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

筛选
英文 中文
CogStrat: web-based tools for predicting incident cognitive impairment in cognitively normal older adults. CogStrat:用于预测认知正常老年人偶发认知障碍的网络工具。
IF 4
Journal of neural transmission (Vienna, Austria : 1996) Pub Date : 2026-09-01 Epub Date: 2026-05-26 DOI: 10.1007/s00702-026-03163-7
Adolfo Jiménez-Huete, Jimmy Santiago Ulloa Bravo, Antonio Martín-Bastida, Teresa Rognoni, Genoveva Montoya-Murillo, María Cruz Rodríguez-Oroz, Mario Riverol
{"title":"CogStrat: web-based tools for predicting incident cognitive impairment in cognitively normal older adults.","authors":"Adolfo Jiménez-Huete, Jimmy Santiago Ulloa Bravo, Antonio Martín-Bastida, Teresa Rognoni, Genoveva Montoya-Murillo, María Cruz Rodríguez-Oroz, Mario Riverol","doi":"10.1007/s00702-026-03163-7","DOIUrl":"10.1007/s00702-026-03163-7","url":null,"abstract":"<p><p>Early identification of individuals at increased risk of cognitive impairment is crucial for timely intervention. We developed and evaluated Cox proportional hazards models and translated them into web-based applications to predict incident cognitive impairment in cognitively normal older adults using clinical data, with optional biomarker inputs. Data were drawn from cognitively unimpaired participants in the Alzheimer's Disease Neuroimaging Initiative (ADNI). Models included demographic and neuropsychological variables, with optional genetic, neuroimaging, and fluid (plasma and CSF) biomarkers. Performance was assessed using the C-index, calibration slope, and decision curve analysis, with internal validation via bootstrap resampling. Key models were externally validated in the Harvard Aging Brain Study. The ADNI sample comprised 729 participants (median age 73 years; 45% male). A clinical model including age, education, Montreal Cognitive Assessment, and delayed word recall showed acceptable discrimination (C-index 0.721; CI 0.672-0.772) and strong calibration (slope 0.940). Adding biomarkers improved performance, with the highest discrimination observed for a model including FDG and florbetapir PET uptake (C-index 0.805; CI 0.759-0.886). Discrimination remained stable after internal and external validation, while calibration was weaker for most plasma biomarkers. Five web applications (CogStrat) were developed using clinical data alone or combined with hippocampal volume, CSF tau/Aβ42, plasma neurofilament light chain, or FDG and florbetapir PET. These tools provide individualized risk group classifications, 5-year risk estimates, and 10-year cumulative incidence curves. CogStrat translates prognostic models into freely accessible, interactive tools that support risk stratification of cognitive impairment in cognitively normal older adults.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":"2371-2385"},"PeriodicalIF":4.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13687235/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148038842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Televisits for Parkinson's disease: benefits and barriers. 帕金森氏症的电视治疗:益处和障碍。
IF 4
Journal of neural transmission (Vienna, Austria : 1996) Pub Date : 2026-09-01 Epub Date: 2026-07-25 DOI: 10.1007/s00702-026-03238-5
V Canoro, C Giordano, M Rotolo, P Barone, R Erro
{"title":"Televisits for Parkinson's disease: benefits and barriers.","authors":"V Canoro, C Giordano, M Rotolo, P Barone, R Erro","doi":"10.1007/s00702-026-03238-5","DOIUrl":"10.1007/s00702-026-03238-5","url":null,"abstract":"<p><p>Televisits are a valuable tool for Parkinson's disease (PD) follow-up; however, their implementation is hindered by a fragmented evidence base. This narrative review synthesizes 41 articles (31 observational, 10 comparative) spanning three decades, categorizing findings into three domains: feasibility, clinical outcomes, and efficiency. Results indicate high feasibility with visit completion frequently exceeding 70% and high user satisfaction primarily due to reduced travel burden and costs. Clinical outcomes appear comparable to in-person care, yet evidence on efficiency remains inconclusive. Current literature suffers from methodological limitations, including small sample sizes, U.S. geographic bias, and a lack of standardized outcome taxonomies. Notably, we identify a recurring \"augmentation bias\" in comparative trial designs: experimental arms frequently receive more clinical attention than controls. This suggests that reported benefits may derive from increased care frequency rather than the specific care delivery modality, questioning the cost-effectiveness of such resource-heavy models in routine practice. Furthermore, barriers regarding the digital divide and concerns about international privacy regulations (e.g., GDPR/HIPAA) remain unresolved. In conclusion, televisits should be integrated into validated hybrid frameworks rather than serving as standalone replacements. To advance the field, research must pivot from basic feasibility toward establishing standardized outcome measures and proving long-term economic sustainability in real-world clinical settings.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":"2129-2151"},"PeriodicalIF":4.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13687212/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148595407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Polygenic risk meets early trauma: toward a neuropsychodevelopmental model of schizophrenia. 多基因风险与早期创伤:精神分裂症的神经心理发育模型。
IF 4
Journal of neural transmission (Vienna, Austria : 1996) Pub Date : 2026-09-01 Epub Date: 2026-08-21 DOI: 10.1007/s00702-026-03263-4
Antonio Del Casale, Paolo Girardi, Jan Francesco Arena, Claudio Cantelmi, Martina Nicole Modesti, Liliana Bronzatti, Ludovica Zanini, Giorgio Veneziani, Emanuele Giraldi, Sofia Mazzani, Maurizio Simmaco, Carlo Lai, Grazia Spitoni, Giacomo Ciocca
{"title":"Polygenic risk meets early trauma: toward a neuropsychodevelopmental model of schizophrenia.","authors":"Antonio Del Casale, Paolo Girardi, Jan Francesco Arena, Claudio Cantelmi, Martina Nicole Modesti, Liliana Bronzatti, Ludovica Zanini, Giorgio Veneziani, Emanuele Giraldi, Sofia Mazzani, Maurizio Simmaco, Carlo Lai, Grazia Spitoni, Giacomo Ciocca","doi":"10.1007/s00702-026-03263-4","DOIUrl":"10.1007/s00702-026-03263-4","url":null,"abstract":"<p><p>Advances in psychiatric genetics have substantially reshaped current models of schizophrenia-spectrum disorders, shifting the focus from single risk factors to polygenic liability and its interaction with environmental adversity. Polygenic risk scores (PRS) provide a quantitative index of genetic vulnerability; however, how this liability interfaces with early-life stress-particularly childhood trauma-across neurodevelopment remains insufficiently conceptualized. Accumulating evidence indicates that the interplay between polygenic risk and childhood trauma influences not only the likelihood of psychosis onset but also the emergence of specific symptom dimensions during clinical high-risk states and early stages of illness. Yet, existing theoretical frameworks tend to consider genetic predisposition and environmental exposure as parallel or additive processes, offering limited insight into their developmental convergence. In this Perspective, we examine current neurodevelopmental models of schizophrenia and integrate them within a unified framework, proposing that polygenic liability, environmental exposures (including early trauma), and psychological processes interact dynamically and bidirectionally across sensitive developmental windows, shaping distinct neuropsychodevelopmental trajectories. Integrating polygenic, environmental, and developmental domains within a unified neuropsychodevelopmental framework may help explain clinical heterogeneity, with important implications for early identification, risk stratification, and personalized preventive strategies.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":"2757-2768"},"PeriodicalIF":4.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13687196/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148805137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comparison of neuromelanin-sensitive magnetic resonance imaging using different magnetic resonance protocols on the same patients with Parkinson's disease. 不同磁共振方案对帕金森病患者神经黑色素敏感磁共振成像的比较
IF 4
Journal of neural transmission (Vienna, Austria : 1996) Pub Date : 2026-09-01 Epub Date: 2026-05-26 DOI: 10.1007/s00702-026-03179-z
Rinka Hirose, Keita Matsuura, Yuichiro Ii, Hiroyuki Kajikawa, Masayuki Maeda, Maki Umino, Ken-Ichi Tabei, Akisato Nishigaki, Shotaro Horie, Hidehiro Ishikawa, Ken Kagawa, Akihiro Shindo
{"title":"Comparison of neuromelanin-sensitive magnetic resonance imaging using different magnetic resonance protocols on the same patients with Parkinson's disease.","authors":"Rinka Hirose, Keita Matsuura, Yuichiro Ii, Hiroyuki Kajikawa, Masayuki Maeda, Maki Umino, Ken-Ichi Tabei, Akisato Nishigaki, Shotaro Horie, Hidehiro Ishikawa, Ken Kagawa, Akihiro Shindo","doi":"10.1007/s00702-026-03179-z","DOIUrl":"10.1007/s00702-026-03179-z","url":null,"abstract":"<p><p>In Parkinson's disease (PD), neuronal loss occurs in the substantia nigra (SN) and locus coeruleus (LC). Previous studies using neuromelanin-sensitive magnetic resonance imaging (NMI) at 3T MRI have described the measurement methods and diagnostic significance of the contrast ratio (SN-CR) and area (SN-A), as well as their association with clinical symptoms. However, no reports have evaluated the consistency of NMIs acquired using different MR protocols in the same patients over a short period. Therefore, this study evaluated the similarity of two-dimensional (2D) NMIs obtained simultaneously under different imaging parameters. The SN-CR, LC-CR, and SN-A were compared in 54 of 55 patients with PD who underwent 2D NMIs within 3 months under different imaging conditions, with one patient excluded due to artifacts. The relationships of these variables with motor and cognitive function were then examined. The mean age of the cohort was 62.3 ± 8.0 years. The mean disease duration was 11.4 ± 5.2 years, and the male-to-female ratio was 25:29. No significant correlation was found for SN-CR (r = 0.233, p = 0.091) and LC-CR (ρ = 0.180, p = 0.192). However, a significant, albeit weak, positive correlation was observed for SN-A (ρ = 0.403, p = 0.003). Standardization of imaging protocols is essential to minimize technical variability.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":"2503-2511"},"PeriodicalIF":4.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13687396/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148038829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Dopamine supersensitivity psychosis: a critical evaluation of diagnostic validators. 多巴胺超敏感性精神病:诊断验证者的关键评估。
IF 4
Journal of neural transmission (Vienna, Austria : 1996) Pub Date : 2026-09-01 Epub Date: 2026-07-03 DOI: 10.1007/s00702-026-03207-y
Liam Korošec Hudnik, Ivo Kosmačin, Milica Pjevac, Vita Dolžan, Jurij Bon
{"title":"Dopamine supersensitivity psychosis: a critical evaluation of diagnostic validators.","authors":"Liam Korošec Hudnik, Ivo Kosmačin, Milica Pjevac, Vita Dolžan, Jurij Bon","doi":"10.1007/s00702-026-03207-y","DOIUrl":"10.1007/s00702-026-03207-y","url":null,"abstract":"<p><p>Dopamine antagonists are the cornerstone of treatment for psychotic disorders, but long-term exposure may induce dopamine supersensitivity psychosis (DSP)-a syndrome characterized by psychotic relapse upon dose reduction or discontinuation, tolerance to antipsychotic effects, and co-occurrence of tardive dyskinesia. Despite decades of clinical observation and supporting preclinical evidence, the diagnostic validity of DSP and its relationship to treatment resistance remain incompletely understood. This systematized review evaluates clinical evidence supporting DSP as a distinct diagnostic entity using the standard framework of psychiatric diagnostic validators: delineation from other disorders, predictable clinical course, predictable treatment response, reliable biomarkers, and genetic susceptibility. A systematic search of MEDLINE and Embase identified 39 eligible clinical studies comprising case series, cross-sectional studies, cohort studies, and randomized controlled trials. Methodological quality was assessed using the Murad tool for case series and Joanna Briggs Institute critical appraisal checklists for remaining designs. Data were synthesized qualitatively due to heterogeneity in study designs, diagnostic criteria, and outcome measures. Evidence suggests predictable symptom worsening following dose reduction or switching to partial agonists, and points toward possible genetic susceptibility variants. Biomarker findings remain inconclusive, and differentiation of DSP from natural illness relapse is inherently difficult. Retrospective designs, small samples, absence of control groups, and inadequate confounder control preclude definitive conclusions. Standardized diagnostic criteria and prospective, well-controlled studies integrating clinical, genetic, and biomarker assessments are urgently needed to clarify the existence, mechanisms, and optimal management of DSP.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":"2069-2082"},"PeriodicalIF":4.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13687292/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148379525","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Psychosocial and body image alterations associated with focal dystonia. 局灶性肌张力障碍相关的社会心理和身体形象改变。
IF 4
Journal of neural transmission (Vienna, Austria : 1996) Pub Date : 2026-09-01 Epub Date: 2026-06-29 DOI: 10.1007/s00702-026-03215-y
Denise Mellace, Angelica Marfoli, Francesca Mameli, Angelica De Sandi, Carmelo Campo, Fabiana Ruggiero, Eleonora Zirone, Gabriella Santangelo, Valentina Tombola, Roberto Vimercati, Carlo Manzoni, Filippo Cogiamanian, Gaia Del Prete Ferrucci, Giordano D'Urso, Daniela Pia Rosaria Chieffo, Gabriella Pravettoni, Alberto Priori, Roberta Ferrucci
{"title":"Psychosocial and body image alterations associated with focal dystonia.","authors":"Denise Mellace, Angelica Marfoli, Francesca Mameli, Angelica De Sandi, Carmelo Campo, Fabiana Ruggiero, Eleonora Zirone, Gabriella Santangelo, Valentina Tombola, Roberto Vimercati, Carlo Manzoni, Filippo Cogiamanian, Gaia Del Prete Ferrucci, Giordano D'Urso, Daniela Pia Rosaria Chieffo, Gabriella Pravettoni, Alberto Priori, Roberta Ferrucci","doi":"10.1007/s00702-026-03215-y","DOIUrl":"10.1007/s00702-026-03215-y","url":null,"abstract":"<p><p>Focal dystonia is a movement disorder characterized by involuntary muscle contractions resulting in abnormal postures and repetitive movements. Beyond motor impairment and physical disfigurement, dystonia is increasingly recognized as a network disorder with intrinsic non-motor symptoms, including body image concerns and psychological distress, which significantly affects quality of life (QoL). This study examined the psychosocial correlates of different forms of focal dystonia, focusing on altered body image, severity of anxiety and depression, and QoL in 19 patients with focal dystonia, 18 patients with hyperhidrosis (HH), and 13 patients with hemifacial spasm (HFS) as clinical control groups. Participants completed standardized tests including the Beck Depression Inventory-II for depression, the State-Trait Anxiety Inventory-Y2 for anxiety, the Body Uneasiness Test (BUT) for body image perception, and the 36-item Short Form Health Survey (SF-36) for QoL. Post-hoc comparisons revealed significant differences in both BUT and SF-36 scores between groups. Cervical dystonia (CD) patients had higher depersonalization symptoms than HH patients (BUT-D: 0.5 ± 0.7 vs. 0.1 ± 0.1; p = .027). CD patients also reported lower SF-36 Physical Role scores (55.6 ± 44.7) compared to blepharospasm (BPS) (87.5 ± 31.7), HH (95.8 ± 17.7), and HFS (65.4 ± 43.9) (p < .001). In contrast, BPS patients scored higher on SF-36 Emotional Role (90.0 ± 31.6) and SF-36 Social Functioning (89.9 ± 14.3) than CD (SF-36-ER: 70.2 ± 39.0, p < .001; SF-36-SF: 80.4 ± 25.1, p < .001). Depression and anxiety scores were below clinical thresholds and did not differ significantly between groups. These results support the view that non-motor symptoms are core features of focal dystonia, particularly in CD, and emphasize the need to address psychological and body image-related aspects in clinical management and future models of the disorder.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":"2925-2934"},"PeriodicalIF":4.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13687348/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148348597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cross-sectional and longitudinal validation of short and long versions of the progressive supranuclear palsy quality of life scale. 渐进式核上性麻痹生活质量量表短版和长版的横断面和纵向验证。
IF 4
Journal of neural transmission (Vienna, Austria : 1996) Pub Date : 2026-09-01 Epub Date: 2025-10-06 DOI: 10.1007/s00702-025-03031-w
Qi Shen, Yi-Xin Zhao, Gan Tang, Qin Zhang, KunWang Chan, Lu Feng, Xiao-Niu Liang, Jian-Jun Wu, Jian Wang, Xin-Yi Li, Feng-Tao Liu
{"title":"Cross-sectional and longitudinal validation of short and long versions of the progressive supranuclear palsy quality of life scale.","authors":"Qi Shen, Yi-Xin Zhao, Gan Tang, Qin Zhang, KunWang Chan, Lu Feng, Xiao-Niu Liang, Jian-Jun Wu, Jian Wang, Xin-Yi Li, Feng-Tao Liu","doi":"10.1007/s00702-025-03031-w","DOIUrl":"10.1007/s00702-025-03031-w","url":null,"abstract":"<p><p>Progressive supranuclear palsy (PSP) is an atypical parkinsonian disorder characterized by supranuclear gaze palsy, postural instability, parkinsonism, and frontal lobe disturbances. Severely impaired health-related quality of life (HRQoL) has been reported in patients with PSP. However, longitudinal studies of HRQoL are limited. This retrospective study recruited 90 patients from the Progressive Supranuclear Palsy Neuroimage Initiative (PSPNI) from 2018 to 2024. Motor and non-motor symptoms were evaluated at baseline and follow-up. HRQoL was assessed by short and long versions of the Progressive Supranuclear Palsy Quality of Life Scale (PSP-QoL). The baseline determinants of HRQoL and predictors of its subsequent decline were explored by linear regression. At baseline, motor and non-motor symptoms showed significant correlations with HRQoL. Linear regression analyses identified PSP Rating Scale (PSPRS), Geriatric Depression Scale, and disease duration as the most critical determinants of baseline HRQoL. All patients showed HRQoL deterioration after a median of 13.0 months of follow-up, and patients with PSP-Richardson's syndrome (PSP-Richardson) tended to worsen faster in the mental domain compared with other subtypes. Longitudinal changes in HRQoL were associated with changes in PSPRS, Mini-Mental State Examination, and Frontal Behavioral Inventory, while baseline Non-motor Symptoms Scale predicted the subsequent HRQoL decline rate. Disease severity, depression, and disease duration determined baseline HRQoL in PSP patients, while non-motor symptoms predicted HRQoL worsening rate. Patients with PSP-Richardson suffered more severe HRQoL impairment than other subtypes. The short and long versions of PSP-QoL demonstrated comparable statistical performance at baseline and during follow-up.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":"2867-2875"},"PeriodicalIF":4.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145234690","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}
引用次数: 0
Psychiatric disorders in amyotrophic lateral sclerosis: a short note. 肌萎缩性侧索硬化症的精神障碍:简短说明。
IF 4
Journal of neural transmission (Vienna, Austria : 1996) Pub Date : 2026-09-01 Epub Date: 2026-07-23 DOI: 10.1007/s00702-026-03231-y
Kurt A Jellinger
{"title":"Psychiatric disorders in amyotrophic lateral sclerosis: a short note.","authors":"Kurt A Jellinger","doi":"10.1007/s00702-026-03231-y","DOIUrl":"10.1007/s00702-026-03231-y","url":null,"abstract":"<p><p>Traditionally, amyotrophic lateral sclerosis (ALS) has been defined as a rapidly progressive neurodegenerative disorder that affects the large motor neurons of the brain and spinal cord. The assumption that ALS is a pure motor disorder has been increasingly challenged by accumulating evidence about an association between ALS and psychiatric disorders. They often precede the onset of motor symptoms or psychoses; hallucinations and schizophrenia may occur as concomitant changes. These non-motor disorders have a close relationship with disease onset or may be related to a larger framework of neuronal network disruptions in motor neuron disorders. The link between ALS and schizophrenia was supported by substantial genetic correlations associating the C9orf72 gene expansion with psychiatric disorders. The genetic correlation between ALS and schizophrenia was estimated to be 14.3% with frequent polygenic risk scores. Increased psychotic symptoms in C9orf72 carriers correlate with atrophy in a distributed cortical and subcortical network that includes multiple cerebral regions. ALS kindreds often present higher rates of psychiatric illnesses, and early schizophrenia is significantly associated with the development of ALS. Further studies should attempt to delineate the risk of psychiatric disorders in C9orf72 kindreds to aid in clinical decision making and genetic counseling, through collaborations between neurology and psychiatry.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":"2121-2127"},"PeriodicalIF":4.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148564197","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}
引用次数: 0
Abnormal swallowing-breathing coordination is an electrokinesiographic feature of dysphagia in multiple system atrophy: a comparative study with Parkinson's disease. 吞咽-呼吸协调异常是多系统萎缩患者吞咽困难的电动力学特征:与帕金森病的比较研究
IF 4
Journal of neural transmission (Vienna, Austria : 1996) Pub Date : 2026-09-01 Epub Date: 2026-04-30 DOI: 10.1007/s00702-026-03168-2
Massimiliano Todisco, Enrico Alfonsi, Sebastiano Arceri, Paolo Prunetti, Mauro Fresia, Roberta Zangaglia, Cristina Tassorelli, Antonio Pisani, Giuseppe Cosentino
{"title":"Abnormal swallowing-breathing coordination is an electrokinesiographic feature of dysphagia in multiple system atrophy: a comparative study with Parkinson's disease.","authors":"Massimiliano Todisco, Enrico Alfonsi, Sebastiano Arceri, Paolo Prunetti, Mauro Fresia, Roberta Zangaglia, Cristina Tassorelli, Antonio Pisani, Giuseppe Cosentino","doi":"10.1007/s00702-026-03168-2","DOIUrl":"10.1007/s00702-026-03168-2","url":null,"abstract":"<p><p>Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by autonomic failure and motor impairment, with dysphagia emerging early and representing a key feature for differential diagnosis from Parkinson's disease (PD). Safe and efficient swallowing relies on precise coordination between oropharyngeal events and breathing, yet this interaction has not been systematically investigated in MSA. To quantify the temporal relationships between oropharyngeal phases and breathing during water and jelly swallows, we retrospectively analyzed the electrokinesiographic study of swallowing (EKSS) from 38 patients with the parkinsonian variant of MSA (MSA-P), 16 patients with the cerebellar variant of MSA (MSA-C), 21 patients with PD, and 15 healthy controls. MSA patients exhibited widespread oropharyngeal dysfunction across both bolus consistencies, with MSA-C showing the most severe abnormalities. Both MSA phenotypes indeed displayed multiple EKSS alterations consistent with disrupted swallowing-breathing coordination, including paradoxical sequencing and prolonged inter-events intervals. The MSA-C group showed additional impairment in the control of the upper esophageal sphincter. In contrast, PD patients had milder EKSS abnormalities, predominantly involving oral phase parameters. The post-swallowing inspiration index reliably discriminated MSA from PD across all bolus types, being significantly higher in MSA patients and indicating more pronounced swallowing-breathing desynchronization. These findings provide a detailed neurophysiological characterization of oropharyngeal swallowing in MSA and PD, highlighting disease- and phenotype-specific patterns: predominant impairment of the pharyngeal phase and its coordination with breathing in MSA, particularly in MSA-C, and mainly oral phase involvement in PD.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":"2417-2428"},"PeriodicalIF":4.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13687241/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147795181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Altered platelet function in persistent depressive disorder: a study of density subpopulations and fibrinogen binding. 持续性抑郁症患者血小板功能改变:密度亚群和纤维蛋白原结合的研究。
IF 4
Journal of neural transmission (Vienna, Austria : 1996) Pub Date : 2026-09-01 Epub Date: 2026-03-27 DOI: 10.1007/s00702-026-03138-8
Micha Milovanovic
{"title":"Altered platelet function in persistent depressive disorder: a study of density subpopulations and fibrinogen binding.","authors":"Micha Milovanovic","doi":"10.1007/s00702-026-03138-8","DOIUrl":"10.1007/s00702-026-03138-8","url":null,"abstract":"","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":"2349-2357"},"PeriodicalIF":4.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13687214/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147535122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信
小红书