Neurodegenerative Diseases最新文献

Sex Differences in Biofluid Biomarkers for Alzheimer's Disease. 阿尔茨海默病生物流体标志物的性别差异

IF 1.9 4区医学

Neurodegenerative Diseases Pub Date : 2025-05-26 DOI: 10.1159/000545717

Mari Aksnes

{"title":"Sex Differences in Biofluid Biomarkers for Alzheimer's Disease.","authors":"Mari Aksnes","doi":"10.1159/000545717","DOIUrl":"https://doi.org/10.1159/000545717","url":null,"abstract":"Background: Alzheimer's disease (AD), the most common cause of dementia, affects twice as many women as men. Moreover, sex is increasingly recognised as an important factor for AD, influencing symptom presentation, progression, disease biology, and treatment responses. In parallel, AD biomarkers are becoming more accessible with the discovery of specific and accurate blood-based biomarkers and their incorporation in AD diagnostic frameworks. This narrative review aimed to summarise sex differences in the concentration and interpretation of biofluid biomarkers for AD.Summary: Biological sex may influence both the concentration and interpretation of biofluid biomarkers for AD pathology such as amyloid-β aggregation, tau neurofibrillary tangles, neurodegeneration, or neuroinflammation. While some biofluid biomarkers display consistent sex differences in absolute levels, most biomarker levels have not been found to differ consistently by sex. Nonetheless, even biomarkers that do not differ in absolute levels display sex-specific associations with clinically relevant variables such as brain atrophy, cognitive impairment, and disease progression.Key message: Sex may influence the interpretation of AD biomarkers depending on their context of use, and more research is required to develop sex-specific guidelines. Future research should aim to study sex differences and sex-specific associations with variables of interest, as well as the underlying factors driving sex differences in AD.","PeriodicalId":19115,"journal":{"name":"Neurodegenerative Diseases","volume":" ","pages":"1-11"},"PeriodicalIF":1.9,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151372","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

The genetic architecture of Parkinson's disease in Morocco: highlighting a predominance of Mendelian genes. 摩洛哥帕金森病的遗传结构：突出孟德尔基因的优势。

IF 1.9 4区医学

Neurodegenerative Diseases Pub Date : 2025-05-20 DOI: 10.1159/000546424

Ahmed Bouhouche, Houyam Tibar, Wafa Regragui

{"title":"The genetic architecture of Parkinson's disease in Morocco: highlighting a predominance of Mendelian genes.","authors":"Ahmed Bouhouche, Houyam Tibar, Wafa Regragui","doi":"10.1159/000546424","DOIUrl":"https://doi.org/10.1159/000546424","url":null,"abstract":"Background: Parkinson's disease (PD), although widely heterogeneous and manifesting with numerous motor and non-motor symptoms, presents clinically as a single entity worldwide. Its genetic causes are also heterogeneous and include highly penetrant variants in a single gene representing rare monogenic forms, and rare or common variants conferring a relative disease risk representing more frequent multigenic forms. Most of these variants have been discovered in patients of European ancestry. Since the genetic basis of PD can vary significantly between populations due to differences in allele frequencies, little is known about the genetics of PD in other populations, particularly from Africa. Morocco, located in a region of North Africa, constitutes a subcontinent known for a weak external genetic influence and for a local genetic continuity for millennia, which makes it a region of interest to study the genetic causes of PD.Summary: This review aims to summarize published research data on the genetic profile of PD patients from the Moroccan population to describe its genetic architecture. Unlike in Western countries, Parkinson's disease in Morocco is predominantly a Mendelian disease reaching up to 50%, due to the high prevalence of the LRRK2 G2019S dominant variant and to relatively less frequent PRKN and PINK1 recessive variants due to the high rate of consanguinity. Additionally, rare high-risk variants in LRRK2, VPS13C, MAPT, and POLG, in oligo- or polygenic ways, may contribute to increasing the genetic risk of the disease.Key messages: We therefore show that the genetic architecture of PD in Morocco, a country in the subcontinent of North Africa, was different from that of sub-Saharan Africa and the rest of the world. This will help improve diagnostic accuracy, subdivide the clinical variability of the disease into groups of common genetic and biological causes for a better therapeutic management strategy, and test molecules from ongoing clinical trials.","PeriodicalId":19115,"journal":{"name":"Neurodegenerative Diseases","volume":" ","pages":"1-15"},"PeriodicalIF":1.9,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111423","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

Characteristics of Neuromuscular Ultrasound in Patients with Amyotrophic Lateral Sclerosis. 肌萎缩侧索硬化症患者的神经肌肉超声特征。

IF 1.9 4区医学

Neurodegenerative Diseases Pub Date : 2025-05-15 DOI: 10.1159/000546425

Jieying Wu, Hongsong Song, Mukadas Arkin, Shuo Zhang, Xiao Huang, Dongsheng Fan, Yingsheng Xu

{"title":"Characteristics of Neuromuscular Ultrasound in Patients with Amyotrophic Lateral Sclerosis.","authors":"Jieying Wu, Hongsong Song, Mukadas Arkin, Shuo Zhang, Xiao Huang, Dongsheng Fan, Yingsheng Xu","doi":"10.1159/000546425","DOIUrl":"https://doi.org/10.1159/000546425","url":null,"abstract":"Introduction: Neuromuscular ultrasound has been increasingly used in the detection and diagnosis of amyotrophic lateral sclerosis (ALS), commonly characterized by peripheral nerve atrophy, degeneration, and muscle fasciculations. The aim of this study was to assess the ultrasound characteristics of ALS patients.Methods: A total of 67 consecutive patients with sporadic ALS and 19 with ALS mimics (63.16% peripheral neuropathy) were recruited. Ultrasound and electrophysiological examinations were performed; the peripheral nerve cross-sectional area (CSA) and fasciculation grades were compared between the groups, and correlations between ultrasound and electrophysiological data in ALS patients were determined.Results: ALS patients had smaller proximal median and ulnar nerve CSAs than those of ALS mimics, who exhibited asymmetric changes. Fasciculation differences in the trapezius, triceps brachii, extensor digitorum communis, thenar, and first dorsal interosseous muscles were observed. In ALS patients, the CSA and fasciculation relative scores were correlated with electrophysiological indicators.Conclusion: Ultrasound is a valuable tool for monitoring peripheral nerve CSA and muscle fasciculations, both of which correlate with electrophysiological indices, in ALS patients.","PeriodicalId":19115,"journal":{"name":"Neurodegenerative Diseases","volume":" ","pages":"1-19"},"PeriodicalIF":1.9,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144079252","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

The glymphatic system in cerebrospinal fluid dynamics - clinical implications, its evaluation, and application to therapeutics. 脑脊髓液动力学中的淋巴系统——临床意义、评价和治疗应用。

IF 1.9 4区医学

Neurodegenerative Diseases Pub Date : 2025-05-14 DOI: 10.1159/000546286

Masahiro Ohara, Takaaki Hattori

{"title":"The glymphatic system in cerebrospinal fluid dynamics - clinical implications, its evaluation, and application to therapeutics.","authors":"Masahiro Ohara, Takaaki Hattori","doi":"10.1159/000546286","DOIUrl":"https://doi.org/10.1159/000546286","url":null,"abstract":"Background: The glymphatic system is a waste clearance system that facilitates the efficient removal of interstitial solutes, including neurotoxic substances such as β-amyloid, from the central nervous system. Numerous studies have highlighted its pivotal role in the pathophysiology of neurodegenerative diseases and cerebrospinal fluid (CSF) disorders. A comprehensive understanding and accurate evaluation of the glymphatic system are of significant clinical importance. Furthermore, emerging evidence suggests that modulating glymphatic activity holds therapeutic potential, including enhancing drug delivery across the brain.Summary: This review consolidates current insights into the glymphatic system, addressing areas of consensus as well as ongoing controversies. The relationship between glymphatic dysfunction and CSF disorders is discussed, alongside advancements in evaluation methodologies. Additionally, therapeutic applications of glymphatic modulation are summarized, particularly its role in optimizing drug distribution within the brain.Key messages: This review provides a comprehensive overview of the current knowledge on the glymphatic system and highlights imaging techniques used to assess human glymphatic function, including magnetic resonance imaging (MRI) with contrast agents, diffusion tensor imaging, and emerging techniques such as MRI with 17O-labeled water. Furthermore, the therapeutic implications of glymphatic modulation are discussed, and directions for future research are proposed.","PeriodicalId":19115,"journal":{"name":"Neurodegenerative Diseases","volume":" ","pages":"1-25"},"PeriodicalIF":1.9,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144079253","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

Erratum. 勘误表。

IF 1.9 4区医学

Neurodegenerative Diseases Pub Date : 2025-05-12 DOI: 10.1159/000545725

引用次数: 0

Active immunization targeting amyloid β for the treatment of Alzheimer's disease. 靶向β淀粉样蛋白的主动免疫治疗阿尔茨海默病。

IF 1.9 4区医学

Neurodegenerative Diseases Pub Date : 2025-05-10 DOI: 10.1159/000546287

Olivia Triplett, Nicole Varda, Boris Decourt, Rodrigo Vasconcellos, Marwan N Sabbagh

{"title":"Active immunization targeting amyloid β for the treatment of Alzheimer's disease.","authors":"Olivia Triplett, Nicole Varda, Boris Decourt, Rodrigo Vasconcellos, Marwan N Sabbagh","doi":"10.1159/000546287","DOIUrl":"https://doi.org/10.1159/000546287","url":null,"abstract":"Background: Alzheimer's disease (AD) is the most prevalent neurodegenerative condition worldwide. It is characterized by the formation of amyloid beta (Aβ) plaques in the brain and by the accumulation of neurofibrillary tangles; the disease is marked by cognitive decline and memory impairment over time. Although cholinesterase inhibitors and N-methyl-D-aspartate receptor antagonists have been used to relieve symptoms, immunotherapies to treat the disease itself by targeting removal of amyloid are now beginning to be applied clinically. However, methods that allow the control of AD symptoms and that would require only a few clinical follow-ups are often preferred by patients. Thus, active immunization, or vaccination, against Aβ and tau is still being explored as a possible therapeutic intervention.Summary: This review aims to describe ongoing and discontinued immunization trials to treat AD. We conducted a comprehensive review of the literature to analyze the current status of vaccinations for AD. We examined and summarized the studies and clinical trials that explored the efficacy, safety, and challenges associated with this therapeutic approach.Key messages: This review highlights the potential for vaccination development to treat AD, including its efficacy, associated complications, and limitations. Much progress has been made over the past two decades, but challenges remain. Immunization is a promising avenue for treating or preventing symptomatic AD, offering potential benefits beyond symptomatic relief. Because challenges such as immunogenicity and safety profiles need to be addressed, further research and development is necessary to meet the growing demand for patient-acceptable, effective AD treatments.","PeriodicalId":19115,"journal":{"name":"Neurodegenerative Diseases","volume":" ","pages":"1-22"},"PeriodicalIF":1.9,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144035803","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

Fluid and waste clearance in central nervous system health and diseases. 液体和废物清除在中枢神经系统的健康和疾病。

IF 1.9 4区医学

Neurodegenerative Diseases Pub Date : 2025-05-07 DOI: 10.1159/000546018

Marie-Renee El Kamouh, Stéphanie Lenck, Stéphane Lehericy, Helene Benveniste, Jean-Léon Thomas

引用次数: 0

Anti-Amyloid Monoclonal Antibodies for the Treatment of Alzheimer Disease: Intersocietal Recommendations for Their Appropriate Use in Switzerland. 抗淀粉样蛋白单克隆抗体治疗阿尔茨海默病：其在瑞士适当使用的社会间建议。

IF 1.9 4区医学

Neurodegenerative Diseases Pub Date : 2025-04-14 DOI: 10.1159/000545799

Ansgar Felbecker, Olivier Rouaud, Aurelien Lathuiliere, Gilles Allali, Marc Sollberger, Tatjana Meyer-Heim, Andreas U Monsch, Karl-Olof Lövblad, Stefanie Becker, Nadège Barro-Belaygues, Julius Popp, Markus Bürge, Kathrin Lindheimer, Anton Gietl, Hans H Jung, Dan Georgescu, Rafael Meyer, Giovanni B Frisoni

引用次数: 0

Anti-amyloid treatments, a therapeutic revolution, ready for Europe. 抗淀粉样蛋白疗法，一场治疗革命，准备在欧洲推出。

IF 1.9 4区医学

Neurodegenerative Diseases Pub Date : 2025-04-12 DOI: 10.1159/000545800

Paolo Salvioni Chiabotti, Giulia Bommarito, Patrik Michel, Beatrice Pizzarotti, Fabrizio Piazza, Federica Agosta, Ralf J Jox, Simon Wieser, Philippe Ryvlin, Giovanni B Frisoni, Bruno Dubois, Olivier Rouaud, Gilles Allali

引用次数: 0

Alzheimer's Disease, β-Amyloid Peptides, and Ubiquitin-Proteasome System: Nutritherapeutic Insights. 阿尔茨海默病，β-淀粉样肽和泛素-蛋白酶体系统：营养治疗的见解。

IF 1.9 4区医学

Neurodegenerative Diseases Pub Date : 2025-03-25 DOI: 10.1159/000545170

Philippe Yves Rémy Simon, Renaud David

{"title":"Alzheimer's Disease, β-Amyloid Peptides, and Ubiquitin-Proteasome System: Nutritherapeutic Insights.","authors":"Philippe Yves Rémy Simon, Renaud David","doi":"10.1159/000545170","DOIUrl":"10.1159/000545170","url":null,"abstract":"Background: Alzheimer's disease - an age-related neurodegenerative disorder leading to progressive cognitive impairment - is characterized by an intracerebral accumulation of soluble β-amyloid (Aβ) oligomers, followed by the appearance of abnormally ubiquitinylated neurofibrillary tangles - a process associated with a chronic inflammation. The systematic presence of ubiquitinylated inclusions reflects a decrease in the proteasome activity due to (and contributing to) the presence of Aβ oligomers - a central dysfunction in the etiology of the disease.Summary: The involvement of the ubiquitin-proteasome system opens new therapeutic perspectives for both prevention and treatment. In particular, the potential for synergistic strategies combining diet-derived proteasome activators, immunoproteasome inhibitors, and modulators of Aβ peptide aggregation to prevent, delay or even reverse disease progression over time is currently arousing growing interest.Key messages: From that perspective, and in light of the recent advances in the understanding of the key molecular and cellular mechanisms underlying Alzheimer's disease pathogenesis, the present review highlights the mechanisms of action and the preventive and therapeutic potential of some diet-derived bioactive compounds and other natural substances of interest. This article is a translated, updated, and expanded version of an article originally published in French in Médecine/Sciences, August/September 2023 (https://doi.org/10.1051/medsci/2023094).","PeriodicalId":19115,"journal":{"name":"Neurodegenerative Diseases","volume":" ","pages":"1-12"},"PeriodicalIF":1.9,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710710","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