Pub Date : 2025-03-01Epub Date: 2024-10-21DOI: 10.1007/s10072-024-07788-y
Osama M Abdel Raheem, Doaa A Abdel-Hady
Background: Overactive bladder (OAB) is a common clinical presentation in patients with multiple sclerosis.
Objectives: The purpose of this study was to compare the effects of transcranial magnetic stimulation (TMS) and biofeedback on overactive bladder in patients with multiple sclerosis.
Methods: This research included 45 individuals with multiple sclerosis of both sexes. We randomly divided them into three equal groups (A, B, and C). Patients in group A got biofeedback training and pelvic floor exercise (PFME); patients in group B had transcranial magnetic treatment and PFME; and patients in group C had PFME. Urodynamic measurements were utilized to determine bladder parameters (detrusor pressure at maximum flow rate, bladder volume at initial desire to empty, maximum cystometric capacity, detrusor pressure, and maximum flow rate) for all groups before and after a six-week training interval (the end of therapy).
Results: There was a statistically significant improvement in all urodynamic measurement parameters within the groups (Groups A, B and C). Except for the maximal cystometric capacity and detrusor pressure were non-significant improvement in B before and after therapy. However, there was no significant difference between the three groups following therapy.
Conclusion: Transcranial magnetic stimulation and biofeedback improved bladder function in patients with multiple sclerosis. These approaches have a high level of safety and effectiveness, but EMG biofeedback has superiority.
背景:膀胱过度活动症(OAB)是多发性硬化症患者的常见临床表现:膀胱过度活动症(OAB)是多发性硬化症患者的常见临床表现:本研究旨在比较经颅磁刺激(TMS)和生物反馈对多发性硬化症患者膀胱过度活动症的影响:研究对象包括 45 名多发性硬化症患者,男女不限。我们将他们随机分为三组(A、B、C)。A 组患者接受生物反馈训练和盆底肌锻炼(PFME);B 组患者接受经颅磁治疗和盆底肌锻炼;C 组患者接受盆底肌锻炼。在为期六周的训练间隔(治疗结束)之前和之后,对所有组别进行了尿动力学测量,以确定膀胱参数(最大流速时的逼尿肌压力、初始排空欲望时的膀胱容量、最大膀胱容量、逼尿肌压力和最大流速):各组(A 组、B 组和 C 组)的所有尿动力学测量参数均有明显改善。除了最大膀胱容量和逼尿肌压力在治疗前后没有明显改善外,其他指标在 B 组均有明显改善。结论:经颅磁刺激和生物治疗在治疗前和治疗后均有显著改善:结论:经颅磁刺激和生物反馈可改善多发性硬化症患者的膀胱功能。结论:经颅磁刺激和生物反馈疗法可改善多发性硬化症患者的膀胱功能,这两种方法具有较高的安全性和有效性,但肌电图生物反馈疗法更具优势。
{"title":"Comparative study on the Impact of Transcranial Magnetic stimulation and Bio-feedback on overactive bladder in multiple sclerosis patients: a Randomized Clinical Trial.","authors":"Osama M Abdel Raheem, Doaa A Abdel-Hady","doi":"10.1007/s10072-024-07788-y","DOIUrl":"10.1007/s10072-024-07788-y","url":null,"abstract":"<p><strong>Background: </strong>Overactive bladder (OAB) is a common clinical presentation in patients with multiple sclerosis.</p><p><strong>Objectives: </strong>The purpose of this study was to compare the effects of transcranial magnetic stimulation (TMS) and biofeedback on overactive bladder in patients with multiple sclerosis.</p><p><strong>Methods: </strong>This research included 45 individuals with multiple sclerosis of both sexes. We randomly divided them into three equal groups (A, B, and C). Patients in group A got biofeedback training and pelvic floor exercise (PFME); patients in group B had transcranial magnetic treatment and PFME; and patients in group C had PFME. Urodynamic measurements were utilized to determine bladder parameters (detrusor pressure at maximum flow rate, bladder volume at initial desire to empty, maximum cystometric capacity, detrusor pressure, and maximum flow rate) for all groups before and after a six-week training interval (the end of therapy).</p><p><strong>Results: </strong>There was a statistically significant improvement in all urodynamic measurement parameters within the groups (Groups A, B and C). Except for the maximal cystometric capacity and detrusor pressure were non-significant improvement in B before and after therapy. However, there was no significant difference between the three groups following therapy.</p><p><strong>Conclusion: </strong>Transcranial magnetic stimulation and biofeedback improved bladder function in patients with multiple sclerosis. These approaches have a high level of safety and effectiveness, but EMG biofeedback has superiority.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1291-1299"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11828820/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142470953","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 : 2025-03-01Epub Date: 2024-11-18DOI: 10.1007/s10072-024-07859-0
Rosaria Renna, Gionata Spagnoletti, Mariana Rippa, Gennaro Alfieri, Stefano Barbato, Paolo Candelaresi, Carmine Capezzuto, Gennaro Della Rocca, Antonio De Mase, Maria Elena Di Battista, Mario Di Giovanni, Walter Di Iorio, Katia Longo, Vincenzo Loreto, Carlo Maurea, Massimo Napolitano, Elisabetta Petrillo, Angelo Ranieri, Simona Salvatore, Giovanna Servillo, Emanuele Spina, Romolo Villani, Mario Muto, Vincenzo Andreone
Background and objectives: The incidence of ischemic stroke in young adults has increased substantially. There are limited data in the literature concerning the short-term clinical outcome in young adults with acute stroke after revascularization treatment. Due to the lack of available data on gender differences short-term clinical outcome, we designed the present study.
Materials and methods: We collected data from 127 patients aged 50 years or younger consecutively admitted to the Stroke-Unit of "Cardarelli" Hospital in Naples between August 2017 and September 2022 due to ischemic stroke. All of them underwent thrombolysis and/or endovascular treatment.
Results and conclusions: Smoking, hypertension, and dyslipidemia emerged as the most prevalent risk factors. A gender-based analysis revealed that the history of stroke was the only statistically significant factor more frequently observed in the female group. The leading stroke etiology was "cardioembolism," succeeded by strokes of "other determined origin", "undetermined etiology," "large-artery atherosclerosis," and "small-artery occlusion." Concerning reperfusion therapy, intravenous thrombolysis ranked as the most utilized treatment, followed by "bridging" therapy (combining intravenous thrombolytic therapy with thrombectomy) and primary mechanical thrombectomy. Notably, the average NIHSS scores 7 days post-revascularization were lower among females compared to males, constituting a statistically significant distinction. Nevertheless, no statistically significant correlation surfaced between gender and treatment type in NIHSS mean values at admission, 2 hours, 24 hours post-revascularization, or 7 days post-revascularization. This suggests that the observed disparity in mean NIHSS score between male and female groups after 7 days may potentially stem from other factors, such as endogenous estrogens.
{"title":"Retrospective analysis of a tertiary care centre of sex differences in risk factors, aetiology and short-term clinical outcome after revascularization treatment in young adults' ischemic stroke.","authors":"Rosaria Renna, Gionata Spagnoletti, Mariana Rippa, Gennaro Alfieri, Stefano Barbato, Paolo Candelaresi, Carmine Capezzuto, Gennaro Della Rocca, Antonio De Mase, Maria Elena Di Battista, Mario Di Giovanni, Walter Di Iorio, Katia Longo, Vincenzo Loreto, Carlo Maurea, Massimo Napolitano, Elisabetta Petrillo, Angelo Ranieri, Simona Salvatore, Giovanna Servillo, Emanuele Spina, Romolo Villani, Mario Muto, Vincenzo Andreone","doi":"10.1007/s10072-024-07859-0","DOIUrl":"10.1007/s10072-024-07859-0","url":null,"abstract":"<p><strong>Background and objectives: </strong>The incidence of ischemic stroke in young adults has increased substantially. There are limited data in the literature concerning the short-term clinical outcome in young adults with acute stroke after revascularization treatment. Due to the lack of available data on gender differences short-term clinical outcome, we designed the present study.</p><p><strong>Materials and methods: </strong>We collected data from 127 patients aged 50 years or younger consecutively admitted to the Stroke-Unit of \"Cardarelli\" Hospital in Naples between August 2017 and September 2022 due to ischemic stroke. All of them underwent thrombolysis and/or endovascular treatment.</p><p><strong>Results and conclusions: </strong>Smoking, hypertension, and dyslipidemia emerged as the most prevalent risk factors. A gender-based analysis revealed that the history of stroke was the only statistically significant factor more frequently observed in the female group. The leading stroke etiology was \"cardioembolism,\" succeeded by strokes of \"other determined origin\", \"undetermined etiology,\" \"large-artery atherosclerosis,\" and \"small-artery occlusion.\" Concerning reperfusion therapy, intravenous thrombolysis ranked as the most utilized treatment, followed by \"bridging\" therapy (combining intravenous thrombolytic therapy with thrombectomy) and primary mechanical thrombectomy. Notably, the average NIHSS scores 7 days post-revascularization were lower among females compared to males, constituting a statistically significant distinction. Nevertheless, no statistically significant correlation surfaced between gender and treatment type in NIHSS mean values at admission, 2 hours, 24 hours post-revascularization, or 7 days post-revascularization. This suggests that the observed disparity in mean NIHSS score between male and female groups after 7 days may potentially stem from other factors, such as endogenous estrogens.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1237-1244"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648487","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 : 2025-03-01Epub Date: 2024-11-23DOI: 10.1007/s10072-024-07887-w
Arianna Cappiello, Sofia Cuoco, Rosa De Micco, Sara Satolli, Francesca Di Biasio, Tiziana Benzi Markushi, Luisa Sambati, Andrea Pilotto, Matteo Costanzo, Chiara Longo, Tommaso Schirinzi, Eleonora Del Prete, Daniela Frosini, Alessandro Stefani, Maria Chiara Malaguti, Giovanni Fabbrini, Alessandro Padovani, Giovanna Calandra-Buonaura, Roberta Marchese, Alessandro Tessitore, Paolo Barone, Marina Picillo
Objectives: Neuropsychiatric symptoms, such as apathy, disinhibition and irritability, are common in Progressive Supranuclear Palsy (PSP). The Frontal Behaviour Inventory (FBI) is a useful instrument for the evaluation of behavioural disorders in neurodegenerative diseases. The main goal of the present study was to explore the psychometric properties of the FBI in PSP.
Design, setting and participants: FBI was administered to the PSP-NET cohort including Italian patients diagnosed according to the Movement Disorder Society criteria. Patients underwent a clinical interview, a motor evaluation, extensive cognitive and behavioural testing.
Results: Two hundred and eight subjects were included in this study. The internal consistency was high (Cronbach's alpha = 0.868) and no improvement of this value was noted upon removal of any item. FBI showed also good acceptability, reliability and validity. The standard error of measurement (SEM) value for FBI total score was 0.169 [SEM = SD √ (1 - Cronbach's alpha)]. Factor analysis indicated a five-factor structure: Apathy, Behavioural disorders, Impulsivity, Motor and speech frontal behaviour and Executive disorders that explained the 54.92% of the total variance. Linear regression analysis showed that global cognitive impairment significantly affects both Apathy and Motor and speech frontal behaviour factors.
Conclusions: In conclusion, FBI is a reliable and valid tool for the assessment of neuropsychiatric symptoms in PSP, despite some constructs, such as euphoria and irritability, are better measured by the NPI. Two third of the cohort was represented by Richardson's syndrome, thus our data are mainly applicable to such common phenotype. Such data are useful in both clinical and research settings to plan adequate therapeutic interventions and to improve the quality of life of PSP patients and their caregivers.
{"title":"Psychometric properties and clinical correlates of the Frontal Behaviour Inventory in progressive supranuclear palsy: data from the PSP-NET.","authors":"Arianna Cappiello, Sofia Cuoco, Rosa De Micco, Sara Satolli, Francesca Di Biasio, Tiziana Benzi Markushi, Luisa Sambati, Andrea Pilotto, Matteo Costanzo, Chiara Longo, Tommaso Schirinzi, Eleonora Del Prete, Daniela Frosini, Alessandro Stefani, Maria Chiara Malaguti, Giovanni Fabbrini, Alessandro Padovani, Giovanna Calandra-Buonaura, Roberta Marchese, Alessandro Tessitore, Paolo Barone, Marina Picillo","doi":"10.1007/s10072-024-07887-w","DOIUrl":"10.1007/s10072-024-07887-w","url":null,"abstract":"<p><strong>Objectives: </strong>Neuropsychiatric symptoms, such as apathy, disinhibition and irritability, are common in Progressive Supranuclear Palsy (PSP). The Frontal Behaviour Inventory (FBI) is a useful instrument for the evaluation of behavioural disorders in neurodegenerative diseases. The main goal of the present study was to explore the psychometric properties of the FBI in PSP.</p><p><strong>Design, setting and participants: </strong>FBI was administered to the PSP-NET cohort including Italian patients diagnosed according to the Movement Disorder Society criteria. Patients underwent a clinical interview, a motor evaluation, extensive cognitive and behavioural testing.</p><p><strong>Results: </strong>Two hundred and eight subjects were included in this study. The internal consistency was high (Cronbach's alpha = 0.868) and no improvement of this value was noted upon removal of any item. FBI showed also good acceptability, reliability and validity. The standard error of measurement (SEM) value for FBI total score was 0.169 [SEM = SD √ (1 - Cronbach's alpha)]. Factor analysis indicated a five-factor structure: Apathy, Behavioural disorders, Impulsivity, Motor and speech frontal behaviour and Executive disorders that explained the 54.92% of the total variance. Linear regression analysis showed that global cognitive impairment significantly affects both Apathy and Motor and speech frontal behaviour factors.</p><p><strong>Conclusions: </strong>In conclusion, FBI is a reliable and valid tool for the assessment of neuropsychiatric symptoms in PSP, despite some constructs, such as euphoria and irritability, are better measured by the NPI. Two third of the cohort was represented by Richardson's syndrome, thus our data are mainly applicable to such common phenotype. Such data are useful in both clinical and research settings to plan adequate therapeutic interventions and to improve the quality of life of PSP patients and their caregivers.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1207-1215"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142695341","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 : 2025-03-01Epub Date: 2024-11-28DOI: 10.1007/s10072-024-07902-0
Zuzana Brežná, Katarína Ďurčová Typčuková, Ján Necpál
The three clap test (TCT) is a simple bedside test that can elicit the so-called applause sign (AS), manifesting with more than three claps after the examiner's instruction to clap three times. Although the AS was originally described as a useful sign differentiating patients with progressive supranuclear palsy (PSP) from patients with Parkinson's disease (PD) and frontotemporal dementia (FTD), it is also known to be present in PD, Alzheimer's disease and several other diseases. It reflects the so-called stopping impulsivity and cognitive and frontal lobe dysfunction. In addition to the AS, the TCT can also elicit the non-applause sign, linked with the apathy subtype of behavioural variant of FTD and the jumping the gun sign, a sign of waiting impulsivity, also seen in PSP. This review summarizes the up-to-date clinical aspects and pathophysiology of all these signs and discuss the benefit of using the TCT in the routine clinical praxis.
三拍手试验(TCT)是一种简单的床边试验,可诱发所谓的鼓掌征(AS),表现为在检查者指示下拍手三次以上。虽然鼓掌手势最初被描述为区分进行性核上性麻痹(PSP)患者与帕金森病(PD)和额颞叶痴呆(FTD)患者的有用体征,但它也存在于帕金森病、阿尔茨海默病和其他几种疾病中。它反映了所谓的停止冲动以及认知和额叶功能障碍。除 AS 外,TCT 还能诱发与 FTD 行为变异的冷漠亚型相关的不鼓掌征和跳枪征,后者是等待冲动的一种表现,也见于 PSP。本综述总结了所有这些征兆的最新临床表现和病理生理学,并讨论了在常规临床实践中使用 TCT 的益处。
{"title":"The three clap test: a window into cognitive and frontal lobe dysfunction.","authors":"Zuzana Brežná, Katarína Ďurčová Typčuková, Ján Necpál","doi":"10.1007/s10072-024-07902-0","DOIUrl":"10.1007/s10072-024-07902-0","url":null,"abstract":"<p><p>The three clap test (TCT) is a simple bedside test that can elicit the so-called applause sign (AS), manifesting with more than three claps after the examiner's instruction to clap three times. Although the AS was originally described as a useful sign differentiating patients with progressive supranuclear palsy (PSP) from patients with Parkinson's disease (PD) and frontotemporal dementia (FTD), it is also known to be present in PD, Alzheimer's disease and several other diseases. It reflects the so-called stopping impulsivity and cognitive and frontal lobe dysfunction. In addition to the AS, the TCT can also elicit the non-applause sign, linked with the apathy subtype of behavioural variant of FTD and the jumping the gun sign, a sign of waiting impulsivity, also seen in PSP. This review summarizes the up-to-date clinical aspects and pathophysiology of all these signs and discuss the benefit of using the TCT in the routine clinical praxis.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1103-1110"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142739941","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 : 2025-03-01Epub Date: 2024-12-12DOI: 10.1007/s10072-024-07938-2
Marialuisa Zedde, Rocco Quatrale, Vincenzo Andreone, Francesca Romana Pezzella, Giuseppe Micieli, Pietro Cortelli, Massimo Del Sette, Rosario Pascarella
Introduction: As detailed in the first part of this review, post-infectious vasculitides are a wide and complex category, including several clinical, microbiological and neuroradiological patterns. In order to raise the suspicion for diagnosis, the knowledge of two different neuroradiological issues is needed, i.e. the knowledge of neuroimaging pattern of infections and the one of neuroimaging pattern of vasculitis.
Aims: The main aim of this second part is to summarize the neuroradiological features of post-infectious vasculitides focusing on imaging of vessels and consequences of vessel involvement, continuing the discussion proposed in the first part about neuroimaging of infections. In some cases, the two neuroradiological issues are both simultaneously present in the same patient, but in other cases only the second one can be depicted due to the latency between infection and vasculitis.
Findings: Beyond general features of cerebral vascular involvement in post-infectious vasculitides, some well-studied and homogenous diseases, as treponemal vasculitis, Varicella Zoster Virus (VZV) arteriopathy, neuroborreliosis, SARS-CoV2-related endotheliopathy are described in detail, being not rare and sometimes underdiagnosed. The main clinical and neuroradiological features of these conditions are deeply addressed, providing diagnostic clues and pictorial examples.
Conclusions: Although some general features are common in clinical presentation and neuroimaging of post-infectious vasculitides, there are few neuroimaging clues pointing out a specific microbial agent as causative. The main step is to raise the diagnostic suspicion in order to start the dedicated investigation pathway and treatment.
{"title":"Post-infectious central nervous system vasculitides in adults: an underdiagnosed and treatable disease part II. Neuroimaging of selected etiologies : Part II. Neuroimaging of selected etiologies.","authors":"Marialuisa Zedde, Rocco Quatrale, Vincenzo Andreone, Francesca Romana Pezzella, Giuseppe Micieli, Pietro Cortelli, Massimo Del Sette, Rosario Pascarella","doi":"10.1007/s10072-024-07938-2","DOIUrl":"10.1007/s10072-024-07938-2","url":null,"abstract":"<p><strong>Introduction: </strong>As detailed in the first part of this review, post-infectious vasculitides are a wide and complex category, including several clinical, microbiological and neuroradiological patterns. In order to raise the suspicion for diagnosis, the knowledge of two different neuroradiological issues is needed, i.e. the knowledge of neuroimaging pattern of infections and the one of neuroimaging pattern of vasculitis.</p><p><strong>Aims: </strong>The main aim of this second part is to summarize the neuroradiological features of post-infectious vasculitides focusing on imaging of vessels and consequences of vessel involvement, continuing the discussion proposed in the first part about neuroimaging of infections. In some cases, the two neuroradiological issues are both simultaneously present in the same patient, but in other cases only the second one can be depicted due to the latency between infection and vasculitis.</p><p><strong>Findings: </strong>Beyond general features of cerebral vascular involvement in post-infectious vasculitides, some well-studied and homogenous diseases, as treponemal vasculitis, Varicella Zoster Virus (VZV) arteriopathy, neuroborreliosis, SARS-CoV2-related endotheliopathy are described in detail, being not rare and sometimes underdiagnosed. The main clinical and neuroradiological features of these conditions are deeply addressed, providing diagnostic clues and pictorial examples.</p><p><strong>Conclusions: </strong>Although some general features are common in clinical presentation and neuroimaging of post-infectious vasculitides, there are few neuroimaging clues pointing out a specific microbial agent as causative. The main step is to raise the diagnostic suspicion in order to start the dedicated investigation pathway and treatment.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1073-1086"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813773","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 : 2025-03-01Epub Date: 2024-12-30DOI: 10.1007/s10072-024-07884-z
Gert Cypers, Zoë Delaruelle, Jan Van den Stock
Background and objectives: POLR3-related disorders are a group of autosomal recessive neurodegenerative diseases that usually cause leukodystrophy and can lead to cognitive dysfunction. Literature reporting comprehensive neuropsychological assessment in POLR3A-related diseases is sparse. Here we describe the neuropsychological profile of a case of childhood-onset POLR3A-related spastic ataxia without leukodystrophy.
Methods: Extensive neuropsychological assessment covering the domains of attention, executive function, memory, language, visuospatial processing and social cognition in a patient with a compound heterozygous POLR3Amutation (c.2000T>A (p.Leu667*) / c.1909+22G>A) and a spastic ataxic phenotype.
Results: Neuropsychological testing showed a marked slowing of basic information processing (reading, colour naming on Stroop test), executive deficits (alternating attention through Letter-Digit Substitution Test and semantic word fluency) and social cognition impairment (facial emotion recognition via Facial Expressive Action Stimulus Test, intention and emotion attribution via Story-based Empathy Task).
Discussion: While originally described as a typical hypomyelination disorder, leukodystrophy nor striatal lesions seem pivotal to cognitive dysfunction in POLR3-related disease, as demonstrated in this patient. Further investigation of a larger cohort of (c.1909 + 22G>A) heterozygous patients is warranted to reveal which neuropsychological features correspond to this less aggressive phenotype.
背景与目的:polr3相关疾病是一组常染色体隐性神经退行性疾病,通常导致脑白质营养不良,并可导致认知功能障碍。报道polr3a相关疾病的综合神经心理学评估的文献很少。在这里,我们描述了一个儿童发病的polr3a相关的痉挛性共济失调无脑白质营养不良的神经心理学的情况。方法:对1例polr3复合杂合突变(c.2000T> a (p.Leu667*) / c.1909+22G> a)痉挛性失联表型患者的注意力、执行功能、记忆、语言、视觉空间加工和社会认知等方面进行广泛的神经心理学评估。结果:神经心理测试显示,儿童的基本信息处理(阅读、Stroop颜色命名测试)、执行能力(字母数字替代测试和语义词流畅性测试的交替注意)和社会认知障碍(面部表情动作刺激测试的面部情绪识别、基于故事的共情任务的意图和情绪归因)明显减慢。讨论:虽然最初被描述为典型的髓鞘退化疾病,但正如本例患者所证明的,在polr3相关疾病中,脑白质营养不良和纹状体病变似乎是认知功能障碍的关键。对(c.1909 + 22G> a)杂合子患者的更大队列的进一步研究有必要揭示哪些神经心理特征与这种低侵袭性表型相对应。
{"title":"Neuropsychological profile of POLR3A-related spastic ataxia.","authors":"Gert Cypers, Zoë Delaruelle, Jan Van den Stock","doi":"10.1007/s10072-024-07884-z","DOIUrl":"10.1007/s10072-024-07884-z","url":null,"abstract":"<p><strong>Background and objectives: </strong>POLR3-related disorders are a group of autosomal recessive neurodegenerative diseases that usually cause leukodystrophy and can lead to cognitive dysfunction. Literature reporting comprehensive neuropsychological assessment in POLR3A-related diseases is sparse. Here we describe the neuropsychological profile of a case of childhood-onset POLR3A-related spastic ataxia without leukodystrophy.</p><p><strong>Methods: </strong>Extensive neuropsychological assessment covering the domains of attention, executive function, memory, language, visuospatial processing and social cognition in a patient with a compound heterozygous POLR3Amutation (c.2000T>A (p.Leu667*) / c.1909+22G>A) and a spastic ataxic phenotype.</p><p><strong>Results: </strong>Neuropsychological testing showed a marked slowing of basic information processing (reading, colour naming on Stroop test), executive deficits (alternating attention through Letter-Digit Substitution Test and semantic word fluency) and social cognition impairment (facial emotion recognition via Facial Expressive Action Stimulus Test, intention and emotion attribution via Story-based Empathy Task).</p><p><strong>Discussion: </strong>While originally described as a typical hypomyelination disorder, leukodystrophy nor striatal lesions seem pivotal to cognitive dysfunction in POLR3-related disease, as demonstrated in this patient. Further investigation of a larger cohort of (c.1909 + 22G>A) heterozygous patients is warranted to reveal which neuropsychological features correspond to this less aggressive phenotype.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1383-1387"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142910106","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 : 2025-03-01Epub Date: 2024-11-07DOI: 10.1007/s10072-024-07862-5
Rohini M Surve, Prachi Sharma, Roshan Nisal, Dhritiman Chakrabarti, K Raghavendra, Girish B Kulkarni, Sriganesh Kamath
Background: Guillain-Barré Syndrome (GBS) remains a significant contributor to acute flaccid paralysis in pediatric patients worldwide. Despite its impact, studies focusing on pediatric GBS requiring intensive care unit (ICU) management are limited. This study aimed to address this gap by exploring the clinical and outcome characteristics of pediatric GBS necessitating ICU care.
Methods: This retrospective observational study, spanning a decade, analyzed the records of 75 pediatric GBS patients admitted to the Neuro-ICU of a tertiary care center in South India. Data included demographics, prodromal symptoms, clinical features, investigations, treatment modalities, and outcomes.
Results: The majority (55/75) of patients were male, with a median age of 12 years. The highest incidence of GBS requiring ICU admission was in the monsoon season. Prodromal symptoms were observed in 56%. Most patients (93.33%) presented with typical GBS symptoms, and 40% had respiratory distress on ICU admission. Acute motor axonal neuropathy (AMAN) was the most common subtype. Approximately 80% required mechanical ventilation, with a median duration of 22.5 days. No in-hospital mortality was recorded. At discharge, most patients had a GBS disability score of 4, improving to 2 at a median follow -up of 228 days.
Conclusions: Pediatric GBS patients requiring ICU care exhibit distinctive characteristics, including a higher prevalence of AMAN subtype, seasonal clustering, and favorable outcomes with intensive treatment. The absence of in-hospital mortality underscores the effectiveness of prompt ICU admission and dedicated Neuro-intensive care.
{"title":"Clinical characteristics and functional outcomes of pediatric Guillain-Barré syndrome admitted to the Neuro-intensive care unit: a decade-long retrospective observational study.","authors":"Rohini M Surve, Prachi Sharma, Roshan Nisal, Dhritiman Chakrabarti, K Raghavendra, Girish B Kulkarni, Sriganesh Kamath","doi":"10.1007/s10072-024-07862-5","DOIUrl":"10.1007/s10072-024-07862-5","url":null,"abstract":"<p><strong>Background: </strong>Guillain-Barré Syndrome (GBS) remains a significant contributor to acute flaccid paralysis in pediatric patients worldwide. Despite its impact, studies focusing on pediatric GBS requiring intensive care unit (ICU) management are limited. This study aimed to address this gap by exploring the clinical and outcome characteristics of pediatric GBS necessitating ICU care.</p><p><strong>Methods: </strong>This retrospective observational study, spanning a decade, analyzed the records of 75 pediatric GBS patients admitted to the Neuro-ICU of a tertiary care center in South India. Data included demographics, prodromal symptoms, clinical features, investigations, treatment modalities, and outcomes.</p><p><strong>Results: </strong>The majority (55/75) of patients were male, with a median age of 12 years. The highest incidence of GBS requiring ICU admission was in the monsoon season. Prodromal symptoms were observed in 56%. Most patients (93.33%) presented with typical GBS symptoms, and 40% had respiratory distress on ICU admission. Acute motor axonal neuropathy (AMAN) was the most common subtype. Approximately 80% required mechanical ventilation, with a median duration of 22.5 days. No in-hospital mortality was recorded. At discharge, most patients had a GBS disability score of 4, improving to 2 at a median follow -up of 228 days.</p><p><strong>Conclusions: </strong>Pediatric GBS patients requiring ICU care exhibit distinctive characteristics, including a higher prevalence of AMAN subtype, seasonal clustering, and favorable outcomes with intensive treatment. The absence of in-hospital mortality underscores the effectiveness of prompt ICU admission and dedicated Neuro-intensive care.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1369-1377"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142591197","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}
Background: Post-stroke hemiparesis can lead to decreased mobility, gait disturbances, impaired balance, postural instability, limitations in activities of daily living (ADL), and long-term disability.
Aims: The aim of this study was to examine the effect of non-immersive virtual reality game-based training (nIVRGT) in addition to conventional rehabilitation in stroke patients on dynamic balance, knee hyperextension control, and ADL.
Methods: Twenty-five chronic stroke patients aged between 51 and 70 were included in the study. Stroke patients were randomized to a control group (n = 12) and a study group (n = 13). Individuals in control group participated conventional physiotherapy and rehabilitation program for 60 min, 3 days a week for 6 weeks. individuals in the study group received 40 min of conventional physiotherapy and rehabilitation program plus 20 min nIVRGT. Functional Reach Test, Timed Up and Go Test, Computerized Gait Evaluation System and Barthel Index were used in the evaluation.
Result: The study group improved significantly in dynamic balance, knee control, and ADL (p < 0.05). In the control group, significant improvements were observed in dynamic balance and knee control (p < 0.05), except ADL (p > 0.05). The study group improved in dynamic balance compared with the control group (p < 0.05). Knee control and ADL improved similarly in both groups (p > 0.05).
Conclusion: Our results showed that conventional and additional nIVRGT rehabilitation improved dynamic balance and knee hyperextension control in chronic stroke. However, it was observed that the non-immersive virtual reality (nIVR) approach was more effective in improving dynamic balance in stroke patients than conventional rehabilitation alone.
{"title":"Examining the effects of non-immersive virtual reality game-based training on knee hyperextension control and balance in chronic stroke patients: a single-blind randomized controlled study.","authors":"Süleyman Korkusuz, Gülşen Taşkın, Büşra Seçkinoğulları Korkusuz, Melike Sümeyye Özen, Zeliha Özlem Yürük","doi":"10.1007/s10072-024-07830-z","DOIUrl":"10.1007/s10072-024-07830-z","url":null,"abstract":"<p><strong>Background: </strong>Post-stroke hemiparesis can lead to decreased mobility, gait disturbances, impaired balance, postural instability, limitations in activities of daily living (ADL), and long-term disability.</p><p><strong>Aims: </strong>The aim of this study was to examine the effect of non-immersive virtual reality game-based training (nIVRGT) in addition to conventional rehabilitation in stroke patients on dynamic balance, knee hyperextension control, and ADL.</p><p><strong>Methods: </strong>Twenty-five chronic stroke patients aged between 51 and 70 were included in the study. Stroke patients were randomized to a control group (n = 12) and a study group (n = 13). Individuals in control group participated conventional physiotherapy and rehabilitation program for 60 min, 3 days a week for 6 weeks. individuals in the study group received 40 min of conventional physiotherapy and rehabilitation program plus 20 min nIVRGT. Functional Reach Test, Timed Up and Go Test, Computerized Gait Evaluation System and Barthel Index were used in the evaluation.</p><p><strong>Result: </strong>The study group improved significantly in dynamic balance, knee control, and ADL (p < 0.05). In the control group, significant improvements were observed in dynamic balance and knee control (p < 0.05), except ADL (p > 0.05). The study group improved in dynamic balance compared with the control group (p < 0.05). Knee control and ADL improved similarly in both groups (p > 0.05).</p><p><strong>Conclusion: </strong>Our results showed that conventional and additional nIVRGT rehabilitation improved dynamic balance and knee hyperextension control in chronic stroke. However, it was observed that the non-immersive virtual reality (nIVR) approach was more effective in improving dynamic balance in stroke patients than conventional rehabilitation alone.</p><p><strong>Clinical trial code: </strong>NCT05907473.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1267-1275"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142522537","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 : 2025-03-01Epub Date: 2024-10-30DOI: 10.1007/s10072-024-07852-7
Janki Makani, Anand Kumar, Ibrahim Hussain, Niraj Kumar, Deepika Joshi
Parkinson's disease psychosis, characterized by confusion, visual hallucinations, and delusions is a nightmare for the patients and caregivers. Classic neuroleptics aggravate the motor symptoms, hence the need for an effective atypical antipsychotic. Currently Pimavanserin is the only approved drug for Parkinson's disease psychosis (PDP), however it is not readily available. Clozapine with its excellent anti psychotic profile, without worsening of motor features, cost effectiveness and easy availability transcends all boundaries in improving the Quality of life in PD patients with psychosis. We describe an elderly patient with PDP with an excellent response to low dose clozapine.
{"title":"Clozapine for Parkinson's disease psychosis in a septuagenarian: a nightmare turned into bliss.","authors":"Janki Makani, Anand Kumar, Ibrahim Hussain, Niraj Kumar, Deepika Joshi","doi":"10.1007/s10072-024-07852-7","DOIUrl":"10.1007/s10072-024-07852-7","url":null,"abstract":"<p><p>Parkinson's disease psychosis, characterized by confusion, visual hallucinations, and delusions is a nightmare for the patients and caregivers. Classic neuroleptics aggravate the motor symptoms, hence the need for an effective atypical antipsychotic. Currently Pimavanserin is the only approved drug for Parkinson's disease psychosis (PDP), however it is not readily available. Clozapine with its excellent anti psychotic profile, without worsening of motor features, cost effectiveness and easy availability transcends all boundaries in improving the Quality of life in PD patients with psychosis. We describe an elderly patient with PDP with an excellent response to low dose clozapine.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1415-1417"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142546441","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}