Journal of neural transmission (Vienna, Austria : 1996)最新文献

{"title":"Marked intrafamilial phenotypic heterogeneity associated with the CSF1R c.2539G>A pathogenic variant in a Japanese family.","authors":"Yue Luo, Kazuyuki Noda, Kensuke Daida, Yuanzhe Li, Hiroyo Yoshino, Taku Hatano, Nobutaka Hattori, Manabu Funayama","doi":"10.1007/s00702-026-03310-0","DOIUrl":"https://doi.org/10.1007/s00702-026-03310-0","url":null,"abstract":"<p><p>Pathogenic variants in the colony-stimulating factor 1 receptor (CSF1R) gene cause CSF1R-related disorder (CSF1R-RD), which encompasses a broad phenotypic spectrum including a classical adult-onset leukoencephalopathy phenotype. Within this spectrum, considerable phenotypic heterogeneity has been increasingly recognized. The pathogenic missense variant c.2539G>A has been reported in a small number of patients with CSF1R-associated leukoencephalopathy; however, its associated clinical spectrum remains incompletely characterized. To characterize the clinical spectrum associated with the CSF1R c.2539G>A pathogenic variant in a Japanese family with CSF1R-RD. Clinical evaluations and genetic analyses, including whole-exome sequencing and Sanger sequencing, were performed in available family members. We detected the same heterozygous CSF1R c.2539G>A pathogenic variant in four members from a Japanese family. Two affected individuals presented with parkinsonism, cognitive decline, and white matter abnormalities typical of CSF1R-RD, whereas the other affected individual exhibited a phenotype consistent with typical Parkinson's disease (PD), without apparent cognitive impairment or radiological white matter abnormalities. The fourth individual initially had no overt neurological symptoms despite white matter changes on MRI and subsequently developed spastic gait with pyramidal signs, indicating intrafamilial phenotypic variability. These findings broaden the phenotypic spectrum associated with the CSF1R c.2539G>A pathogenic variant and highlight marked intrafamilial phenotypic heterogeneity, including a PD-like phenotype without typical cognitive or white matter abnormalities.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149187778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of transcranial direct current stimulaton on ataxia: a scoping review.","authors":"Mabel M Macas, Jia Dong James Wang, Roland Dominic G Jamora, Eng-King Tan","doi":"10.1007/s00702-026-03306-w","DOIUrl":"https://doi.org/10.1007/s00702-026-03306-w","url":null,"abstract":"<p><p>Cerebellar ataxias are a diverse group of hereditary and acquired disorders that impair balance, gait, posture and ocular movements. With limited treatment options, particularly in hereditary forms, neuromodulation has emerged as a promising therapeutic approach particularly the transcranial direct current stimulation (tDCS). This scoping review aims to discuss the role of tDCS as a potential therapy in reducing ataxia symptoms in both hereditary and acquired forms. A total of 787 studies were found after searching Pubmed, EMBASE, and Cochrane. After removing 273 duplicates, 514 studies remained for title and abstract screening. Of these, 387 studies were excluded, leaving 127 studies for full-text assessment. Following retrieval of full text, 26 was assessed for eligibility. This review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) guidelines. A comprehensive literature search was performed using PubMed, EMBASE, and Cochrane databases. Two independent reviewers screened studies through title/abstract and full-text review, with disagreements resolved by discussion or adjudication by two additional reviewers when necessary. We included 18 studies for the final analysis. Most studies reviewed showed that tDCS is a potential option for the treatment of ataxia, however, differences among participants, neuromodulation techniques, or trial protocols may have led to differences in the clinical outcomes. Our review highlights that the vast majority of the randomized controlled studies of tDCS in neurodegenerative ataxias have demonstrated clinical beneficial effect. There are preliminary observations that tDCS in combination therapy with rehabilitation or exercise may provide greater or more functional improvements. Future multicenter studies with long term follow up of individual disease groups, supported by clinical, imaging and biological marker measurements will help address the current limitations.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149187784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic approach and treatment options for myoclonus.","authors":"Cezar Thomas Suratos, Jane Marice Pascual, Arlene Ng, Rosalia Teleg, Victor S C Fung","doi":"10.1007/s00702-026-03303-z","DOIUrl":"https://doi.org/10.1007/s00702-026-03303-z","url":null,"abstract":"<p><p>Myoclonus is a hyperkinetic movement disorder characterized by sudden, brief involuntary movements that are shock-like and/or jerky. Positive myoclonus is generated by abrupt muscular contractions, which occur synchronously in the affected body part, while negative myoclonus, also referred to as asterixis, results from a brief interruption or silencing of muscle activity leading to a sudden movement due to loss of muscle tone. Myoclonus manifests across a highly heterogeneous group of neurologic and systemic disorders. Due to its varied clinical presentations and multiple etiologies, diagnosing and managing myoclonus in clinical practice remains challenging. The authors retrieved publications that focus on myoclonus as a movement disorder from various electronic databases. The included articles contained discussion on clinical or electrophysiologic findings of myoclonus and its classification. This review outlines a practical diagnostic guide for clinicians that includes consideration of the newly developed 2025 International Association of Parkinsonism and Related Disorders (IAPRD) Axis classification system. This consensus-based framework organizes the diagnostic process into clinical features (Axis 1 A), clinical neurophysiology (Axis 1B), and etiology (Axis II). By systematically evaluating historical data, physical examination findings, and ancillary tests, clinicians can successfully arrive at a clinical syndrome which helps guide investigations to determine the underlying etiology. Neurophysiological assessments are important in determining the specific neuroanatomic generator (cortical, cortical-subcortical, subcortical, brainstem, spinal, propriospinal, peripheral). Categorizing myoclonus by its physiological subtype ultimately dictates the most effective symptomatic treatments. While resource-limited settings may necessitate a primarily clinical approach, employing this step-by-step localization aids in avoiding unnecessary testing and ensures optimal patient care.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149171871","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Uric acid-associated psychopathology in first-episode drug-naïve schizophrenia stratified by depressive symptoms.","authors":"Ying Cao, Xuguang Li, Zhengxiang Fu, Guoqian Zhang, Aiqin Zhong, Shen Li, Xiang Yang Zhang","doi":"10.1007/s00702-026-03307-9","DOIUrl":"https://doi.org/10.1007/s00702-026-03307-9","url":null,"abstract":"<p><p>Schizophrenia patients with depressive symptoms may represent a distinct clinical subtype with unique metabolic features. This study investigated divergent metabolic-psychopathological patterns in first-episode drug-naïve schizophrenia (FEDN-SCZ) patients stratified by depressive symptoms. We recruited 289 FEDN-SCZ patients and 128 healthy controls. Psychopathological symptoms were assessed using the Positive and Negative Syndrome Scale (PANSS), and depressive symptoms were evaluated with the 24-item Hamilton Depression Rating Scale (HAMD-24). Patients were stratified into subgroups based on HAMD-24 cut-off scores. Metabolic parameters, including uric acid (UA), fasting glucose, glycated hemoglobin (HbA1c), fasting insulin, total cholesterol, triglycerides, high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol, were systematically measured. FEDN-SCZ patients exhibited marginally higher UA levels than healthy controls (p = 0.050), with elevated levels observed in patients with depressive symptoms compared to those without (351.41 vs. 317.64 µmol/L, p = 0.047). The UA-PANSS association was moderated by depressive status (significant interactions for negative, general, and total PANSS scores, all p < 0.05), with simple slopes significant only in the depression group. Multiple regression analyses revealed subgroup-specific predictors: in the depressive subgroup, higher UA was associated with greater symptom severity, while HDL-C showed a protective effect; in non-depressive patients, glycemic indices (HbA1c and glucose) emerged as significant predictors (p < 0.05). The UA-psychopathology association was exclusive to FEDN-SCZ patients with depressive symptoms, while non-depression patients were characterized by glucose and energy dysregulation. These findings underscore the importance of stratified management strategies addressing both psychiatric and metabolic health.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149171533","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurofilaments support the differentiation of amyotrophic lateral sclerosis from degenerative cervical myelopathy.","authors":"Julia Goebell, Franziska Bachhuber, Jutta Karmann, Veronika Klose, Jan Kassubek, Hans-Peter Müller, Hayrettin Tumani, Albert Ludolph","doi":"10.1007/s00702-026-03277-y","DOIUrl":"https://doi.org/10.1007/s00702-026-03277-y","url":null,"abstract":"<p><p>The differential diagnosis between degenerative cervical myelopathy (DCM) and early amyotrophic lateral sclerosis (ALS) is often clinically challenging; laboratory tests that support this distinction could be highly valuable. This study examined the concentrations of neurofilament light chain (NfL) and the phosphorylated neurofilament heavy chain (pNfH), in CSF and serum of carefully selected patients with DCM, spinal canal stenosis (SCS) and ALS, after exclusion of major neurological confounders. Patients were assigned to five groups according to MRI findings and ALS diagnosis. All patients were treated in the Department of Neurology, and were only included if a CSF or serum sample was available for retrospective measurement of neurofilaments. Z-scores were used for age-adjusted interpretation of NfL concentrations in CSF and serum. In addition, the albumin quotient (QAlb), as a marker for the integrity of the blood-CSF barrier, was investigated in the five patient groups. The levels of NfL and pNfH, including Z-score distributions, differed significantly. The groups with diagnosed ALS had elevated neurofilaments both in CSF and Serum. Comparison of neurofilament concentrations between patients with isolated spinal canal stenosis and patients with cervical myelopathy revealed no significant difference. The QAlb showed no clear correlation with elevated neurofilaments and provided limited value for differential diagnosis. In summary, we showed that NfL and pNfH in CSF and serum support the differential diagnosis of cervical SCS with and without myelopathy from ALS in carefully selected cohorts. However, since neurofilaments are not specific, they should be used in context with clinical assessment and imaging for individual diagnostic and treatment decisions.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149148790","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Depression and anxiety in vascular dementia: an update.","authors":"Kurt A Jellinger","doi":"10.1007/s00702-026-03304-y","DOIUrl":"https://doi.org/10.1007/s00702-026-03304-y","url":null,"abstract":"<p><p>Depression with a prevalence between 20% and 86% and anxiety with a prevalence up to 72% most frequently coexist with vascular dementia (VaD) and reciprocally increase disease risks. Both psychopathological disorders are usually more frequent and more severe in patients with VaD than in those with Alzheimer disease (AD). Although there is a significant association between depression and all-cause dementia, VaD with depression has more comorbidities and higher mortality than without depression. A history of depression prior to dementia is more common than in AD, while its pre-disease state is a matter of discussion. Although the diagnosis of depression related to cerebrovascular disorders is based on the criteria of DSM-V, VaD/depression has been suggested to be a distinct subtype differing from late-life depression and major depressive disorder, whereas others reported broadly similar depressive symptom profiles across VaD, AD, and AD plus VaD. Depression in the course of VaD, which is frequently underdiagnosed and undertreated, has been related to a variety of pathogenic mechanisms, in particular cerebral small vessel disease (CSVD), cerebral white matter lesions, damage to fronto-subcortical brain circuits, neuroinflammation, impaired neurotrophic support, and imbalance of neurotransmitter/kynurenine pathways. Multimarkers, like high CSVD and white matter hyperintensity burden, the presence of visible perivascular spaces, inflammatory markers, neurofilament light chain levels, and other biomarkers may support clinical diagnosis of VaD/depression. Treatment planning should consider a modest response to antidepressants, while treatment of vascular and metabolic comorbidities may provide promising targets for its prevention and treatment. Electroconvulsive therapy and transcranial direct current stimulation as augmentation treatment of an adequate pharmacotherapy are potential strategies in the management of VaD/depression that is known to be often unresponsive to antidepressants only. However, their effectiveness needs further investigation to assess which interventions are appropriate and effective in clinical practice.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149130245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"On markers of linguistic impairment in autism and their implementation.","authors":"Alexandra Perovic, Sandrine Ferré, Marta Manenti, Rama Novogrodsky, Francesca Panzeri, Philippe Prévost, Laurice Tuller, Jeannette Schaeffer","doi":"10.1007/s00702-026-03227-8","DOIUrl":"https://doi.org/10.1007/s00702-026-03227-8","url":null,"abstract":"<p><p>Language abilities in autism show considerable variability across linguistic domains: vocabulary, grammar/structural language, and pragmatics (language in context) may be affected to differing degrees and not always simultaneously, as is the case in other neurodevelopmental conditions (NDCs), e.g. Down syndrome, Williams syndrome, or Developmental Language Disorder. This selective review synthesises empirical markers of language impairment across linguistic domains in autism, sometimes in comparison to other NDCs, while also evaluating theoretically driven assessment tools, both established and currently under development, that implement these markers. Core linguistic markers across the autism spectrum include 'social pragmatic' difficulties, i.e. challenges with irony comprehension, referential expression use, and narrative coherence. Impairment in grammar/structural language, such as morphosyntax (e.g., tense marking, passives, relative clauses) and phonology (e.g., consonant clusters, as in str), is observed in a substantial subset of autistic individuals and many other NDCs. Aspects of 'linguistic pragmatics,' such as understanding metaphor and indirect requests, tend to be impaired mainly in autistic individuals who also have structural language difficulties. Other challenges have been reported, including in prosody, semantics and lexical-pragmatics (e.g., mental state terms such as think, fear, happy), but remain underexplored. We further evaluate several existing and emerging screening tools that target specific linguistic markers and accommodate a wide range of populations, including males and females, multilingual speakers, minimally speaking individuals, and those with varying intellectual abilities. Grounded in theoretical linguistics, these tools are designed to facilitate detailed profiling of language strengths and challenges in autism. Their cross-linguistic design and applicability make them well-suited for cross-syndrome comparisons and the development of tailored interventions.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149130222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Does genetic testing remain relevant in advanced Parkinson's disease?","authors":"Ana Westenberger, Nadine J Endaya, Norbert Brüggemann","doi":"10.1007/s00702-026-03295-w","DOIUrl":"https://doi.org/10.1007/s00702-026-03295-w","url":null,"abstract":"<p><p>Genetic testing is traditionally emphasized in early-onset or familial Parkinson's disease (PD), leaving its role in advanced disease uncertain. This mini-review explores, from the perspectives of patients, their family members, and clinical researchers, whether genetic investigation remains meaningful once patients reach advanced PD. In large prospective clinical-genetic screening cohorts, roughly one in seven PD patients has genetic PD. Established genotype-phenotype correlations, spanning cognitive trajectory, levodopa responsiveness, and deep brain stimulation outcomes, continue to inform clinical decision-making even at advanced stages. Thus, patients may gain psychological clarity, receive refined prognostic counseling, and become eligible for gene-specific trials or registries. In addition, patients express altruistic motivations, considering the merit of sharing their genetic testing results with their families and the research community. Unaffected relatives may benefit from more precise, penetrance-informed risk assessment, appropriately scaled surveillance, lifestyle counseling, and reproductive planning, particularly as potential environmental modifiers of penetrance and age at onset become better characterized. Researchers rely on genetically characterized advanced-stage cohorts to identify genotype-phenotype relations, modifiers of onset, progression and treatment response, validate biomarkers, and build the large, deep longitudinal datasets required for emerging gene- and pathway-targeted therapies. Collectively, these perspectives argue against a narrow early-disease \"window of opportunity\" for genetic testing in PD. Rather than becoming obsolete once the disease reaches a more advanced stage, genetic characterization continues to shape individualized care, family counseling, and translational research. Thus, in the future, the challenge should no longer be to justify genetic testing in advanced PD, but to embed it equitably and systematically within standard care and international research infrastructure across the entire disease course.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149122705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Social media utilization to understand the journey and unmet needs of patients with Parkinson's disease in the Philippines.","authors":"Charity Joy E Limpiado, Gerard Saranza","doi":"10.1007/s00702-026-03268-z","DOIUrl":"https://doi.org/10.1007/s00702-026-03268-z","url":null,"abstract":"<p><p>Parkinson's disease (PD) is a progressive neurodegenerative disorder with increasing global prevalence, yet comprehensive qualitative research on patient experiences in the Philippines remains scarce. Understanding the lived experiences and unmet needs of Filipino PD patients is essential for developing culturally appropriate interventions. This phenomenological study aimed to characterize the patient journey and identify the unmet clinical, informational, and psychosocial needs of individuals living with Parkinson's disease in the Philippines through analysis of social media narratives. A qualitative descriptive phenomenological design was employed, utilizing social media listening techniques to systematically retrieve and analyze publicly accessible posts from Facebook, YouTube, Reddit, and Twitter/X. Purposive sampling yielded 200 posts authored by self-identified Filipino PD patients and caregivers from January 2023 to April 2026. Data were analyzed using phenomenological thematic analysis. The analysis revealed that the Filipino PD experience is characterized by \"navigating the Parkinson's maze\"-a journey through interconnected physical, financial, geographic, and systemic challenges. The most pervasive theme was economic hardship, with patients describing medication costs reaching ₱15,000 monthly, chronic stock-outs, and difficult choices between medications and basic necessities. Significant diagnostic delays, limited access to neurologists outside Metro Manila, inadequate multidisciplinary care, and severe caregiver burden were also identified. Social media emerged as a vital platform for information exchange, emotional support, and advocacy. The social media narratives reflected unique challenges shaped by healthcare system limitations, economic constraints, and geographic disparities. Findings underscore the urgent need for expanded medication access, government support programs, integration of multidisciplinary care, and recognition of social media as a valuable patient support resource.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149122752","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The association between upper limb motor performances and gait dynamics in essential tremor: an emerging relationship.","authors":"Roberta Terranova, Claudio Terravecchia, Donatella Contrafatto, Giulia Donzuso, Calogero Edoardo Cicero, Alessandra Nicoletti","doi":"10.1007/s00702-026-03302-0","DOIUrl":"https://doi.org/10.1007/s00702-026-03302-0","url":null,"abstract":"<p><p>Essential tremor (ET) is a complex disorder extending beyond upper limb action tremor. Both slowing in upper limb movements and impaired gait performances have been widely described. The present study aimed to assess clinical-instrumental relationship between wearable-sensor recorded upper limb motility, tremor and walking performances in ET and explore their role in disease characterization. A gyroscope taped over the index finger was used to quantify both tremor in three tasks (forward outstretched; lateral-wing; instrumental finger-nose, iFN) and upper limb performances in the iFN. Maximum speed (MS) and time (going phase; approaching phase) were used as indices of upper limb motility. Explorative correlation analyses were used to assess the relationship between walking and upper limb metrics. Regression analysis - using synthetic indices of walking (WPC1) and turning performances (TPC1) obtained with PCA - were applied to confirm the association adjusting for possible confounders. Thirty patients were considered for the analyses (23 men, 76.7%; mean age ± SD: 71.9 ± 5.1). No significant correlation between tremor and kinematic parameters was found. Consistent correlations were found between upper limb kinematics and gait performances. Both WPC1 and TPC1 were significantly associated with MS. The study identified an association between upper limb motor performances and gait dynamics in ET, suggesting a possible expression of a shared motor-control pathway, at least partly independent from the tremor network. Moreover, the potential role of a simple, rapid and clinically-scalable, wearable sensor-based protocol applicable both in tremor quantification and as a potential marker of broader motor function in ET was also highlighted.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149122710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}