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

{"title":"Correction to: Genetic updates on paroxysmal dyskinesias.","authors":"James Y Liao, Philippe A Salles, Umar A Shuaib, Hubert H Fernandez","doi":"10.1007/s00702-021-02361-9","DOIUrl":"https://doi.org/10.1007/s00702-021-02361-9","url":null,"abstract":"","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":"115"},"PeriodicalIF":3.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s00702-021-02361-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39086530","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":"Voxel-based lesion symptom mapping analysis for dysphagia in stroke patients with isolated cerebellar lesions.","authors":"Hyun Im Moon,&nbsp;Yoon Jeong Jeong,&nbsp;Ji Hyun Suh","doi":"10.1007/s00702-021-02438-5","DOIUrl":"https://doi.org/10.1007/s00702-021-02438-5","url":null,"abstract":"<p><p>Because the cerebellum plays a role in motor coordination, timing, sequencing, and feedback, it is hypothesized to be involved in swallowing-related functions. The role of the cerebellum in deglutition has become increasing evident, but the exact nature of this role remains inconclusive because of limited data from pure cerebellar lesions. Therefore, we conducted location analysis in isolated cerebellar lesions to complement previous findings and provide additional information. We reviewed 40 stroke patients with isolated cerebellar lesion. Lesion location and volume were measured on brain magnetic resonance images. We generated statistical maps of lesions related to VDS using voxel-based lesion symptom mapping (VLSM). We also created an overlay map of subgroups according to VDS score, those who have low risk and those who have high risk. Patients with cerebellar lesion had difficulty swallowing, both in the oral and pharyngeal phases. Multivariate analysis of cognitive function was selected as an independent predictor. In the group of high-risk patients, the overlay map showed some bilateral asymmetry, with a wider distribution in the left hemisphere and involvement of deep cerebellar nuclei. Using VLSM, we found that lesion location was associated with dysphagia. Although these results were not statistically significant, they showed a lesion pattern with predominant distribution in the left posterior lobe. Our results suggest that damage to the posterior lobe of the left cerebellum tends be related to severity of dysphagia in patients with isolated cerebellar lesion.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":"65-74"},"PeriodicalIF":3.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39887173","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":"Polymorphisms of COMT and CREB1 are associated with treatment-resistant depression in a Chinese Han population.","authors":"Yuting Wang,&nbsp;Shen Li,&nbsp;Lichao Niu,&nbsp;Yanyan Ma,&nbsp;Yuying Qiu,&nbsp;Shuhua Li,&nbsp;Nanage Guobule,&nbsp;Haiyan Cao,&nbsp;Jie Li","doi":"10.1007/s00702-021-02415-y","DOIUrl":"https://doi.org/10.1007/s00702-021-02415-y","url":null,"abstract":"<p><p>Genetic factors play a crucial role for the pathophysiology of treatment-resistant depression (TRD). It has been established that Catechol-O-methyltransferase (COMT) and cyclic amp-response element-binding protein (CREB) are associated with antidepressant response. The aim of this study was to explore the association between single nucleotide polymorphisms (SNPs) in COMT and CREB1 genes and TRD in a Chinese population. We recruited 181 patients with major depressive disorder (MDD) and 80 healthy controls, including 81 TRD patients. Depressive symptoms were assessed with the Hamilton Depression Rating Scale-17 (HDRS). Genotyping was performed using mass spectrometry. Genetic analyses were conducted by PLINK Software. The distribution of COMT SNP rs4818 allele and genotypes were significantly different between TRD and controls. Statistical differences in allele frequencies were observed between TRD and non-TRD groups, including rs11904814 and rs6740584 in CREB1 gene, rs4680 and rs4818 in COMT gene. There were differences in the distribution of HDRS total scores among different phenotypes of CREB1 rs11904814, CREB1 rs6740584, COMT rs4680 and rs4818. Gene-gene interaction effect of COMT-CREB1 (rs4680 × rs6740584) revealed significant epistasis in TRD. There findings indicate that COMT and CREB1 polymorphisms influence the risk of TRD and affect the severity of depressive symptoms of MDD.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":"85-93"},"PeriodicalIF":3.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39614792","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":"Small intestinal bacterial overgrowth in Alzheimer's disease.","authors":"Karol Kowalski,&nbsp;Agata Mulak","doi":"10.1007/s00702-021-02440-x","DOIUrl":"https://doi.org/10.1007/s00702-021-02440-x","url":null,"abstract":"<p><p>The results of animal studies and clinical data support the gut microbiota contribution to the pathogenesis of Alzheimer's disease (AD). The aim of this pilot study was to evaluate the prevalence of small intestinal bacterial overgrowth (SIBO) and fecal markers of intestinal inflammation and permeability in AD patients. The study was conducted in 45 AD patients and 27 controls. Data on comorbidities, pharmacotherapy, and gastrointestinal symptoms were acquired from medical records and a questionnaire. SIBO was evaluated using lactulose hydrogen breath test. Fecal calprotectin and zonulin levels were assessed by ELISA assays. The positive result of SIBO breath test was found in 49% of the AD patients and 22% of the controls (p = 0.025). The comparative analysis between SIBO-positive and SIBO-negative AD patients with respect to the degree of cognitive impairment, comorbidities and used medications did not reveal any statistically significant difference, except for less common heartburn in SIBO-positive AD patients than in SIBO-negative ones (9 vs 35%, p = 0.038). The median fecal calprotectin and zonulin levels in the AD group compared to the control group amounted to 43.1 vs 64.2 µg/g (p = 0.846) and 73.5 vs 49.0 ng/ml (p = 0.177), respectively. In the AD patients there was no association between the presence of SIBO and fecal calprotectin level. Patients with AD are characterized by higher prevalence of SIBO not associated with increased fecal calprotectin level that may be related to anti-inflammatory effect of cholinergic drugs used in the treatment of AD.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":"75-83"},"PeriodicalIF":3.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8738624/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39639255","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}

{"title":"Correction to: Association between heart rate variability and striatal dopamine depletion in Parkinson's disease.","authors":"Tomomichi Kitagawa,&nbsp;Tadashi Umehara,&nbsp;Hisayoshi Oka,&nbsp;Tomotaka Shiraishi,&nbsp;Takeo Sato,&nbsp;Hiroki Takatsu,&nbsp;Atsuo Nakahara,&nbsp;Hiromasa Matsuno,&nbsp;Keiko Bono,&nbsp;Shusaku Omoto,&nbsp;Hidetomo Murakami,&nbsp;Renpei Sengoku,&nbsp;Yasuyuki Iguchi","doi":"10.1007/s00702-021-02428-7","DOIUrl":"https://doi.org/10.1007/s00702-021-02428-7","url":null,"abstract":"","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":"123"},"PeriodicalIF":3.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39530272","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":"Levodopa-induced dyskinesias in Parkinson's disease increase cerebrospinal fluid nitric oxide metabolites' levels.","authors":"Bruno L Santos-Lobato,&nbsp;Mariza Bortolanza,&nbsp;Lucas César Pinheiro,&nbsp;Marcelo E Batalhão,&nbsp;Ângela V Pimentel,&nbsp;Evelin Capellari-Carnio,&nbsp;Elaine A Del-Bel,&nbsp;Vitor Tumas","doi":"10.1007/s00702-021-02447-4","DOIUrl":"https://doi.org/10.1007/s00702-021-02447-4","url":null,"abstract":"<p><p>Levodopa-induced dyskinesia (LID) is a common complication of Parkinson's disease (PD) therapy. Nitric oxide in the central nervous system may have a role in its pathophysiology. The present work investigates plasma and CSF levels of nitric oxide metabolites nitrite and nitrate in patients with PD, LID, and healthy control. We measured plasma and CSF nitrite and nitrate levels in patients with PD with and without LID and in healthy controls. The levels of plasma and CSF nitrite and nitrate were measured by ozone-based chemiluminescence. Sixty-seven participants were enrolled. CSF nitrite levels in patients with PD and LID were higher than in patients with PD without LID and healthy controls. CSF/plasma ratio of nitrite was higher in patients with PD and LID than in patients with PD without LID. The CSF/plasma ratio of nitrite in patients with PD and LID was higher than 1, indicating an intrathecal production of NO in patients with this motor complication. There was an increase in nitrate levels of CSF and CSF/plasma ratio of nitrate in patients with PD and LID compared to the healthy controls. Sex, age at evaluation, disease duration, and levodopa equivalent daily doses, as well as processing and storage time, did not critically influence these results. The present study demonstrated an increase in nitrite and nitrate levels in the central nervous system of patients with PD and LID. This finding strengthens the role of NO on LID pathophysiology.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":"55-63"},"PeriodicalIF":3.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39863681","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":"Recent update on the heterogeneity of the Alzheimer's disease spectrum.","authors":"Kurt A Jellinger","doi":"10.1007/s00702-021-02449-2","DOIUrl":"https://doi.org/10.1007/s00702-021-02449-2","url":null,"abstract":"<p><p>Alzheimer's disease (AD), the most common form of dementia worldwide, is a mixed proteinopathy (β-amyloid, tau and other proteins). Classically defined as a clinicopathological entity, AD is a heterogeneous, multifactorial disorder with various pathobiological subtypes showing different forms of cognitive presentation, currently referred to as the Alzheimer spectrum or continuum. Its morphological hallmarks are extracellular β-amyloid (amyloid plaques) and intraneuronal tau aggregates forming neurofibrillary tangles and neurites, vascular amyloid deposits (cerebral amyloid angiopathy), synapse and neuronal loss as well as neuroinflammation and reactive astrogliosis, leading to cerebral atrophy and progressive mental/cognitive impairment (dementia). In addition to \"classical\" AD, several subtypes with characteristic regional patterns of tau pathology have been segregated that are characterized by distinct clinical features, differences in age, sex distribution, disease duration, cognitive status, APOE genotype, and biomarker levels. In addition to four major subtypes based on the distribution of tau pathology and brain atrophy (typical, limbic predominant, hippocampal sparing, and minimal atrophy), several other clinical variants (non-amnestic, corticobasal, behavioral/dysexecutive, posterior cortical variants, etc.) have been identified. These heterogeneous AD variants are characterized by different patterns of key neuronal network destructions, in particular the default-mode network that is responsible for cognitive decline. Other frequent age-related co-pathologies, e.g., cerebrovascular lesions, Lewy and TDP-43 pathologies, hippocampal sclerosis, or argyrophilic grain disease, essentially influence the clinical picture and course of AD, and can challenge our understanding of this disorder including the threshold and causal relevance of each individual pathology. Unravelling the clinico-morphological heterogeneity among the AD spectrum entities is important for better elucidation of the pathogenic mechanisms affecting the aging brain that may enable a broader diagnostic coverage of AD as a basis for implementing precision medicine approaches and for developing preventive and ultimately disease-modifying therapies for this devastating disorder.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":"1-24"},"PeriodicalIF":3.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39823160","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":"Do complexing proteins provide mechanical protection for botulinum neurotoxins?","authors":"Dirk Dressler,&nbsp;Lizhen Pan,&nbsp;Fereshte Adib Saberi,&nbsp;Hans Bigalke","doi":"10.1007/s00702-019-02023-x","DOIUrl":"https://doi.org/10.1007/s00702-019-02023-x","url":null,"abstract":"<p><p>Botulinum toxin (BT) consists of botulinum neurotoxin and complexing proteins (CPs). CPs might provide mechanical protection for botulinum neurotoxin. As incobotulinumtoxinA (INCO, Xeomin®) does not contain CPs, we wanted to compare its mechanical stability to that of onabotulinumtoxinA (ONA, Botox®) containing CPs. For this, ONA and INCO were reconstituted without mechanical stress (NS) and with mechanical stress (WS) generated by a recently introduced stress test. Potencies were then measured by the paralysis times (PTs) in the mouse diaphragm assay. ONA-PT was 75.8 ± 10.3 min (n = 6) under NS and 116.7 ± 29.8 min (n = 6) under WS (two-tailed t test, p = 0.002). Mechanical stress increased the ONA-PT by 35.0% on the Growth Percentage Index. INCO-PT was 66.0 ± 7.0 min for NS and 76.0 ± 1.0 min for WS (t test, p = 0.129). Mechanical stress increased the INCO-PT by 13.2% on the Growth Percentage Index. Our data show that mechanical stress inactivates a CP-containing BT drug, but not a CP-free BT drug. We conclude that CPs do not provide protection against mechanical stress, supporting the view that CPs are not necessary for therapeutic purposes.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":"1047-1050"},"PeriodicalIF":3.3,"publicationDate":"2019-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s00702-019-02023-x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40449867","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":"Assessment of plasma creatine kinase as biomarker for levodopa-induced dyskinesia in Parkinson's disease.","authors":"Anna Delamarre,&nbsp;François Tison,&nbsp;Qin Li,&nbsp;Monique Galitzky,&nbsp;Olivier Rascol,&nbsp;Erwan Bezard,&nbsp;Wassilios G Meissner","doi":"10.1007/s00702-019-02015-x","DOIUrl":"https://doi.org/10.1007/s00702-019-02015-x","url":null,"abstract":"<p><p>We tested in a translational approach the usefulness of plasma creatine kinase (CK) as an objective biomarker for levodopa-induced dyskinesia (LID). Plasma CK levels were measured in five dyskinetic parkinsonian non-human primates (NHP) and in ten PD patients with LID who participated in a treatment trial with simvastatin. Plasma CK levels were increased in dyskinetic NHP and correlated with LID severity while they were not affected by LID severity in PD patients.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":"789-793"},"PeriodicalIF":3.3,"publicationDate":"2019-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s00702-019-02015-x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37251142","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":"Genetic endophenotypes for insomnia of major depressive disorder and treatment-induced insomnia.","authors":"Ibrahim Mohammed Badamasi,&nbsp;Munn Sann Lye,&nbsp;Normala Ibrahim,&nbsp;Johnson Stanslas","doi":"10.1007/s00702-019-02014-y","DOIUrl":"https://doi.org/10.1007/s00702-019-02014-y","url":null,"abstract":"<p><p>Major depressive disorder (MDD) is primarily hinged on the presence of either low mood and/or anhedonia to previously pleasurable events for a minimum of 2 weeks. Other clinical features that characterize MDD include disturbances in sleep, appetite, concentration and thoughts. The combination of any/both of the primary MDD symptoms as well as any four of the other clinical features has been referred to as MDD. The challenge for replicating gene association findings with phenotypes of MDD as well as its treatment outcome is putatively due to stratification of MDD patients. Likelihood for replication of gene association findings is hypothesized with specificity in symptoms profile (homogenous clusters of symptom/individual symptoms) evaluated. The current review elucidates the genetic factors that have been associated with insomnia symptom of MDD phenotype, insomnia symptom as a constellation of neuro-vegetative cluster of MDD symptom, insomnia symptom of MDD as an individual entity and insomnia feature of treatment outcome. Homozygous CC genotype of 3111T/C, GSK3B-AT/TT genotype of rs33458 and haplotype of TPH1 218A/C were associated with insomnia symptom of MDD. Insomnia symptom of MDD was not resolved in patients with the A/A genotype of HTR2A-rs6311 when treated with SSRI. Homozygous short (SS) genotype-HTTLPR, GG genotype of HTR2A-rs6311 and CC genotype of HTR2A-rs6313 were associated with AD treatment-induced insomnia, while val/met genotype of BDNF-rs6265 and the TT genotype of GSK-3beta-rs5443 reduced it. Dearth of association studies may remain the bane for the identification of robust genetic endophenotypes in line with findings for genotypes of HTR2A-rs6311.</p>","PeriodicalId":520679,"journal":{"name":"Journal of neural transmission (Vienna, Austria : 1996)","volume":" ","pages":"711-722"},"PeriodicalIF":3.3,"publicationDate":"2019-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s00702-019-02014-y","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37259061","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}