Current Opinion in Neurology最新文献

{"title":"Recent progress in emerging therapeutics and evaluation of oculopharyngeal muscular dystrophy.","authors":"Fien Oelbrandt, Nicol Voermans, Jodi Warman-Chardon","doi":"10.1097/WCO.0000000000001508","DOIUrl":"10.1097/WCO.0000000000001508","url":null,"abstract":"<p><strong>Purpose of review: </strong>Oculopharyngeal muscular dystrophy (OPMD) is a late-onset, genetic, neuromuscular disorder causing progressive ptosis, dysphagia and proximal muscle weakness. This review highlights emerging therapeutic strategies and recent advances in understanding the clinical phenotypes, genetic mechanisms and pathophysiology of OPMD.</p><p><strong>Recent findings: </strong>OPMD results from a short polyalanine expansion in the nuclear polyadenosine-binding protein 1 ( PABPN1 ) gene. Current treatment is primarily surgical to alleviate ptosis and dysphagia; however, no disease-modifying therapy is currently available. Emerging therapeutic approaches focus on reducing intranuclear inclusions containing aggregates of expanded PABPN1 , a characteristic pathological feature of muscle biopsies in OPMD. Another promising strategy uses gene therapy to suppress mutant PABPN1 expression while increasing expression of the wild-type protein. Advancing OPMD therapies will require coordinated trial-readiness resources - including natural history data, validated outcome measures and biomarkers, patient registries, epidemiological and health-economic evidence, and patient-association engagement - to support efficient clinical development, reimbursement, and equitable access.</p><p><strong>Summary: </strong>Care for OPMD patients currently remains primarily supportive. However, advances in the genetic understanding of OPMD and in gene therapy have led to promising potential treatment approaches providing hope for future disease-modifying therapies.</p>","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"483-490"},"PeriodicalIF":4.7,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148789415","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":"What can we learn from eye movements in movement disorders and Parkinson's disease?","authors":"Parthvi Ravat, Fatema F Ghasia, Aasef G Shaikh","doi":"10.1097/WCO.0000000000001501","DOIUrl":"10.1097/WCO.0000000000001501","url":null,"abstract":"<p><strong>Purpose: </strong>Studies of eye movements have evolved from clinical phenomenology to a probe of neural circuitry, cognition, and behavior offering a powerful, noninvasive window into nervous system function. In Parkinson's disease (PD), ocular motor control has emerged as a uniquely informative model system, reflecting dysfunction across motor, cognitive, and executive domains.</p><p><strong>Recent findings: </strong>Recent advances span four interconnected areas: executive behavior and cognition, gait and freezing of gait (FOG), neuromodulation, and machine learning. Antisaccades and related paradigms reveal early and progressive executive dysfunction in PD, linked to dopaminergic disruption of fronto-striatal and basal ganglia circuits. Naturalistic eye-tracking metrics further act as proxy markers of cognition, planning, and emotion processing. Oculomotor abnormalities also have direct functional consequences for visual search, walking, turning, and FOG, with shared neural substrates in frontal cortex, basal ganglia, and mesencephalic locomotor networks. Deep brain stimulation provides causal insight into these circuits, demonstrating target-, parameter-, and task-specific trade-offs between motor facilitation and inhibitory control. Finally, machine learning and emerging virtual reality (VR)- and mobile-based eye-tracking technologies enable high-dimensional analysis, early diagnosis, cognitive staging, and prognostic prediction, including identification of prodromal FOG.</p><p><strong>Summary: </strong>Collectively the research has offered scalable biomarkers and mechanistic insight that bridge cognition, movement, and neuromodulation.</p>","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"415-422"},"PeriodicalIF":4.7,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148216653","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":"Dystonia: from phenotypes to genetics and therapeutic advances.","authors":"Han-Lin Chiang, Yih-Chih Kuo, Chin-Hsien Lin","doi":"10.1097/WCO.0000000000001503","DOIUrl":"10.1097/WCO.0000000000001503","url":null,"abstract":"<p><strong>Purpose of review: </strong>This review summarizes recent advances in the clinical classification, diagnostic approaches, genetic spectrum and therapeutic strategies for dystonia.</p><p><strong>Recent findings: </strong>Dystonia is a heterogeneous movement disorder that may present as an isolated motor syndrome or as part of a broader neurological condition. Early recognition of its clinical features is essential for accurate diagnosis and timely treatment. Recent advances in genetics have identified multiple causative genes and provided insights into the molecular basis of dystonia; however, mechanism-based therapies remain limited. We highlight updated clinical classification systems and diagnostic algorithms, along with key clinical features that may indicate specific genetic forms of dystonia. Emerging insights into neuronal and circuit-level dysfunction are discussed, emphasizing underlying molecular mechanisms. In addition, we review current treatment strategies, including pharmacological therapies, botulinum toxin injections, and neuromodulation approaches such as deep brain stimulation.</p><p><strong>Summary: </strong>Integrating clinical phenotyping with genetic and mechanistic insights provides a more precise diagnostic framework for dystonia. This approach facilitates improved patient stratification and lays the foundation for the development of mechanism-targeted therapies, ultimately advancing precision medicine in dystonia.</p>","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"423-438"},"PeriodicalIF":4.7,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148216671","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":"Movement disorders and Parkinson's disease: collaborative and interdisciplinary research to advance understanding of neural circuit dysfunction, pathophysiology, and care: new horizons in technology, neuroimaging, neurophysiology, and genetics toward personalized medicine.","authors":"Marie Vidailhet","doi":"10.1097/WCO.0000000000001507","DOIUrl":"https://doi.org/10.1097/WCO.0000000000001507","url":null,"abstract":"","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":"39 4","pages":"387-388"},"PeriodicalIF":4.7,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148367164","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":"Functional movement disorders: diagnosis, pathophysiology, and treatment.","authors":"Angéline Maillard, Elsa Mhanna, Hadi Faiz, Béatrice Garcin","doi":"10.1097/WCO.0000000000001504","DOIUrl":"10.1097/WCO.0000000000001504","url":null,"abstract":"<p><strong>Purpose of review: </strong>Functional movement disorders (FMD) are common and potentially reversible causes of movement disorders, yet they remain under-recognized and frequently misdiagnosed.</p><p><strong>Recent findings: </strong>Diagnosis has shifted from an exclusion-based model to a positive rule-in approach grounded in positive clinical signs such as inconsistency (distractibility and variability), with electrophysiology providing useful support in selected cases. Current pathophysiological models suggest that FMD arise from interacting abnormalities in predictive coding, sensorimotor integration, altered sense of agency, maladaptive attentional focus, and disrupted limbic-motor network connectivity. These mechanisms may contribute both to symptom generation and maintenance. Prognosis is variable and often guarded, highlighting the importance of early diagnosis and timely intervention. Management should rely on a clear and validating explanation of the diagnosis, individualized rehabilitation focused on movement retraining, and tailored psychotherapy addressing perpetuating cognitive, behavioral, and emotional factors. Pharmacological treatment has a mainly an adjunctive role, particularly for comorbid psychiatric symptoms, pain, and sleep disturbances.</p><p><strong>Summary: </strong>FMD require an integrated, multidisciplinary, and patient-centered approach to optimize functional recovery and long-term outcomes.</p>","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"389-395"},"PeriodicalIF":4.7,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148210554","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":"Editorial introduction.","authors":"Marie Vidailhet","doi":"10.1097/WCO.0000000000001506","DOIUrl":"10.1097/WCO.0000000000001506","url":null,"abstract":"","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":"39 4","pages":"v"},"PeriodicalIF":4.7,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148367216","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":"Multimodal mapping of balance dysfunction in Parkinson's disease: a consensus roadmap for research and intervention.","authors":"Aasef G Shaikh, Chrystalina Antoniades, Qadeer Arshad, Kailash Bhatia, Bastiaan Bloem, Nicolass Bohnen, Mark G Carpenter, Nicholas D'Cruz, Mihalis Doumas, Stewart A Factor, Alfonso Fasano, Alessandro Gulberti, Jeffrey Hausdorf, Diego Kaski, Martina Mancini, Sanjay Pandey, Caroline Paquette, Janet Rucker, Barry Seemungal, Tuhin Virmani, Vivian Weerdesteyn, William Young, Adolfo M Bronstein","doi":"10.1097/WCO.0000000000001502","DOIUrl":"10.1097/WCO.0000000000001502","url":null,"abstract":"<p><strong>Purpose of review: </strong>Balance depends on accurate perception of self-motion and verticality and on multisensory integration for stance, and gait. In Parkinson's disease, balance is commonly impaired and variably affected by treatment. Although vestibular and multisensory contributions are increasingly recognized, progress is limited by fragmented evidence, inconsistent methods, and artifact-prone measures. We provide a consensus roadmap across four domains - video-oculography/vHIT, VEMPs, posturography, and perceptual paradigms - to improve clinical translation of balance research in Parkinson's disease.</p><p><strong>Recent findings: </strong>An interdisciplinary taskforce conducted a comprehensive literature review and a modified Delphi process (≥80% agreement), using virtual meetings, surveys, and an in-person consensus session. Oculography/vHIT shows largely preserved aVOR in Parkinson's disease but is vulnerable to Parkinson's disease specific artifacts, requiring standardization. VEMPs relate to brainstem and non-motor features but are limited by EMG-dependent confounds. Posturography reveals impaired multisensory integration with visual dependence and cholinergic contributions; reactive-capacity measures outperform sway alone. Perceptual paradigms show task-specific distortions and increased variability linked to axial/postural syndromes.</p><p><strong>Summary: </strong>This consensus offers a practical roadmap, de-emphasize aVOR/vHIT as primary unsteadiness outcomes; use VEMPs as ancillary measures; prioritize posturography probing adaptability and reactive stepping; integrate wearables and neurochemical imaging; and adopt consortium-level minimum datasets to enable reproducible, phenotype-aware advances in Parkinson's disease balance research.</p>","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"403-414"},"PeriodicalIF":4.7,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148263759","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":"Paroxysmal movement disorders: an update on genetics, mechanisms, and emerging therapeutic strategies.","authors":"Maria Makrygianni, Roberto Erro, Maria Stamelou","doi":"10.1097/WCO.0000000000001495","DOIUrl":"10.1097/WCO.0000000000001495","url":null,"abstract":"<p><strong>Purpose of review: </strong>This review will discuss the latest genetic and pathophysiological spectrum of paroxysmal movement disorders and emerging therapeutic strategies.</p><p><strong>Recent findings: </strong>Paroxysmal movement disorders comprise a heterogenous group of rare movement disorders characterized by intermittent episodes of spontaneous or triggered attacks of hyperkinetic movement disorders. Genetic spectrum has evolved offering new insights in the pathophysiological mechanisms of known genes as PRRT2 and new ones as TMEM151A . Also, SCA 27B -related adult-onset cerebellar ataxia has emerged as a new treatable cause of episodic ataxia.</p><p><strong>Summary: </strong>Exploring new pathophysiological associations can offer diagnostic precision and development of new therapeutic directions.</p>","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"396-402"},"PeriodicalIF":4.7,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147627396","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":"Tourette syndrome: brain neurophysiology, circuit dysfunction, and neuromodulation across invasive and noninvasive approaches.","authors":"Yulia Worbe, Edouard Courtin","doi":"10.1097/WCO.0000000000001500","DOIUrl":"10.1097/WCO.0000000000001500","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Purpose of review: &lt;/strong&gt;We review recent electrophysiological advances that have refined our understanding of tic generation in Tourette syndrome by characterizing dysfunction across cortico-striato-pallido-thalamo-cortical (CSPTC) circuits and their time-resolved dynamics. We integrate evidence across spatial scales - from single-unit activity to large-scale network coupling - and examine how these findings provide a mechanistic framework for interpreting both invasive and noninvasive neuromodulation approaches. Finally, we discuss how electrophysiological signatures of tics and premonitory urges may serve as candidate biomarkers to guide future, dynamically informed interventions.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Recent findings: &lt;/strong&gt;At the microscale, intraoperative recordings indicate that GPi neurons in Tourette syndrome exhibit a burst-pause firing pattern with phasic modulation preceding tic onset, consistent with transient pallidal disinhibition. At the mesoscale, LFP recordings from centromedian nucleus and aGPi show increased low-frequency (3-12 Hz) power and pallido-thalamic coherence during tics, accompanied by reduced phase synchrony, suggesting dysrhythmic rather than coordinated network activity. At the macroscale, combined intracranial and scalp EEG recordings demonstrate that thalamo-frontal alpha-band connectivity progressively declines in the ~1.3 s preceding tic onset, propagating from sensorimotor to prefrontal regions. Importantly, these pretic dynamics are captured by measures of inter-regional coupling rather than local power, highlighting the relevance of distributed network interactions. These findings are beginning to inform neuromodulation strategies across modalities. Deep brain stimulation (DBS) targeting thalamic or pallidal regions provides clinically meaningful tic reduction, while connectomic analyses emphasize the role of distributed fibre pathways over single anatomical targets. In parallel, noninvasive approaches show mixed results: cortical stimulation techniques such as rTMS and tDCS have yielded inconsistent effects, whereas peripheral rhythmic stimulation, such as 10 Hz median nerve stimulation, has demonstrated efficacy in controlled trials, potentially through modulation of sensorimotor network dynamics.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Summary: &lt;/strong&gt;Electrophysiological evidence across spatial scales supports a model of Tourette syndrome as a disorder of dynamic CSPTC circuit dysfunction. At the cellular level, GPi neurons exhibit a sparse but high-intensity bursting regime, with activity changes preceding tic onset. At the population level, low-frequency oscillations in pallido-thalamic networks track tic severity and distinguish tics from voluntary movements. At the network level, thalamo-frontal alpha-band coupling appears to exert a stabilizing influence, whose progressive reduction precedes tic expression. Together, these findings suggest that tic generation arises from temporally evolving disruptions in distrib","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"439-446"},"PeriodicalIF":4.7,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148216682","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":"MRI in multiple sclerosis: progress in in-vivo pathobiology.","authors":"Rosa Cortese, Alessia Bianchi, Nicola De Stefano","doi":"10.1097/WCO.0000000000001487","DOIUrl":"10.1097/WCO.0000000000001487","url":null,"abstract":"<p><strong>Purpose of review: </strong>Recent advances in magnetic resonance imaging (MRI) have substantially expanded the ability to investigate multiple sclerosis (MS) pathobiology in-vivo. Beyond its diagnostic role, MRI now captures blood-brain barrier dysfunction, demyelination, neuroaxonal loss, glial activation, and network disruption across disease stages. This review is timely as accumulating evidence challenges a purely inflammation-driven (\"outside-in\") model of MS and supports interacting central nervous system-intrinsic (\"inside-out\") mechanisms that contribute to progression and disability.</p><p><strong>Recent findings: </strong>Conventional MRI markers, such as gadolinium-enhancing lesions and T2 lesion burden, primarily reflect focal inflammatory activity. Advanced imaging techniques reveal diffuse tissue vulnerability, chronic active lesions, meningeal inflammation, metabolic dysfunction, and network failure, often independent of acute inflammation. These biomarkers bridge focal lesion pathology with smoldering, compartmentalized, and neurodegenerative processes.</p><p><strong>Summary: </strong>MRI supports a unified model of MS in which inflammatory, metabolic, and neurodegenerative mechanisms interact rather than follow a single linear cascade. Mechanistic MRI biomarkers enable biological stratification of patients, inform prognosis, and provide sensitive outcome measures for neuroprotective and remyelinating therapies, moving the field beyond lesion counting toward precision medicine.</p>","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"232-239"},"PeriodicalIF":4.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147615891","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}