Brain communications最新文献

筛选
英文 中文
Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish.
IF 4.1
Brain communications Pub Date : 2025-02-05 eCollection Date: 2025-01-01 DOI: 10.1093/braincomms/fcaf055
Mohamed S Abdel-Hamid, Adeline Paimboeuf, Maha S Zaki, Fernanda Figueiredo, Sherif F Abdel-Ghafar, Sabrina Maher, Rún Friðriksdóttir, Patrick Sulem, Hákon Björn Högnason, Sigrún Hallgrímsdóttir, Catarina Falleiros N Rojas, Fernando Kok, Mohnish Suri, César Augusto P F Alves, Henry Houlden, Reza Maroofian, Shunmoogum A Patten
{"title":"Biallelic variants in <i>GTF3C3</i> encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish.","authors":"Mohamed S Abdel-Hamid, Adeline Paimboeuf, Maha S Zaki, Fernanda Figueiredo, Sherif F Abdel-Ghafar, Sabrina Maher, Rún Friðriksdóttir, Patrick Sulem, Hákon Björn Högnason, Sigrún Hallgrímsdóttir, Catarina Falleiros N Rojas, Fernando Kok, Mohnish Suri, César Augusto P F Alves, Henry Houlden, Reza Maroofian, Shunmoogum A Patten","doi":"10.1093/braincomms/fcaf055","DOIUrl":"10.1093/braincomms/fcaf055","url":null,"abstract":"<p><p>RNA polymerase III transcribes essential non-coding RNAs, a process regulated by transcription factors TFIIIB and TFIIIC. Although germline variants in TFIIIC subunit genes have been described in a few patients with neurodevelopmental disorders, the associated pathogenesis and clinical spectrum are not yet well defined. Herein, we describe the identification of biallelic variants in <i>GTF3C3,</i> which encodes a key component of the TFIIIC subunit, in four patients from three unrelated families of different ethnicities collected through GeneMatcher. The patients exhibited microcephaly, developmental delay, intellectual disability and distinctive dysmorphic facies that appear recognizable in very young children. Their brain imaging showed brain atrophy with predominant cerebellar involvement, as well as hypoplasia of the frontal lobes and one patient had moderate to severe simplified gyral pattern. Seizures were observed in half of the patients. Exome/genome sequencing revealed four different <i>GTF3C3</i> variants including three missense (p.Cys172Gly, p.Val427Phe and p.Ala509Thr) and one nonsense variant (p.Arg717Ter). Missense variants were not present in known genetic databases and occurred in highly conserved residues. Knockout of the <i>GTF3C3</i> ortholog in zebrafish recapitulated the key clinical symptoms including microcephaly, brain anomalies and seizure susceptibility. We also observed reduced RNA polymerase III target gene expression in the zebrafish knockout model. This study describes a new neurodevelopmental syndrome in humans and zebrafish associated with biallelic <i>GTF3C3</i> variants and underscores the need for further research into the biological impacts of variants in TFIIIC-linked genes and their contribution to RNA polymerase III-related pathologies.</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"7 1","pages":"fcaf055"},"PeriodicalIF":4.1,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11878552/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143560386","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
Neurovascular phase coherence is altered in Alzheimer's disease.
IF 4.1
Brain communications Pub Date : 2025-02-03 eCollection Date: 2025-01-01 DOI: 10.1093/braincomms/fcaf007
Juliane Bjerkan, Bernard Meglič, Gemma Lancaster, Jan Kobal, Peter V E McClintock, Trevor J Crawford, Aneta Stefanovska
{"title":"Neurovascular phase coherence is altered in Alzheimer's disease.","authors":"Juliane Bjerkan, Bernard Meglič, Gemma Lancaster, Jan Kobal, Peter V E McClintock, Trevor J Crawford, Aneta Stefanovska","doi":"10.1093/braincomms/fcaf007","DOIUrl":"10.1093/braincomms/fcaf007","url":null,"abstract":"<p><p>Alzheimer's disease is the commonest form of dementia, but its cause still remains elusive. It is characterized by neurodegeneration, with amyloid-beta and tau aggregation. Recently, however, the roles of the vasculature and the neurovascular unit are being highlighted as important for disease progression. In particular, there is reduced microvascular density, and altered gene expression in vascular and glial cells. Structural changes naturally impact the functioning of the neurovascular unit, and the goal of the study was to quantify the corresponding changes <i>in vivo</i>, non-invasively. Our assessment is based on recordings of brain oxygenation, neuronal and cardiorespiratory activities, captured by functional near-infrared spectroscopy, electroencephalogram, electrocardiogram and respiration effort, respectively. Two groups were compared: an Alzheimer's disease group (N = 19) and a control group (N = 20) of similar age. The time-series were analysed using methods that can capture multi-scale and time-varying oscillations such as the wavelet transform power and wavelet phase coherence. The Alzheimer's disease group shows a significant decrease in the power of brain oxygenation oscillations compared to the control group. There is also a significant global reduction in the phase coherence between brain oxygenation time-series. The neurovascular phase coherence around 0.1 Hz is also significantly reduced in the Alzheimer's disease group. In addition, the average respiration rate is increased in the Alzheimer's disease group compared to the control group. We show that the phase coherence between vascular and neuronal activities is reduced in Alzheimer's disease compared to the control group, indicating altered functioning of the neurovascular unit. The brain oxygenation dynamics reveals reduced power and coordination of oscillations, especially in frequency ranges that are associated with vasomotion. This could lead to reduced oxygen delivery to the brain, which could affect ATP production, and potentially reduce amyloid-beta clearance. These changes in neurovascular dynamics have potential for early diagnosis, as a marker of disease progression, and for evaluating the effect of interventions.</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"7 1","pages":"fcaf007"},"PeriodicalIF":4.1,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11852277/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143506595","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
Late-onset unexplained seizures are associated with cognitive impairment and lower amygdala volumes.
IF 4.1
Brain communications Pub Date : 2025-01-31 eCollection Date: 2025-01-01 DOI: 10.1093/braincomms/fcaf050
Rani A Sarkis, Janet Orozco, Hernan Nicolas Lemus, Alexis Hankerson, Lei Liu, Alice D Lam, Emily Johnson, Steven Stufflebeam, Anand Viswanathan, Rebecca E Amariglio, Mallika Purandare, Patrick Trouten, Geoffrey S Young, Joseph J Locascio, Page B Pennell, Gad A Marshall
{"title":"Late-onset unexplained seizures are associated with cognitive impairment and lower amygdala volumes.","authors":"Rani A Sarkis, Janet Orozco, Hernan Nicolas Lemus, Alexis Hankerson, Lei Liu, Alice D Lam, Emily Johnson, Steven Stufflebeam, Anand Viswanathan, Rebecca E Amariglio, Mallika Purandare, Patrick Trouten, Geoffrey S Young, Joseph J Locascio, Page B Pennell, Gad A Marshall","doi":"10.1093/braincomms/fcaf050","DOIUrl":"10.1093/braincomms/fcaf050","url":null,"abstract":"<p><p>Late-onset epilepsy has been linked with accelerated cognitive decline and a higher risk of dementia. In this study, we sought to characterize the cognitive profile of participants with late-onset unexplained epilepsy and compare their MRI findings to healthy controls, to better understand underlying disease mechanisms. We recruited participants with at least one new-onset unexplained seizure at age 55 or later, without cortical lesions on MRI, within 5 years of the first seizure. We administered a neuropsychological battery to generate Preclinical Alzheimer Cognitive Composite and composite scores for delayed verbal recall, processing speed and executive function. We held a consensus meeting to determine whether the participants fulfilled criteria for mild cognitive impairment. An MRI volumetric analysis of hippocampal, amygdalae, and white matter hyperintensity volume was performed and compared to 353 healthy controls from the Harvard Aging Brain Study. On late-onset unexplained epilepsy participants, we also obtained 24-h EEG recording. Seventy participants were recruited, mean age 71.0 ± 7.0 years, 49% female, 15.6 ± 3.0 years of education. Impaired cognition (<i>z</i>-score ≤ -1.5) for late-onset unexplained epilepsy included the following: 15.9% for Preclinical Alzheimer Cognitive Composite -5, 23.2% for delayed verbal recall, 15.6% for processing speed and 7.5% for executive function. Seventeen percent were found to have mild cognitive impairment. Late-onset unexplained epilepsy participants who were drug resistant were more likely to have cognitive impairment (50% vs. 9%). When controlling for age, sex and race, late-onset unexplained epilepsy group had lower left AV (%; β = -0.003, <i>P</i> = 0.0016), right AV (%) (β = -0.003, <i>P</i> = 0.01), and log-transformed WMV (mm<sup>3</sup>; β = -0.21, <i>P</i> = 0.03) compared with Harvard Aging Brain Study (HABS); there were no differences in left or right HV between groups. EEG captured epileptiform abnormalities in 49% late-onset unexplained epilepsy participants, with a left temporal predominance (54%). In this single-site study of prospectively enrolled participants with late-onset unexplained epilepsy, we show that individuals with late-onset unexplained epilepsy exhibit cognitive impairments, mostly in verbal memory, and temporal dysfunction with left-sided predominance. Neuroimaging, when compared with healthy controls, shows lower amygdalae and white matter hyperintensity but not hippocampal volumes suggesting that the amygdalae is one of the earliest sites involved in the disease. The results also highlight the importance of seizure control given the association between mild cognitive impairment and drug-resistant epilepsy. Future studies extending these findings to Alzheimer's disease biomarkers and longitudinal follow-up will inform predictors of cognitive decline.</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"7 1","pages":"fcaf050"},"PeriodicalIF":4.1,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11815171/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411907","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
The cingulum: anatomy, connectivity and what goes beyond.
IF 4.1
Brain communications Pub Date : 2025-01-31 eCollection Date: 2025-01-01 DOI: 10.1093/braincomms/fcaf048
Linda Kollenburg, Hisse Arnts, Alexander Green, Ido Strauss, Saman Vinke, Erkan Kurt
{"title":"The cingulum: anatomy, connectivity and what goes beyond.","authors":"Linda Kollenburg, Hisse Arnts, Alexander Green, Ido Strauss, Saman Vinke, Erkan Kurt","doi":"10.1093/braincomms/fcaf048","DOIUrl":"10.1093/braincomms/fcaf048","url":null,"abstract":"<p><p>For over half a century, the cingulum has been the subject of neuroanatomical and therapeutic investigations owing to its wide range of functions and involvement in various neurological and psychiatric diseases. Recent clinical studies investigating neurosurgical techniques targeting the cingulum, like deep brain stimulation of the anterior cingulate cortex and cingulotomy, have further boosted interests in this central 'hub' as a target for chronic intractable pain. Proper targeting within the cingulum is essential to achieve sufficient pain relief. Despite the cingulum being the centre of research for over a century, its structural and functional organization remains a subject to debate, consequently complicating neurosurgical targeting of this area. This study aims to review anatomical and connectivity data of the cingulum from a clinical perspective in order to improve understanding of its role in pain. For the current study, a systematic literature search was performed to assess the anatomy and functional and structural connectivity of the cingulate bundle and cortex. These outcomes focus on MRI and PET data. Articles were searched within the PubMed database, and additional articles were found manually through reviews or references cited within the articles. After exclusion, 70 articles remained included in this analysis, with 50, 29 and 10 studies describing human, monkey and rat subjects, respectively. Outcomes of this analysis show the presence of various anatomical models, each describing other subdivisions within the cingulum. Moreover, connectivity data suggest that the cingulate bundle consists of three distinct fibre projections, including the thalamocortical, cingulate gyrus and anterior frontal and posterior parietal projections. Further, the cingulum is responsible for a variety of functions involved in chronic pain, like sensory processing, memory, spatial functioning, reward, cognition, emotion, visceromotor and endocrine control. Based on the current outcomes, it can be concluded that the cingulum is a central 'hub' for pain processing, because it is a melting pot for memory, cognition and affect that are involved in the complex phenomenon of pain experience, memory, spatial functioning, reward, cognition, emotion, visceromotor and endocrine control. Variability in anatomical and connectivity models complicate proper and standardized neurosurgical targeting, consequently leading to clinicians often being reluctant on stimulation and/or lesioning of the cingulum. Hence, future research should be dedicated to the standardization of these models, to allow for optimal targeting and management of patients with chronic intractable pain.</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"7 1","pages":"fcaf048"},"PeriodicalIF":4.1,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11824423/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143415860","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
RNF213 p.Arg4810Lys (c.14429G>A) is associated with extracranial arterial stenosis.
IF 4.1
Brain communications Pub Date : 2025-01-31 eCollection Date: 2025-01-01 DOI: 10.1093/braincomms/fcaf049
Daisuke Shimada, Satoru Miyawaki, Kaoru Nakanishi, Takashi Jono, Hibiku Maruoka, Takuya Kawai, Yoichi Harada, Takuji Kono, Koichiro Komatsubara, Jun Nakauchi, Yoshie Matsumoto, Kei Okada, Shogo Dofuku, Hiroki Hongo, Jun Mitsui, Yu Teranishi, Kenta Ohara, Daiichiro Ishigami, Yu Sakai, Hiroyuki Kawano, Akio Noguchi, Hirofumi Nakatomi, Nobuhito Saito, Teruyuki Hirano, Yoshiaki Shiokawa
{"title":"<i>RNF213</i> p.Arg4810Lys (c.14429G>A) is associated with extracranial arterial stenosis.","authors":"Daisuke Shimada, Satoru Miyawaki, Kaoru Nakanishi, Takashi Jono, Hibiku Maruoka, Takuya Kawai, Yoichi Harada, Takuji Kono, Koichiro Komatsubara, Jun Nakauchi, Yoshie Matsumoto, Kei Okada, Shogo Dofuku, Hiroki Hongo, Jun Mitsui, Yu Teranishi, Kenta Ohara, Daiichiro Ishigami, Yu Sakai, Hiroyuki Kawano, Akio Noguchi, Hirofumi Nakatomi, Nobuhito Saito, Teruyuki Hirano, Yoshiaki Shiokawa","doi":"10.1093/braincomms/fcaf049","DOIUrl":"10.1093/braincomms/fcaf049","url":null,"abstract":"<p><p><i>Ring finger protein 213</i> (<i>RNF213</i>) p.Arg4810Lys (c.14429G > A) is associated with intracranial artery stenosis; however, its association with extracranial artery stenosis remains unknown. We aimed to elucidate the clinical significance and association of <i>RNF213</i> p.Arg4810Lys with stroke subtypes, extracranial artery stenosis, and maximum intima-media thickness. A cohort of 600 patients with stroke prospectively collected over 1 year was assessed for the presence of <i>RNF213</i> p.Arg4810Lys. A total of 1202 patients served as controls. The association of <i>RNF213</i> p.Arg4810Lys with various stroke subtypes was studied. In sub-analyses, the association of <i>RNF213</i> p.Arg4810Lys with intracranial artery stenosis/extracranial artery stenosis and maximum intima-media thickness were assessed. <i>RNF213</i> p.Arg4810Lys was more common in patients with stroke (3.3%) than in those without stroke (1.1%). <i>RNF213</i> p.Arg4810Lys was significantly associated with stroke. Among various stroke subtypes, large-artery atherosclerosis, both due to intracranial artery stenosis and extracranial artery stenosis, was most significantly associated with <i>RNF213</i> p.Arg4810Lys. In the sub-analysis, intracranial artery stenosis-only, extracranial artery stenosis-only, and concurrent intracranial artery stenosis and extracranial artery stenosis groups were significantly associated with <i>RNF213</i> p.Arg4810Lys, regardless of stroke type (adjusted odds ratio, 3.72; 95% confidence interval, 1.30-10.60; <i>P</i> <i>=</i> 0.014, adjusted odds ratio, 7.04; 95% confidence interval, 1.51-32.77; <i>P=</i> 0.013, adjusted odds ratio, 11.68; 95% confidence interval, 4.25-32.07; <i>P</i> 0.001, respectively). <i>RNF213</i> p.Arg4810Lys was associated with increased maximum intima-media thickness, measured using carotid artery ultrasonography (multiple regression analysis β = 0.165; <i>P</i> = 0.004). These results were replicated in an independent validation cohort. In conclusion, <i>RNF213</i> p.Arg4810Lys increases the risk of stroke. In addition to intracranial artery stenosis, <i>RNF213</i> p.Arg4810Lys is associated with extracranial artery stenosis and maximum intima-media thickness. Evaluating <i>RNF213</i> p.Arg4810Lys may help predict the incidence and type of stroke.</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"7 1","pages":"fcaf049"},"PeriodicalIF":4.1,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11829204/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143434689","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
The relationship between leisure time physical activity patterns, Alzheimer's disease markers and cognition.
IF 4.1
Brain communications Pub Date : 2025-01-31 eCollection Date: 2025-01-01 DOI: 10.1093/braincomms/fcae431
Sarah-Naomi James, Carole H Sudre, Josephine Barnes, David M Cash, Yu-Jie Chiou, William Coath, Ashvini Keshavan, Kirsty Lu, Ian Malone, Heidi Murray-Smith, Jennifer M Nicholas, Michele Orini, Thomas Parker, Pamela Almeida-Meza, Nick C Fox, Marcus Richards, Jonathan M Schott
{"title":"The relationship between leisure time physical activity patterns, Alzheimer's disease markers and cognition.","authors":"Sarah-Naomi James, Carole H Sudre, Josephine Barnes, David M Cash, Yu-Jie Chiou, William Coath, Ashvini Keshavan, Kirsty Lu, Ian Malone, Heidi Murray-Smith, Jennifer M Nicholas, Michele Orini, Thomas Parker, Pamela Almeida-Meza, Nick C Fox, Marcus Richards, Jonathan M Schott","doi":"10.1093/braincomms/fcae431","DOIUrl":"10.1093/braincomms/fcae431","url":null,"abstract":"<p><p>We assessed the association between leisure time physical activity patterns across 30 years of adulthood with a range of <i>in vivo</i> Alzheimer's disease-related neurodegenerative markers and cognition, and their interplay, at age 70. Participants from the 1946 British birth cohort study prospectively reported leisure time physical activity five times between ages 36 and 69 and were dichotomized into (i) not active (no participation/month) and (ii) active (participated once or more/month) and further derived into: (0) never active (not active); (1) active before 50's only (≤43 years); (2) active from 50's onwards only (≥53 years); (3) always active (active throughout). Participants underwent 18F-florbetapir Aβ and magnetic resonance imaging at age 70. Regression analyses were conducted to assess the direct and the moderating relationship between leisure time physical activity metrics, Alzheimer's disease-related neurodegeneration markers (including Aβ status, hippocampal and whole-brain volume, and cortical thickness in Alzheimer's disease signature regions) and cognition. All models were adjusted for childhood cognition, education and childhood socioeconomic position, and examined by sex. Findings drawn from 468 participants (49% female) demonstrated a direct association between being active before 50 years old (≤43 years) and throughout life (up to age 69 years), with larger hippocampal volume at age 70 (<i>P</i> < 0.05). There was little evidence that leisure time physical activity had direct effects on other brain health measures (all <i>P</i> > 0.05). However, leisure time physical activity patterns modified and attenuated the association between poorer cognitive functioning at age 70 and a range of Alzheimer's disease-related neurodegenerative markers (Aβ status; hippocampal and whole-brain volume; cortical thickness in Alzheimer's disease regions) (all <i>P</i> < 0.05). We found suggestive evidence that women with early markers of Alzheimer's disease-related neurodegeneration were most sensitive to leisure time physical activity patterns: a lifetime of inactivity in women exacerbated the manifestation of early Alzheimer's disease markers (Aβ and cortical thickness-related cognition), yet, if women were active across life or early in life, it mostly buffered these negative relationships. Engagement in leisure time physical activity in the life course is associated with better cognitive functioning at age 70, even in those with early markers of Alzheimer's disease. If causal, this is likely via multiple pathways, potentially through the preservation of hippocampal volume, as well as via cognitive resilience pathways delaying cognitive manifestations of early markers of Alzheimer's disease, particularly in women. Our findings warrant further research to shed light on the mechanisms of physical activity as a potential disease-modifying intervention of brain health and cognitive resilience.</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"7 1","pages":"fcae431"},"PeriodicalIF":4.1,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11781833/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143082582","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
Niacin ameliorates Charcot-Marie-Tooth 4B1 neuropathy without interfering with nerve regeneration.
IF 4.1
Brain communications Pub Date : 2025-01-31 eCollection Date: 2025-01-01 DOI: 10.1093/braincomms/fcaf039
Silvia Cipriani, Emanuela Porrello, Matteo Cerea, Andrea Gazzaniga, Roberta Di Guardo, Amanda Heslegrave, Serena Valenzano, Ubaldo Del Carro, Phu Duong, John Svaren, Stefano Carlo Previtali, Alessandra Bolino
{"title":"Niacin ameliorates Charcot-Marie-Tooth 4B1 neuropathy without interfering with nerve regeneration.","authors":"Silvia Cipriani, Emanuela Porrello, Matteo Cerea, Andrea Gazzaniga, Roberta Di Guardo, Amanda Heslegrave, Serena Valenzano, Ubaldo Del Carro, Phu Duong, John Svaren, Stefano Carlo Previtali, Alessandra Bolino","doi":"10.1093/braincomms/fcaf039","DOIUrl":"10.1093/braincomms/fcaf039","url":null,"abstract":"<p><p>Charcot-Marie-Tooth (CMT) neuropathies represent a broad and very heterogeneous group of disorders for which no therapies are yet available. Due to the huge genetic heterogeneity, therapeutical approaches that can benefit several forms independently of the unique pathogenetic mechanism have been sought. Niacin, nicotinic acid, is a vitamin used for many decades as anti-dyslipidaemic and anti-cholesterol drug product under the commercial name of Niaspan<sup>®</sup>, the extended-release formulation of niacin. Of note, niacin can have other effects depending on the dose, formulation and physiology and it has been used to reduce inflammation, to promote angiogenesis and to protect neurons, muscle and axons by boosting nicotinamide adenine dinucleotide (NAD<sup>+</sup>) levels. Niacin also activates TNF-alpha convertase enzyme (TACE) secretase, which negatively regulates Neuregulin type I-mediated signalling in the peripheral nervous system and myelination. We previously postulated that niacin-mediated TACE activation can be effective in reducing aberrant excessive myelin associated with different CMT forms. Here, we explored efficacy of this strategy by performing a long-term preclinical trial and we provided evidence that a novel niacin-based long-lasting formulation ameliorates neurophysiology and reduces fibre degeneration in a model of Charcot-Marie-Tooth type 4B1 (CMT4B1) neuropathy, characterized by aberrant myelin. We also sought to determine whether this strategy might interfere with nerve regeneration, which is dependent on Neuregulin type I signalling. Surprisingly, we found that the <i>Mtmr2</i> knockout mice, a model of CMT4B1, have a defect in nerve regeneration and that niacin-based treatment is not detrimental to nerve regeneration.</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"7 1","pages":"fcaf039"},"PeriodicalIF":4.1,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11803425/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143384512","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
Predicting individual long-term prognosis of spatial neglect based on acute stroke patient data.
IF 4.1
Brain communications Pub Date : 2025-01-31 eCollection Date: 2025-01-01 DOI: 10.1093/braincomms/fcaf047
Lisa Röhrig, Daniel Wiesen, Dongyun Li, Christopher Rorden, Hans-Otto Karnath
{"title":"Predicting individual long-term prognosis of spatial neglect based on acute stroke patient data.","authors":"Lisa Röhrig, Daniel Wiesen, Dongyun Li, Christopher Rorden, Hans-Otto Karnath","doi":"10.1093/braincomms/fcaf047","DOIUrl":"10.1093/braincomms/fcaf047","url":null,"abstract":"<p><p>One of the most pressing questions after a stroke is whether an individual patient will recover in the long term. Previous studies demonstrated that spatial neglect-a common cognitive deficit after right hemispheric stroke-is a strong predictor for poor performance on a wide range of everyday tasks and for resistance to rehabilitation. The possibility of predicting long-term prognosis of spatial neglect is therefore of great relevance. The aim of the present study was to test the prognostic value of different imaging and non-imaging features from right hemispheric stroke patients: individual demographics (age, sex), initial neglect severity and acute lesion information (size, location). Patients' behaviour was tested twice in the acute and the chronic phases of stroke and prediction models were built using machine learning-based algorithms with repeated nested cross-validation and feature selection. Model performances indicate that demographic information seemed less beneficial. The best variable combination comprised individual neglect severity in the acute phase of stroke, together with lesion location and size. The latter were based on individual lesion overlaps with a previously proposed chronic neglect region of interest that covers anterior parts of the superior and middle temporal gyri and the basal ganglia. These variables achieved a remarkably high level of accuracy by explaining 66% of the total variance of neglect patients, making them promising features in the prediction of individual outcome prognosis. An online tool is provided with which our algorithm can be used for individual outcome predictions (https://niivue.github.io/niivue-neglect/).</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"7 1","pages":"fcaf047"},"PeriodicalIF":4.1,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11814933/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411910","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
Brain connectivity in individuals with migraine resets during the headache phase: a whole-brain connectivity study.
IF 4.1
Brain communications Pub Date : 2025-01-30 eCollection Date: 2025-01-01 DOI: 10.1093/braincomms/fcaf045
Enrico Schulz, Astrid Mayr, Pauline Jahn, Anne Stankewitz
{"title":"Brain connectivity in individuals with migraine resets during the headache phase: a whole-brain connectivity study.","authors":"Enrico Schulz, Astrid Mayr, Pauline Jahn, Anne Stankewitz","doi":"10.1093/braincomms/fcaf045","DOIUrl":"10.1093/braincomms/fcaf045","url":null,"abstract":"<p><p>Episodic migraine is reflected by cyclic changes in behavior and cortical processing. We aimed to identify how functional connectivity changes over the entire migraine cycle. By using longitudinal neuroimaging and a whole-brain connectivity analysis approach, we tested 12 episodic migraine patients across 82 functional MRI recordings during spontaneous migraine headaches with follow-up measurements over the pain-free interval without any external stimulation. We found that the functional connectivity linearly increased over the interictal interval. In the prodromal phase, we observed the strongest connections between the anterior agranular insula and the posterior orbitofrontal cortex with sensory, motor and cingulate areas. The strength of the connections dropped during the headache. Peak connectivity during the prodromal phase and its collapse during the headache can be regarded as a mechanism of normalizing cortical processing. We speculate about a malfunction at the molecular level in agranular frontal and insular regions, which needs to be addressed in subsequent studies.</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"7 1","pages":"fcaf045"},"PeriodicalIF":4.1,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11829205/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143434691","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
CSF production rate, resistance to reabsorption, and intracranial pressure: a systematic review and meta-analysis.
IF 4.1
Brain communications Pub Date : 2025-01-30 eCollection Date: 2025-01-01 DOI: 10.1093/braincomms/fcaf044
Ihsane Olakorede, Stefan Y Bögli, Zofia Czosnyka, Marek Czosnyka, Peter Smielewski
{"title":"CSF production rate, resistance to reabsorption, and intracranial pressure: a systematic review and meta-analysis.","authors":"Ihsane Olakorede, Stefan Y Bögli, Zofia Czosnyka, Marek Czosnyka, Peter Smielewski","doi":"10.1093/braincomms/fcaf044","DOIUrl":"10.1093/braincomms/fcaf044","url":null,"abstract":"<p><p>Davson's equation relates the state of stable intracranial pressure (ICP) to the production rate of CSF (I<sub>F</sub>) and resistance to CSF outflow (R<sub>OUT</sub>). Both parameters are assumed to be independent of ICP, but results are conflicting. The objective is to define the relationship between ICP, I<sub>F</sub> and R<sub>OUT</sub> using a systematic literature review. Medline and Embase were searched from inception up to 12 February 2024. Experimental studies exploring the association between ICP, I<sub>F,</sub> and R<sub>OUT</sub> were included. Individual measurements of ICP, I<sub>F</sub> and/or R<sub>OUT</sub> were extracted from tables or graphs, alongside descriptive parameters (population, ICP measurement site, disease, and computational method). Linear regression and mixed effects models were applied. From 1304 references, 25 articles were included in our meta-analysis. I<sub>F</sub> is approximately constant across all pathologies independent of the ICP level, population, disease, ICP measurement site and the measurement/estimation method. Conversely, ICP was positively correlated with R<sub>OUT</sub>. The intercorrelation, however, differed by population, disease, ICP measurement site and estimation method. Additionally, I<sub>F</sub> derived from Davson's Equation compared with the measured I<sub>F</sub> were similar for patients with hydrocephalus but differed for patients with acute brain injury. Davson's Equation describes the various components of cerebrospinal fluid dynamics. The results underline important caveats for its use in patients with acute brain injury wherein the estimated values differ from the measured ones. Overall, additional metrics describing the cerebrovascular system or the underlying disease have to be taken into account for more accurate estimations.</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"7 1","pages":"fcaf044"},"PeriodicalIF":4.1,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11822472/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143416625","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:481959085
Book学术官方微信