European Journal of Neurology最新文献

{"title":"Urodynamic study and its correlation with cardiac meta-iodobenzylguanidine (MIBG) in body-first and brain-first subtypes of Parkinson's disease.","authors":"Min Seung Kim, Jong Keun Kim, In Hee Kwak, Jeongjae Lee, Young Eun Kim, Hyeo-Il Ma, Suk Yun Kang","doi":"10.1111/ene.16497","DOIUrl":"https://doi.org/10.1111/ene.16497","url":null,"abstract":"<p><strong>Background and purpose: </strong>Lower urinary tract symptoms (LUTS) are frequently observed in patients with Parkinson's disease (PD), but the underlying mechanism remains elusive. The concept of \"body-first\" and \"brain-first\" subtypes in PD has been proposed, but the correlation of PD subtype with LUTS remains unclear. We aimed to investigate the disparities in urological dysfunctions between body-first and brain-first subtypes of PD using urodynamic studies (UDS).</p><p><strong>Methods: </strong>We reviewed patients with PD (disease duration <3 years) who had undergone UDS and completed urological questionnaires (Overactive Bladder Symptom Score [OABSS] and International Prostate Symptom Score [IPSS]) and a voiding diary. Patients were categorized as having body-first or brain-first PD based on cardiac sympathetic denervation (CSD) using cardiac meta-iodobenzylguanidine (MIBG) uptake and the presence of rapid eye movement sleep behavior disorder (RBD), assessed using a questionnaire (PD with CSD and RBD indicating the body-first subtype).</p><p><strong>Results: </strong>A total of 55 patients with PD were categorized into body-first PD (n = 37) and brain-first PD (n = 18) groups. The body-first PD group exhibited smaller voiding volume and first desire volume (FDV) than the brain-first PD group (p < 0.05 in both). Also, the body-first PD group had higher OABSS and IPSS scores, and higher prevalence of overactive bladder diagnosed by OABSS, compared to the brain-first PD group. In multiple linear regression, cardiac MIBG uptake was positively correlated with FDV and voiding volume and negatively correlated with OABSS and IPSS (p < 0.05 in all).</p><p><strong>Conclusions: </strong>Patients with the body-first PD subtype exhibited more pronounced overactive bladder symptoms and impaired storage function in the early stage of disease. Additionally, cardiac MIBG was significantly associated with urological dysfunction.</p>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142344108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relationship between migraine and epilepsy in a large population-based cohort: The HUNT Study.","authors":"Helene Engstrand, Eline Revdal, Maria Bengtson Argren, Knut Hagen, John-Anker Zwart, Eylert Brodtkorb, Bendik Slagsvold Winsvold","doi":"10.1111/ene.16496","DOIUrl":"https://doi.org/10.1111/ene.16496","url":null,"abstract":"<p><strong>Background and purpose: </strong>Several studies have reported substantial comorbidity between epilepsy and migraine. Most of these were based on clinical cohorts or used unvalidated diagnostic instruments. Our study re-examined this association in a large general population cohort using validated diagnoses for both disorders.</p><p><strong>Methods: </strong>A total of 65,407 participants (≥20 years old) from HUNT (the Trøndelag Health Study) were classified for migraine and nonmigraine headache using a validated questionnaire. Medical record review was used to validate and classify epilepsy in 364 participants (cases), who were compared with 63,298 participants without epilepsy (controls). The association between epilepsy and migraine was analysed using logistic regression adjusted for sex and age.</p><p><strong>Results: </strong>Patients with epilepsy had no increased prevalence of migraine (odds ratio [OR] = 0.95, 95% confidence interval [CI] = 0.68-1.33) or nonmigraine headache (OR = 1.18, 95% CI = 0.93-1.50) compared to controls. When stratified by headache frequency, epilepsy was associated with a higher prevalence of migraine with highly frequent headache (≥7 days/month; OR = 1.73, 95% CI = 1.08-2.78).</p><p><strong>Conclusions: </strong>Migraine was equally common in people with and without epilepsy. Patients with epilepsy who suffered from migraine were more prone to having highly frequent migraine.</p>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142344106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of dementia with impaired kidney function and plasma biomarkers: A population-based study.","authors":"Nan Wang, Yixun Ma, Xiaoyan Liang, Wenxin Fa, Xunyao Tian, Cuicui Liu, Min Zhu, Na Tian, Keke Liu, Shi Tang, Lin Song, Lin Cong, Lu Dai, Hong Xu, Yongxiang Wang, Tingting Hou, Yifeng Du, Chengxuan Qiu","doi":"10.1111/ene.16488","DOIUrl":"https://doi.org/10.1111/ene.16488","url":null,"abstract":"<p><strong>Background and purpose: </strong>Emerging evidence has linked impaired kidney function with dementia in older adults, but the neuropathological pathways underlying their association remain poorly understood. We sought to examine the relationships of kidney function with dementia and plasma biomarkers in a Chinese rural population.</p><p><strong>Methods: </strong>This population-based study used data from the baseline examination of the Multimodal Interventions to Delay Dementia and Disability in rural China (MIND-China) cohort (March-September 2018; n = 5715). Kidney function was assessed using estimated glomerular filtration rate (eGFR) based on serum creatinine level. Dementia, Alzheimer's disease (AD) and vascular dementia (VaD) were diagnosed according to the international criteria. Plasma biomarkers were measured using the SIMOA platform in a subsample (n = 1446). Data were analyzed using logistic, general linear, and mediation models.</p><p><strong>Results: </strong>Of the 5715 participants, 306 were diagnosed with dementia, including 195 with AD and 100 with VaD. Impaired kidney function (eGFR <60 vs. ≥90 mL/min/1.73 m²) was associated with multivariable-adjusted odds ratios of 2.24 (95% confidence interval [CI] 1.44-3.46) for all-cause dementia, 1.85 (1.07-3.18) for AD, and 2.49 (1.16-5.22) for VaD. In the biomarker subsample, impaired kidney function was significantly associated with higher plasma amyloid-β (Aβ)40 (β-coefficient = 54.36, 95% CI 43.34-65.39), Aβ42 (β-coefficient = 3.14, 95% CI 2.42-3.86), neurofilament light chain (β-coefficient = 10.62, 95% CI 5.62-15.62), and total tau (β-coefficient = 0.68, 95% CI 0.44-0.91), and a lower Aβ42/Aβ40 ratio (β-coefficient = -4.11, 95% CI -8.08 to -0.14). The mediation analysis showed that plasma total tau significantly mediated 21.76% of the association between impaired kidney function and AD (p < 0.05).</p><p><strong>Conclusion: </strong>Impaired kidney function is associated with dementia and plasma biomarkers among rural-dwelling older Chinese adults, and the association with AD is partly mediated by plasma biomarkers for neurodegeneration.</p>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142344098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Elevated serum circulating cell-free mitochondrial DNA in amyotrophic lateral sclerosis.","authors":"Jieyu Li, Chao Gao, Qingqing Wang, Jing Liu, Zhiying Xie, Yawen Zhao, Meng Yu, Yiming Zheng, He Lv, Wei Zhang, Yun Yuan, Lingchao Meng, Jianwen Deng, Zhaoxia Wang","doi":"10.1111/ene.16493","DOIUrl":"https://doi.org/10.1111/ene.16493","url":null,"abstract":"<p><strong>Background and purpose: </strong>The substantial role of inflammation in amyotrophic lateral sclerosis (ALS) is gaining support from recent research. Studies indicate that circulating cell-free mitochondrial DNA (ccf-mtDNA) can activate the immune system and is associated with neurodegenerative diseases. This research was designed to quantify ccf-mtDNA levels in the serum of ALS patients.</p><p><strong>Methods: </strong>The medical records of ALS patients were reviewed. Serum ccf-mtDNA levels of patients with ALS (n = 62) and age-matched healthy controls (n = 46) were measured and compared. Additionally, serum interleukin-6 (IL-6) levels were measured using an enzyme-linked immunosorbent assay in 26 ALS patients. Correlations between variables were analyzed.</p><p><strong>Results: </strong>Serum ccf-mtDNA was notably higher in the patients with ALS. When stratified by genotype, the superoxide dismutase 1 (SOD1) mutation group showed the greatest increase in ccf-mtDNA levels relative to other ALS patients. Among all 108 individuals, a cut-off set at 1.1 × 10⁵ mtDNA copies on a receiver-operating characteristic curve identified patients with ALS with 80.7% sensitivity and 50.0% specificity; the area under the curve was 0.69 (p < 0.001). Furthermore, serum ccf-mtDNA levels correlated negatively with the progression rate of ALS (ΔFS; rs = -0.26, p = 0.044), but not the ALSFRS-R score (rs = 0.06, p = 0.625). Importantly, the correlation between ccf-mtDNA and ΔFS was more pronounced in the SOD1 mutation group (rs = -0.62, p = 0.018). Lastly, a significant positive association was observed between serum ccf-mtDNA levels and IL-6 levels in ALS (r s= 0.41, p = 0.038).</p><p><strong>Conclusion: </strong>Our study found increased serum ccf-mtDNA in ALS patients, suggesting a link to inflammatory processes and disease mechanism. Moreover, ccf-mtDNA could be an indicator for ALS progression, especially in those with the SOD1 mutation.</p>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142344100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A nomogram for predicting the risk of postoperative delirium in individuals undergoing cardiovascular surgery.","authors":"Chao Liu, Linfei Zhang, Weifeng Tang, Sheng Zhao, Mingke Li, Jinghang Li, Yongfeng Shao","doi":"10.1111/ene.16483","DOIUrl":"https://doi.org/10.1111/ene.16483","url":null,"abstract":"<p><strong>Background and purpose: </strong>Delirium is a common mental disorder after adult cardiovascular surgery. Fifteen to 23% of patients undergoing cardiovascular surgery and cardiomyopathy experience delirium, and the efficacy of treatment interventions for delirium has been consistently unsatisfactory.</p><p><strong>Methods: </strong>A total of 729 patients who underwent cardiovascular surgery were randomly allocated into a training set and a validation set. A nomogram was developed using a logistic regression model to predict the incidence of delirium following cardiovascular surgery. The validity of the model was assessed by determining the receiver operating characteristic (ROC) curve, calculating the area under the ROC curve (AUROC), performing a calibration plot, and executing a decision curve analysis. This model was internally validated using the bootstrap method.</p><p><strong>Results: </strong>Postoperative delirium (POD) occurred in 165 cases (22.6%) among the 729 patients. Predictors included age, transient ischemic attack, length of preoperative stay, preoperative left ventricular injection fraction and N-terminal pro-B-type natriuretic peptide level, and intraoperative infusion of dexmedetomidine and human fibrinogen. The nomogram showed sufficient differentiation and calibration (AUROC = 0.754, 95% confidence interval = 0.703-0.804). The calibration graphs showed that the predictive values of the nomogram were in agreement with the actual values. The analysis of the training and validation sets suggested that the model possessed specific clinical significance.</p><p><strong>Conclusions: </strong>In summary, the predictive model consists of seven factors that can roughly predict the occurrence of POD in patients who undergo cardiovascular surgery.</p>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142344097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sumatriptan-naproxen sodium in migraine: A review","authors":"Robyn-Jenia Wilcha,&nbsp;Shazia K. Afridi,&nbsp;Piero Barbanti,&nbsp;Hans Christoph Diener,&nbsp;Tim Patrick Jürgens,&nbsp;Michel Lanteri-Minet,&nbsp;Christian Lucas,&nbsp;Jerôme Mawet,&nbsp;Xavier Moisset,&nbsp;Antonio Russo,&nbsp;Simona Sacco,&nbsp;Alexandra J. Sinclair,&nbsp;Marja-Liisa Sumelahti,&nbsp;Cristina Tassorelli,&nbsp;Peter J. Goadsby","doi":"10.1111/ene.16434","DOIUrl":"https://doi.org/10.1111/ene.16434","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Varied responses to acute migraine medications have been observed, with over one-third (34.5%) of patients reporting insufficient headache relief. Sumatriptan-naproxen sodium, a single, fixed-dose combination tablet comprising sumatriptan 85 mg and naproxen sodium 500 mg, was developed with the rationale of targeting multiple putative mechanisms involved in the pathogenesis of migraine to optimise acute migraine care.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A narrative review of clinical trials investigating sumatriptan-naproxen sodium for both adults and adolescents was performed in March 2024.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Across a total of 14 clinical trials in nine publications, sumatriptan-naproxen sodium offered greater efficacy for 2-h pain freedom (14/14) and sustained pain-free response up to 24 h (13/14) compared with monotherapy and/or placebo for both adult and adolescent study participants with an acceptable and well-tolerated adverse effect profile. Clinical trial data also demonstrates the effectiveness of sumatriptan-naproxen sodium in participants with allodynia, probable migraine, menstrual-related migraine and those with poor responses to acute, non-specific, migraine medication.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Multi-mechanistic therapeutic agents offer an opportunity to optimise acute medications by targeting multiple mediators involved in the pathogenesis of migraine. Sumatriptan-naproxen sodium resulted in greater initial and sustained pain freedom, compared with either sumatriptan, naproxen-sodium and/or placebo, for the treatment of single or multiple attacks of migraine across both adult and adolescent study populations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.16434","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142316821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.","authors":"Jun Xu, Zhengxing Zou, Wanyang Liu, Qian Zhang, Juan Shen, Fangbin Hao, Gan Chen, Dan Yu, Yunzhu Li, Zhengshan Zhang, Yuchen Qin, Rimiao Yang, Yue Wang, Lian Duan","doi":"10.1111/ene.16473","DOIUrl":"10.1111/ene.16473","url":null,"abstract":"<p><strong>Background and purpose: </strong>The penetrance of the RNF213 p.R4810K, a founder mutation of moyamoya disease (MMD), is estimated to be only 1/150-1/300. However, the factors affecting its penetrance remain unclear. Therefore, our study aims to identify modifier genes associated with the incomplete penetrance of this founder mutation.</p><p><strong>Methods: </strong>Whole-exome sequencing (WES) was performed on 36 participants, including 22 MMD patients and 14 non-MMD controls with RNF213 p.R4810K mutation. Fisher's exact test was used to assess the presence of genetic variants that differed significantly between MMD patients and non-MMD controls. In order to exclude false-positive results, another 55 carriers were included to perform Fisher's exact test for the selected sites in the WES discovery stage. Subsequently, human brain microvascular endothelial cells were transfected with wild-type and mutant HAPLN3 for tube formation assays and western blotting to explore the impact of candidate genes on angiogenesis.</p><p><strong>Results: </strong>Analysis of variants from WES data revealed a total of 12 non-synonymous variants. Through bioinformatics analysis, the focus was on the HAPLN3 p.T34A variant with a significant p value of 0.00731 in Fisher's exact test. Validation through Sanger sequencing confirmed the presence of this variant in the WES data. In vitro experiments revealed that silencing HAPLN3 and transfecting HAPLN3 p.T34A significantly enhanced tube formation and increased the relative protein expression of vascular endothelial growth factor in endothelial cells.</p><p><strong>Conclusions: </strong>These results suggest that HAPLN3 may function as a modifier gene of RNF213 p.R4810K, promoting the development of MMD and contributing to the incomplete penetrance of MMD founder mutations.</p>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and characteristics of visual snow syndrome in a cohort of young Italian adults.","authors":"Marina Romozzi, Vincenzo Trigila, Federico Tosto, Giovanni Cuffaro, David García-Azorín, Luigi Francesco Iannone, Pietro Romozzi, Gustavo Savino, Paolo Calabresi, Francesca Puledda, Catello Vollono","doi":"10.1111/ene.16472","DOIUrl":"https://doi.org/10.1111/ene.16472","url":null,"abstract":"<p><strong>Background: </strong>Visual snow (VS) and visual snow syndrome (VSS) are becoming increasingly recognized. However, their prevalence worldwide is unknown. This study aimed to investigate lifetime prevalence and describe the clinical characteristics of VS and VSS in a representative population sample from Italy.</p><p><strong>Methods: </strong>This cross-sectional study was conducted among students attending different faculties in three universities in the central and southern regions of Italy. Eligible participants completed a self-administered questionnaire. In patients fulfilling possible criteria for VS/VSS, the diagnosis was validated by an on-site visit conducted by experienced neurologists and neuro-ophthalmologists that included optical coherence tomography angiography (OCTA).</p><p><strong>Results: </strong>A total of 750 participants completed the study. Seven (0.9%) reported symptoms compatible with VS (mean age 24.8 ± 3.85 years). Among the seven patients, five (0.7%) also met the phenomenological and temporal criteria for VSS. Neuroimaging and ophthalmological examinations showed normal results upon review or during the on-site visit including OCTA. For the five patients with full VSS, the other visual symptoms reported were enhanced entoptic phenomenon (n = 5), photophobia (n = 5), palinopsia (n = 1), and nyctalopia (n = 4). In four of the seven patients (57%) reporting VS symptoms, there was a concomitant diagnosis of migraine with aura, and in one (14%) migraine without aura. All patients (n = 7) reported tinnitus. Six of the seven (85.7%) patients with VS/VSS had never used specific treatments for the condition. None of the seven patients had received a previous diagnosis of VS/VSS.</p><p><strong>Conclusions: </strong>The prevalence in Italy of VSS is around 1%. However, there is a limited tendency for affected individuals to seek medical attention, leading to a low rate of diagnosis and treatment.</p>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142344105","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Quality of life, depression and anxiety in cerebral amyloid angiopathy: A cross-sectional study.","authors":"Kanishk Kaushik, Natasha G Waslam, Reinier G J van der Zwet, Sabine Voigt, Rosemarie van Dort, Erik W van Zwet, Gisela M Terwindt, Ellis S van Etten, Marieke J H Wermer","doi":"10.1111/ene.16476","DOIUrl":"https://doi.org/10.1111/ene.16476","url":null,"abstract":"<p><strong>Background and purpose: </strong>Data on health-related quality of life (HRQoL) and mood in cerebral amyloid angiopathy (CAA), a disease characterized by stroke and cognitive decline, are limited. We aimed to investigate the impacted domains of life, value-based HRQoL and the prevalence of depression and anxiety in patients with CAA.</p><p><strong>Methods: </strong>We conducted a cross-sectional study of patients with sporadic (s)CAA, lobar dominant mixed CAA and hypertensive arteriopathy (mixed CAA-HTA), or Dutch-type hereditary (D-)CAA, from prospective outpatient clinic cohorts. Participants completed four questionnaires: the EuroQoL 5 dimensions 5-level questionnaire (EQ-5D-5L; EQ-VAS for visual analogue scale; EQ-Index for index rating), the Short-Form 36 questionnaire (SF-36), the Center for Epidemiologic Studies-Depression scale (CES-D), and the Hospital Anxiety and Depression Scale (HADS; -D for depression and -A for anxiety subscales). The EQ-5D-5L assesses the domains mobility, self-care, usual activities, pain/discomfort and anxiety/depression. The SF-36 domains are physical functioning, social functioning, physical role limitations, emotional role limitations, mental health, vitality, bodily pain, and general health perceptions. We compared age- and sex- adjusted HRQoL (SF-36 domain scores; EQ-VAS; EQ-Index) to the Dutch normative population, and estimated the prevalences of current depression (either: history of depression or current use of antidepressants, with high score on CES-D [≥16] and/or HADS-D [≥8]; or high score on both depression questionnaires) and anxiety (HADS-A ≥ 8).</p><p><strong>Results: </strong>We included 179 patients: 77 with sCAA (mean age: 72 years, women: 36%), 31 with mixed CAA-HTA (68 years, women: 29%), and 71 with D-CAA (56 years, women: 52%, symptomatic: 35 [49%]). The SF-36 profiles of all patient groups were similar, negatively differing from the norm in emotional role functioning, social functioning and vitality. The EQ-VAS score of patients (mean [SD] sCAA: 76 [16], D-CAA: 77 [15]) was similar to the norm, as was the EQ-Index score. Fifteen patients with sCAA (23%; 95% confidence interval [CI] 13%-33%), seven with mixed CAA-HTA (27%; 95% CI 10%-44%) and eight with D-CAA (14%; 95% CI 5%-22%) were noted as having depression. The prevalences of anxiety and depression were equivalent.</p><p><strong>Conclusions: </strong>We found that CAA influenced emotional role functioning and aspects linked to social engagement consistently across its subtypes. One quarter of patients exhibited depressive or anxiety symptoms. Recognizing these impacted domains could enhance overall well-being.</p>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142282442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring amyotrophic lateral sclerosis through the visual system: A systematic review.","authors":"Raoul K Khanna, Sophie Catanese, Geoffroy Mortemousque, Nicolas Mureau, Patrick Emond, Pierre-Jean Pisella, Hélène Blasco, Philippe Corcia","doi":"10.1111/ene.16475","DOIUrl":"https://doi.org/10.1111/ene.16475","url":null,"abstract":"<p><strong>Background and purpose: </strong>The human visual system relies on neural networks throughout the brain that are easily accessible for tests exploring eye structures and movements. Over the past two decades, investigations have been carried out on both afferent and efferent components of the visual system in people with amyotrophic lateral sclerosis (ALS). This approach might represent an innovative biomarker research strategy to better characterise the phenotypic variability of ALS. The purpose of this review was to determine whether exploring the visual system of patients with ALS (pwALS) is an effective strategy.</p><p><strong>Methods: </strong>The Medline and Web of science databases were searched for studies with terms relating to ALS and vision. Of 1146 references identified, 43 articles were included.</p><p><strong>Results: </strong>In this review article, both afferent and efferent components of the visual system were found to be impaired in pwALS in the absence of visual complaint, thereby contributing to the hypothesis that ALS is a multisystem disease with sensory involvement. Of note, some areas of the eye remain unexplored (i.e., tears, and retinal function using electroretinography).</p><p><strong>Conclusions: </strong>According to the findings available in the literature, investigating the oculomotor system and exploring the ocular surface could represent two key promising strategies to identify new diagnostic biomarkers in pwALS. Further longitudinal studies are needed to identify relevant indicators of disease progression and response to therapeutic intervention.</p>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142282438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}