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Letter to the editor concerning "Prognostic role of quantitative pupillometry in traumatic brain injury: a scoping review".
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-05 DOI: 10.1007/s10072-025-08050-9
Danoosh Esmaeili, Ali Hosseini
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引用次数: 0
Bilateral duplicated middle cerebral arteries.
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-04 DOI: 10.1007/s10072-025-08083-0
Hideki Endo, Hidetoshi Ono, Hirohiko Nakamura

Bilateral identical duplications of the middle cerebral artery are extremely rare. We report this anatomical variation in a 56-year-old woman. The anatomical variation was identified using magnetic resonance angiography, which was performed to evaluate cerebrovascular disease. Bilaterally, one middle cerebral artery originated from the internal carotid artery bifurcation and the other originated from the internal carotid artery terminal segment. The anatomical variations were incidental findings, and the patient was asymptomatic.

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引用次数: 0
Proposal for a new tool assessing validity performance in forensic neuropsychological testing: the Test of Malingering in Abstraction Skills (TOMAS). 法医神经心理学测试有效性评估的新工具建议:抽象能力误导测试(TOMAS)。
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-03 DOI: 10.1007/s10072-025-08061-6
Francesco Panico, Eleonora Fonzo, Annalisa Verde, Simona Lancia, Luigi Trojano

Objective: the assessment of malingering in forensic neuropsychological testing can be supported by the use of performance validity tests (PVTs). When designing PVTs, test material should be easy enough to be insensitive to real cognitive dysfunction, but at the same time difficult enough not to appear overtly as a measure of poor effort. In the present paper, we aimed at proposing a new instrument, the Test of Malingering in Abstraction Skills (TOMAS), for detecting poor effort possibly due to malingering in forensic neuropsychological assessment; in designing the instrument, we ensured that the test had a credible level of difficulty to keep satisfactory sensitivity.

Method: the TOMAS was developed as a standalone tool utilising items selected from standardised and validated neuropsychological tests assessing verbal abstraction skills. In three studies we developed the final version of the test, assessed its association with demographic and cognitive variables, and estimated its sensitivity, specificity and criterion validity in comparison with the Rey 15-items test using a simulation paradigm involving healthy participants.

Results: the final version of the TOMAS includes two sections (Part A and Part B) providing multiple indexes that have an adequate discriminating power, with satisfactory sensitivity and specificity values; the discriminating power of the TOMAS is higher than that of the Rey 15-items test.

Conclusion: the multiple indexes provided by the TOMAS may support clinicians in assessing poor effort during neuropsychological examination. Future evidence is needed to fully establish the validity of the instrument in clinical and forensic samples.

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引用次数: 0
Hemichorea associated with ipsilateral basal ganglia lesions.
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-03 DOI: 10.1007/s10072-025-08059-0
Hatice Varlıbaş, Alkım Ateşli Yazıcı

Background: Hemichorea-hemiballism (HCHB) is a rare movement disorder typically associated with contralateral subthalamic nucleus (STN) lesions, but it may also occur ipsilaterally. This case report highlights a rare instance of ipsilateral HCHB caused by a putaminal hematoma, providing insights into its pathophysiology and management.

Case report: A 52-year-old female with a history of bioprosthetic valve replacement and hypertension presented with involuntary movements in the left arm. Neurological examination revealed choreiform movements in the right upper extremity and left hemihypoesthesia. Cranial CT showed a right putaminal hematoma, while MRI revealed no additional findings. Despite no response to a 7-day course of haloperidol, the patient showed significant improvement with risperidone treatment, achieving complete resolution of symptoms within five months.

Conclusion: HCHB is commonly associated with contralateral basal ganglia lesions; however, this case demonstrates its occurrence ipsilaterally, likely due to vascular disinhibition of basal ganglia structures. Antidopaminergic therapy, including risperidone, proved effective in managing the disorder. This report underscores the importance of recognizing ipsilateral HCHB as a rare but treatable clinical presentation.

背景:血球症(HCHB)是一种罕见的运动障碍,通常与对侧丘脑下核(STN)病变有关,但也可能发生在同侧。本病例报告重点介绍了一个由普特姆血肿引起的同侧 HCHB 的罕见病例,为其病理生理学和治疗提供了见解:病例报告:一名 52 岁女性,有生物人工瓣膜置换术和高血压病史,因左臂不自主运动而就诊。神经系统检查显示其右上肢呈舞蹈样运动,左侧半身麻木。头颅CT显示右侧副乳突有血肿,而核磁共振检查没有其他发现。尽管患者对为期7天的氟哌啶醇治疗无反应,但在利培酮的治疗下病情有了明显好转,在5个月内症状完全消失:结论:HCHB 通常与对侧基底节病变有关;但本病例表明,它发生在同侧,很可能是由于基底节结构的血管抑制作用所致。事实证明,包括利培酮在内的抗多巴胺能治疗可有效控制该疾病。本报告强调了同侧 HCHB 作为一种罕见但可治疗的临床表现的重要性。
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引用次数: 0
Cognitive markers of resilience to dementia in mild Neurocognitive Impairment: a meta- analysis.
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-03 DOI: 10.1007/s10072-025-08080-3
Simona Raimo, Mariachiara Gaita, Maria Cropano, Lidia Ammendola, Daniela Malangone, Valentina Torchia, Mariamichela Aquino, Maria Dolores Roldan-Tapia, Luigi Trojano, Gabriella Santangelo

Background: Numerous risk factors for dementia have been identified, but the concern of how cognitive functions in the mild Neurocognitive Impairment (mild NCI) stage predict dementia occurrence and incidence is still a matter of debate. The present paper aims to fill this gap by conducting an updated meta-analysis of studies examining the probability over time of developing dementia in relation to measures of global cognitive functioning, long-term verbal memory, complex attention, visuoconstructional ability, and language in the mild NCI stage.

Methods: We conducted a systematic literature search up to March 2024 in PubMed, PsycINFO (PROQUEST), and Scopus databases. We used random-effects models to pool the ratio measure (odds, hazard, or risk ratios) for the association between cognitive domains and the risk of developing dementia in people with mild NCI.

Results: The systematic search in electronic databases identified 44 relevant studies. Results showed that better performance in long-term verbal memory, visuoconstructional, and language abilities in individuals with mild NCI were associated with a lower risk of progression to dementia.

Discussion: These findings might suggest that interventions aimed at preserving or enhancing these cognitive domains could be beneficial in delaying or preventing dementia onset, offering a potential therapeutic target for clinicians working with at-risk populations.

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引用次数: 0
Reversible cerebral vasoconstriction syndrome and bilateral Eagle Syndrome cause recurrent reversible carotid artery stenosis and cerebral infarction. 可逆性脑血管收缩综合征和双侧伊格尔综合征会导致复发性可逆性颈动脉狭窄和脑梗塞。
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-01 Epub Date: 2024-11-01 DOI: 10.1007/s10072-024-07842-9
Qi Chao, Pingping Wang, He Li

A middle-aged male who has experienced recurrent, reversible carotid artery stenosis and cerebral infarction over the past decade. Recurrent cerebral infarction is highly prevalent in clinical practice, with an accurate diagnosis of the cause of the disease being crucial. However, the patient is suffering from three diseases that may be involved in the recurrent cerebral infarction, including Reversible Cerebral Vasoconstriction Syndrome (RCVS), Bilateral Eagle Syndrome, and Patent Foramen Ovale (PFO). Among them, both RCVS and Bilateral Eagle Syndrome can lead to recurrent stenosis of the carotid arteries. But the coexistence of these diseases is extremely rare. The symptoms of patients are not typical, and the coexistence of all the three diseases makes it a challenging diagnostic dilemma. This article presents a diagnostic approach to differentiate these possible diseases, thereby enhancing readers' ability to diagnose such situations.

一名中年男性,在过去十年中反复出现可逆性颈动脉狭窄和脑梗塞。复发性脑梗死在临床上发病率很高,准确诊断病因至关重要。然而,患者所患的三种疾病可能与复发性脑梗死有关,包括可逆性脑血管收缩综合征(RCVS)、双侧鹰综合征和卵圆孔未闭(PFO)。其中,RCVS 和双侧鹰综合征均可导致颈动脉反复狭窄。但这些疾病同时存在的情况极为罕见。患者的症状并不典型,而这三种疾病的同时存在又使其成为一个具有挑战性的诊断难题。本文介绍了区分这些可能疾病的诊断方法,从而提高读者诊断此类情况的能力。
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引用次数: 0
Magnetic resonance-guided focused ultrasound in dystonia: a scoping review. 肌张力障碍中的磁共振引导聚焦超声:范围界定综述。
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-01 Epub Date: 2024-11-20 DOI: 10.1007/s10072-024-07882-1
Safrollah M Guinal, Roland Dominic G Jamora, Kathleen Joy O Khu, Jose A Aguilar

Background: Magnetic resonance guided focused ultrasound (MRgFUS) is a non-invasive therapeutic technique that utilizes focused ultrasound waves to generate heat at specific tissue targets within the brain. This emerging technology holds promise for its precision and potential benefits in comparison to traditional surgical interventions. This investigation involves a scoping review, summarizing insights from various studies that explore the advantages, limitations, and outcomes associated with MRgFUS in the treatment of dystonia.

Methods: This scoping review was conducted using the Preferred Reporting Items for Systematic reviews and Meta-analysis Extension for Scoping Reviews (PRISMA-ScR) guidelines. Data available on MRgFUS use in the management of different types of dystonia were extracted.

Results: There is limited data available (n = 11). In the surveyed literature, MRgFUS has consistently shown clinical benefit in patients with dystonia. It is an emerging avenue of treatment and has its challenges.

Conclusion: This scoping review highlighted the early but encouraging applications of MRgFUS in dystonia management. While data was limited, existing studies consistently demonstrated positive clinical outcomes. The non-invasive and precise nature of MRgFUS positions it as a promising avenue for further research, despite the challenges associated with its emergent status. This review sets the stage for future inquiries, emphasizing its potential as a valuable tool in dystonia treatment.

背景:磁共振引导聚焦超声(MRgFUS)是一种非侵入性治疗技术,它利用聚焦超声波在脑内特定组织靶点产生热量。与传统手术干预相比,这项新兴技术具有精确性和潜在优势。本调查涉及范围综述,总结了各种研究的见解,这些研究探讨了 MRgFUS 治疗肌张力障碍的优势、局限性和相关结果:本范围界定综述采用《范围界定综述的系统综述和元分析扩展首选报告项目》(Preferred Reporting Items for Systematic Review and Meta-analysis Extension for Scoping Reviews,PRISMA-ScR)指南进行。提取了有关MRgFUS用于治疗不同类型肌张力障碍的现有数据:可用数据有限(n = 11)。在所调查的文献中,MRgFUS在肌张力障碍患者中一直显示出临床疗效。这是一种新兴的治疗方法,但也存在挑战:本次范围界定综述强调了 MRgFUS 在肌张力障碍治疗中的早期应用,但这一应用令人鼓舞。虽然数据有限,但现有研究一致显示了积极的临床效果。MRgFUS 的无创性和精确性使其成为进一步研究的一个前景广阔的途径,尽管其新兴地位还面临着挑战。本综述为未来的研究奠定了基础,强调了其作为肌张力障碍治疗的重要工具的潜力。
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引用次数: 0
Prognostic role of quantitative pupillometry in traumatic brain injury: a scoping review. 定量瞳孔测量在外伤性脑损伤中的预后作用:范围综述。
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-01 Epub Date: 2024-12-12 DOI: 10.1007/s10072-024-07869-y
Iman Kiani, Mohammadamin Parsaei, Hanie Karimi, Alireza Beikmarzehei, Shahnaz Fooladi Sarabi, Pegah Pezhdam, Mehranoosh Nouri Khoramabadian, Mojtaba Shahbazi, Maryam Masoudi, Hossein Sanjari Moghaddam

Background: Traumatic brain injury (TBI) is a major cause of global mortality and disability, leading to primary and secondary brain injuries that can result in severe neurological, cognitive, and psychological impairments. Accurate and early prognosis of TBI outcomes is critical, particularly in assessing the risk of neurological decline, intracranial pressure (ICP) changes, and mortality.

Objective: This systematic review aims to evaluate the prognostic value of quantitative pupillometry, particularly the Neurological Pupil Index (NPi), in predicting long-term outcomes in TBI patients.

Methods: A systematic review was conducted following PRISMA guidelines, with the protocol registered on PROSPERO (CRD42023489079). Databases including PubMed, Scopus, and Embase were searched. Studies were included based on predefined inclusion criteria, focusing on the prognostic accuracy of automated pupillometry in TBI patients. Risk of bias was assessed using the Joanna Briggs Institute (JBI) tool, and evidence quality was evaluated using the Best-Evidence Synthesis approach.

Results: Thirteen studies met the inclusion criteria, with sample sizes ranging from 36 to 2258 participants. The studies demonstrated a consistent association between lower NPi values and increased mortality, poorer functional outcomes, elevated ICP, and the need for emergency interventions. Despite variability in study design and sample sizes, strong evidence supported the use of NPi as a reliable prognostic tool in TBI management.

Conclusion: Automated infrared pupillometry, particularly through NPi measurement, offers important prognostic value in TBI patients. Incorporating NPi into routine clinical practice could improve the accuracy of prognosis and enhance patient management. Future research should focus on standardizing measurement protocols and validating these findings in larger, more diverse cohorts.

背景:外伤性脑损伤(TBI)是全球死亡和残疾的主要原因,导致原发性和继发性脑损伤,可导致严重的神经、认知和心理障碍。准确和早期的TBI预后至关重要,特别是在评估神经功能衰退、颅内压(ICP)变化和死亡率的风险方面。目的:本系统综述旨在评估定量瞳孔测量,特别是神经学瞳孔指数(NPi)在预测TBI患者长期预后方面的预后价值。方法:按照PRISMA指南进行系统评价,方案在PROSPERO上注册(CRD42023489079)。检索了PubMed、Scopus和Embase等数据库。研究是根据预先确定的纳入标准纳入的,重点是自动瞳孔测量在TBI患者中的预后准确性。使用乔安娜布里格斯研究所(JBI)工具评估偏倚风险,使用最佳证据综合方法评估证据质量。结果:13项研究符合纳入标准,样本量从36到2258人不等。研究表明,较低的NPi值与死亡率增加、功能预后较差、ICP升高以及需要紧急干预之间存在一致的关联。尽管研究设计和样本量存在差异,但强有力的证据支持将NPi作为TBI管理中可靠的预后工具。结论:自动红外瞳孔测量,特别是通过NPi测量,对TBI患者的预后具有重要价值。将NPi纳入常规临床实践可提高预后的准确性,加强患者管理。未来的研究应侧重于标准化测量方案,并在更大、更多样化的人群中验证这些发现。
{"title":"Prognostic role of quantitative pupillometry in traumatic brain injury: a scoping review.","authors":"Iman Kiani, Mohammadamin Parsaei, Hanie Karimi, Alireza Beikmarzehei, Shahnaz Fooladi Sarabi, Pegah Pezhdam, Mehranoosh Nouri Khoramabadian, Mojtaba Shahbazi, Maryam Masoudi, Hossein Sanjari Moghaddam","doi":"10.1007/s10072-024-07869-y","DOIUrl":"10.1007/s10072-024-07869-y","url":null,"abstract":"<p><strong>Background: </strong>Traumatic brain injury (TBI) is a major cause of global mortality and disability, leading to primary and secondary brain injuries that can result in severe neurological, cognitive, and psychological impairments. Accurate and early prognosis of TBI outcomes is critical, particularly in assessing the risk of neurological decline, intracranial pressure (ICP) changes, and mortality.</p><p><strong>Objective: </strong>This systematic review aims to evaluate the prognostic value of quantitative pupillometry, particularly the Neurological Pupil Index (NPi), in predicting long-term outcomes in TBI patients.</p><p><strong>Methods: </strong>A systematic review was conducted following PRISMA guidelines, with the protocol registered on PROSPERO (CRD42023489079). Databases including PubMed, Scopus, and Embase were searched. Studies were included based on predefined inclusion criteria, focusing on the prognostic accuracy of automated pupillometry in TBI patients. Risk of bias was assessed using the Joanna Briggs Institute (JBI) tool, and evidence quality was evaluated using the Best-Evidence Synthesis approach.</p><p><strong>Results: </strong>Thirteen studies met the inclusion criteria, with sample sizes ranging from 36 to 2258 participants. The studies demonstrated a consistent association between lower NPi values and increased mortality, poorer functional outcomes, elevated ICP, and the need for emergency interventions. Despite variability in study design and sample sizes, strong evidence supported the use of NPi as a reliable prognostic tool in TBI management.</p><p><strong>Conclusion: </strong>Automated infrared pupillometry, particularly through NPi measurement, offers important prognostic value in TBI patients. Incorporating NPi into routine clinical practice could improve the accuracy of prognosis and enhance patient management. Future research should focus on standardizing measurement protocols and validating these findings in larger, more diverse cohorts.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1169-1177"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813788","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
Swallowing function in patients with spinal muscular atrophy before and after the introduction of new gene-based therapies: what has changed? 引入新的基因疗法前后脊髓性肌萎缩症患者的吞咽功能:发生了什么变化?
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-01 Epub Date: 2024-12-04 DOI: 10.1007/s10072-024-07883-0
Marta Ruggiero, Gabriele Giannotta, Greta Pirani, Federica Saponaro, Maria Carmela Oliva, Camilla Ferrante, Antonio Trabacca

Objective: Individuals diagnosed with Spinal Muscular Atrophy (SMA), particularly those presenting with the most severe phenotypes, have long contended with significant swallowing dysfunction. The recent emergence of efficacious advanced therapy has fundamentally altered the landscape of SMA management. By encompassing both the pre and post gene-based therapy eras within our analysis, we endeavour to elucidate the potential impact of these novel therapeutic interventions on this function.

Methods: Following the established methodology outlined by the Joanna Briggs Institute, a scoping review was conducted. This review encompassed relevant literature published up to March 2024. Two electronic databases were searched, with additional studies identified by reviewing reference lists of pertinent articles. The search strategy employed a combination of keywords including "spinal muscular atrophy", "SMA", "swallowing", "feeding", and "nutrition". Articles were initially screened based on title and abstract, followed by a full-text review of eligible studies published in peer-reviewed English language journals.

Results: The initial database search resulted in 462 articles, from which 23 studies were ultimately selected for analysis. Pre gene-based therapy studies revealed swallowing dysfunction as a prominent feature. Patients frequently reported challenges with chewing, choking on solids and liquids, and abnormal tongue movements during eating. Early dysphagia research relied on subjective measures (questionnaires, scales). objective measures like video fluoroscopic (VFSS) were rare. After gene-based therapies (GBTs), VFSS became the dominant, more objective method. Studies investigating the post-gene therapy era suggest potential clinical benefits, with trends towards improvement or stabilization of swallowing function.

Conclusion: Pre gene-based therapy studies revealed widespread swallowing dysfunction in SMA. Conversely, the post-treatment era suggests potential improvement. Future research should prioritize identifying optimal therapies for individual swallowing function and develop validated assessments to optimize SMA management.

目的:被诊断为脊髓性肌萎缩症(SMA)的个体,特别是那些表现出最严重表型的个体,长期以来一直与严重的吞咽功能障碍作斗争。最近出现的有效的先进疗法从根本上改变了SMA治疗的前景。通过在我们的分析中包含基于基因的治疗前和后的时代,我们努力阐明这些新的治疗干预对这一功能的潜在影响。方法:按照乔安娜布里格斯研究所概述的既定方法,进行范围审查。本综述包括截至2024年3月发表的相关文献。检索了两个电子数据库,并通过审查相关文章的参考书目确定了其他研究。搜索策略采用的关键词组合包括“脊髓性肌萎缩”、“SMA”、“吞咽”、“喂养”和“营养”。文章首先根据标题和摘要进行筛选,然后对发表在同行评审的英语期刊上的符合条件的研究进行全文审查。结果:最初的数据库检索结果为462篇文章,最终从中选择23篇研究进行分析。前基因治疗研究显示吞咽功能障碍是一个突出的特征。患者经常报告咀嚼困难,固体和液体窒息,进食时舌头运动异常。早期的吞咽困难研究依赖于主观测量(问卷调查,量表)。像视频透视(VFSS)这样的客观测量方法很少见。在基因治疗(gbt)之后,VFSS成为主导的、更客观的方法。研究后基因治疗时代提示潜在的临床益处,有改善或稳定吞咽功能的趋势。结论:基于基因前治疗的研究显示SMA患者普遍存在吞咽功能障碍。相反,治疗后的时代暗示着潜在的改善。未来的研究应优先确定个体吞咽功能的最佳治疗方法,并开发有效的评估来优化SMA的管理。
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引用次数: 0
Early mortality in STXBP1-related disorders. STXBP1 相关疾病的早期死亡率。
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-01 Epub Date: 2024-10-11 DOI: 10.1007/s10072-024-07783-3
Francesca Furia, Charlene Son Rigby, Ingrid E Scheffer, Nicholas Allen, Kate Baker, Christian Hengsbach, Josua Kegele, James Goss, Kathleen Gorman, Misra-Isrie Mala, Francesco Nicita, Talia Allan, Alberto Spalice, Yvonne Weber, Guido Rubboli, Rikke S Møller, Elena Gardella

Introduction: Pathogenic variants in STXBP1 cause a spectrum of disorders mainly consisting of developmental and epileptic encephalopathy (DEE), often featuring drug-resistant epilepsy. An increased mortality risk occurs in individuals with drug-resistant epilepsy and DEE, with sudden unexpected death in epilepsy (SUDEP) often the major cause of death. This study aimed to identify the rate and causes of mortality in STXBP1-related disorders.

Methods: Through an international call, we analyzed data on individuals with STXBP1 pathogenic variants, who passed away from causes related to their disease.

Results: We estimated a mortality rate of 3.2% (31/966), based on the STXBP1 Foundation and the STXBP1 Global Connect registry. In total, we analyzed data on 40 individuals (23 males) harboring pathogenic STXBP1 variants, collected from different centers worldwide. They died at a median age of 13 years (range: 11 months-46 years). The most common cause of death was SUDEP (36%), followed by pulmonary infections and respiratory complications (33%). The incidence of SUDEP peaked in mid-childhood, while non-SUDEP causes were more frequent in early childhood or adulthood (p = 0.006). In the most severe phenotypes, death was related to non-SUDEP causes (p = 0.018).

Conclusion: We found a mortality rate in STXBP1-related disorders similar to other DEEs, with an early age at death and SUDEP as well as pulmonary infections as the main cause of death. These findings assist in prognostic evaluation and genetic counseling for the families. They help to define the mortality risk of STXBP1-related disorders and implement preventative strategies.

简介:STXBP1 的致病变异可导致一系列疾病,主要包括发育性和癫痫性脑病 (DEE),通常还伴有耐药性癫痫。耐药性癫痫和 DEE 患者的死亡风险增加,癫痫猝死(SUDEP)往往是死亡的主要原因。本研究旨在确定 STXBP1 相关疾病的死亡率和死亡原因:方法:我们通过国际征集,分析了STXBP1致病变异个体的数据,这些个体死于与疾病相关的原因:根据 STXBP1 基金会和 STXBP1 全球连接登记处的数据,我们估计死亡率为 3.2%(31/966)。我们总共分析了从全球不同中心收集到的 40 名携带 STXBP1 致病变体的患者(23 名男性)的数据。他们的死亡年龄中位数为 13 岁(范围:11 个月-46 岁)。最常见的死因是 SUDEP(36%),其次是肺部感染和呼吸道并发症(33%)。SUDEP 的发病率在儿童中期达到高峰,而非 SUDEP 的死因在儿童早期或成年期更为常见(p = 0.006)。在最严重的表型中,死亡与非 SUDEP 原因有关(p = 0.018):结论:我们发现 STXBP1 相关疾病的死亡率与其他 DEE 相似,死亡年龄较早、SUDEP 和肺部感染是主要死因。这些发现有助于对预后进行评估并为患者家庭提供遗传咨询。它们有助于确定 STXBP1 相关疾病的死亡风险并实施预防策略。
{"title":"Early mortality in STXBP1-related disorders.","authors":"Francesca Furia, Charlene Son Rigby, Ingrid E Scheffer, Nicholas Allen, Kate Baker, Christian Hengsbach, Josua Kegele, James Goss, Kathleen Gorman, Misra-Isrie Mala, Francesco Nicita, Talia Allan, Alberto Spalice, Yvonne Weber, Guido Rubboli, Rikke S Møller, Elena Gardella","doi":"10.1007/s10072-024-07783-3","DOIUrl":"10.1007/s10072-024-07783-3","url":null,"abstract":"<p><strong>Introduction: </strong>Pathogenic variants in STXBP1 cause a spectrum of disorders mainly consisting of developmental and epileptic encephalopathy (DEE), often featuring drug-resistant epilepsy. An increased mortality risk occurs in individuals with drug-resistant epilepsy and DEE, with sudden unexpected death in epilepsy (SUDEP) often the major cause of death. This study aimed to identify the rate and causes of mortality in STXBP1-related disorders.</p><p><strong>Methods: </strong>Through an international call, we analyzed data on individuals with STXBP1 pathogenic variants, who passed away from causes related to their disease.</p><p><strong>Results: </strong>We estimated a mortality rate of 3.2% (31/966), based on the STXBP1 Foundation and the STXBP1 Global Connect registry. In total, we analyzed data on 40 individuals (23 males) harboring pathogenic STXBP1 variants, collected from different centers worldwide. They died at a median age of 13 years (range: 11 months-46 years). The most common cause of death was SUDEP (36%), followed by pulmonary infections and respiratory complications (33%). The incidence of SUDEP peaked in mid-childhood, while non-SUDEP causes were more frequent in early childhood or adulthood (p = 0.006). In the most severe phenotypes, death was related to non-SUDEP causes (p = 0.018).</p><p><strong>Conclusion: </strong>We found a mortality rate in STXBP1-related disorders similar to other DEEs, with an early age at death and SUDEP as well as pulmonary infections as the main cause of death. These findings assist in prognostic evaluation and genetic counseling for the families. They help to define the mortality risk of STXBP1-related disorders and implement preventative strategies.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1339-1347"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11828786/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142400845","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}
引用次数: 0
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