,"abstract":"<p><p>Vertebral dissections are a recognized cause of stroke in young people. Its association with Klippel-Feil Syndrome (KFS) is unusual. We describe the case of a male with simultaneous bilateral vertebral artery dissection with SKF and review the related literature. A 30-year-old male, with no relevant medical history, was transferred to the hospital with code stroke due to dizziness, dysarthria and clumsiness of the right limbs of sudden onset. Eight days prior, he had experienced intense right-sided neck pain after making a sudden neck turn while playing football, which persisted over the days. Phenotypically, he had a noticeable short neck. A cranial CT scan showed an acute right cerebellar infarction and an AngioCT scan showed bilateral vertebral artery dissection. An MRI revealed vertebral artery wall signal hyperintensity, compatible with intramural hematoma. The findings were confirmed by arteriography. Fusion of the cervical vertebrae C2-C3 compatible with SKF was observed at the same level where both dissections were observed. The patient was discharged asymptomatic with antiplatelet treatment. He received single antiplatelet therapy with 100 mg aspirin, remaining stable without recurrences. A follow-up MR angiogram showed resolution of the lesions after 3 months. SKF is a rare malformation consisting of a triad of fusion of cervical vertebrae, short neck and low hairline implantation. Its association with stroke is scarce and there are few descriptions of cases, none with bilateral dissection.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780743","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}
引用次数: 0
期刊
Neurological Sciences
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1