Basal Ganglia Research Articles

The impact of Parkinson’s disease on striatal network connectivity and corticostriatal drive: An in silico study

Abstract Striatum, the input stage of the basal ganglia, is important for sensory-motor integration, initiation and selection of behavior, as well as reward learning. Striatum receives glutamatergic inputs from mainly cortex and thalamus. In rodents, the striatal projection neurons (SPNs), giving rise to the direct and the indirect pathway (dSPNs and iSPNs, respectively), account for 95% of the neurons, and the remaining 5% are GABAergic and cholinergic interneurons. Interneuron axon terminals as well as local dSPN and iSPN axon collaterals form an intricate striatal network. Following chronic dopamine depletion as in Parkinson’s disease (PD), both morphological and electrophysiological striatal neuronal features have been shown to be altered in rodent models. Our goal with this in silico study is twofold: (a) to predict and quantify how the intrastriatal network connectivity structure becomes altered as a consequence of the morphological changes reported at the single-neuron level and (b) to investigate how the effective glutamatergic drive to the SPNs would need to be altered to account for the activity level seen in SPNs during PD. In summary, we predict that the richness of the connectivity motifs in the striatal network is significantly decreased during PD while, at the same time, a substantial enhancement of the effective glutamatergic drive to striatum is present.

Neural representations of beat and rhythm in motor and association regions.

Humans perceive a pulse, or beat, underlying musical rhythm. Beat strength correlates with activity in the basal ganglia and supplementary motor area, suggesting these regions support beat perception. However, the basal ganglia and supplementary motor area are part of a general rhythm and timing network (regardless of the beat) and may also represent basic rhythmic features (e.g. tempo, number of onsets). To characterize the encoding of beat-related and other basic rhythmic features, we used representational similarity analysis. During functional magnetic resonance imaging, participants heard 12 rhythms-4 strong-beat, 4 weak-beat, and 4 nonbeat. Multi-voxel activity patterns for each rhythm were tested to determine which brain areas were beat-sensitive: those in which activity patterns showed greater dissimilarities between rhythms of different beat strength than between rhythms of similar beat strength. Indeed, putamen and supplementary motor area activity patterns were significantly dissimilar for strong-beat and nonbeat conditions. Next, we tested whether basic rhythmic features or models of beat strength (counterevidence scores) predicted activity patterns. We found again that activity pattern dissimilarity in supplementary motor area and putamen correlated with beat strength models, not basic features. Beat strength models also correlated with activity pattern dissimilarities in the inferior frontal gyrus and inferior parietal lobe, though these regions encoded beat and rhythm simultaneously and were not driven by beat alone.

Cholinergic Basal Forebrain Integrity and Cognition in Parkinson's Disease: A Reappraisal of Magnetic Resonance Imaging Evidence.

Cognitive impairment is a well-recognized and debilitating symptom of Parkinson's disease (PD). Degradation in the cortical cholinergic system is thought to be a key contributor. Both postmortem and in vivo cholinergic positron emission tomography (PET) studies have provided valuable evidence of cholinergic system changes in PD, which are pronounced in PD dementia (PDD). A growing body of literature has employed magnetic resonance imaging (MRI), a noninvasive, more cost-effective alternative to PET, to examine cholinergic system structural changes in PD. This review provides a comprehensive discussion of the methodologies and findings of studies that have focused on the relationship between cholinergic basal forebrain (cBF) integrity, based on T1- and diffusion-weighted MRI, and cognitive function in PD. Nucleus basalis of Meynert (Ch4) volume has been consistently reduced in cognitively impaired PD samples and has shown potential utility as a prognostic indicator for future cognitive decline. However, the extent of structural changes in Ch4, especially in early stages of cognitive decline in PD, remains unclear. In addition, evidence for structural change in anterior cBF regions in PD has not been well established. This review underscores the importance of continued cross-sectional and longitudinal research to elucidate the role of cholinergic dysfunction in the cognitive manifestations of PD. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Predicting cerebral edema in patients with spontaneous intracerebral hemorrhage using machine learning.

The early prediction of cerebral edema changes in patients with spontaneous intracerebral hemorrhage (SICH) may facilitate earlier interventions and result in improved outcomes. This study aimed to develop and validate machine learning models to predict cerebral edema changes within 72 h, using readily available clinical parameters, and to identify relevant influencing factors. An observational study was conducted between April 2021 and October 2023 at the Quzhou Affiliated Hospital of Wenzhou Medical University. After preprocessing the data, the study population was randomly divided into training and internal validation cohorts in a 7:3 ratio (training: N = 150; validation: N = 65). The most relevant variables were selected using Support Vector Machine Recursive Feature Elimination (SVM-RFE) and Least Absolute Shrinkage and Selection Operator (LASSO) algorithms. The predictive performance of random forest (RF), GDBT, linear regression (LR), and XGBoost models was evaluated using the area under the receiver operating characteristic curve (AUROC), precision-recall curve (AUPRC), accuracy, F1-score, precision, recall, sensitivity, and specificity. Feature importance was calculated, and the SHapley Additive exPlanations (SHAP) and Local Interpretable Model-Agnostic Explanations (LIME) methods were employed to explain the top-performing model. A total of 84 (39.1%) patients developed cerebral edema changes. In the validation cohort, GDBT outperformed LR and RF, achieving an AUC of 0.654 (95% CI: 0.611-0.699) compared to LR of 0.578 (95% CI, 0.535-0.623, DeLong: p = 0.197) and RF of 0.624 (95% CI, 0.588-0.687, DeLong: p = 0.236). XGBoost also demonstrated similar performance with an AUC of 0.660 (95% CI, 0.611-0.711, DeLong: p = 0.963). However, in the training set, GDBT still outperformed XGBoost, with an AUC of 0.603 ± 0.100 compared to XGBoost of 0.575 ± 0.096. SHAP analysis revealed that serum sodium, HDL, subarachnoid hemorrhage volume, sex, and left basal ganglia hemorrhage volume were the top five most important features for predicting cerebral edema changes in the GDBT model. The GDBT model demonstrated the best performance in predicting 72-h changes in cerebral edema. It has the potential to assist clinicians in identifying high-risk patients and guiding clinical decision-making.

Therapeutic ultrasound: an innovative approach for targeting neurological disorders affecting the basal ganglia.

The basal ganglia are involved in motor control and action selection, and their impairment manifests in movement disorders such as Parkinson's disease (PD) and dystonia, among others. The complex neuronal circuitry of the basal ganglia is located deep inside the brain and presents significant treatment challenges. Conventional treatment strategies, such as invasive surgeries and medications, may have limited effectiveness and may result in considerable side effects. Non-invasive ultrasound (US) treatment approaches are becoming increasingly recognized for their therapeutic potential for reversibly permeabilizing the blood-brain barrier (BBB), targeting therapeutic delivery deep into the brain, and neuromodulation. Studies conducted on animals and early clinical trials using ultrasound as a therapeutic modality have demonstrated promising outcomes for controlling symptom severity while preserving neural tissue. These results could improve the quality of life for patients living with basal ganglia impairments. This review article explores the therapeutic frontiers of ultrasound technology, describing the brain mechanisms that are triggered and engaged by ultrasound. We demonstrate that this cutting-edge method could transform the way neurological disorders associated with the basal ganglia are managed, opening the door to less invasive and more effective treatments.

The relationship between the extent of posterior limb of the internal capsule damage measured by non-contrast computed tomography and clinical outcomes after basal ganglia hemorrhage.

Assessing the extent of damage to the posterior limb of the internal capsule(PLIC) is important for early prediction of clinical outcomes in intracerebral hemorrhage (ICH) patients. Currently, using MRI to reconstruct the extent of damage to PLIC is not suitable for quick assessment of prognosis in emergency settings. We aimed to investigate whether the PLIC damage quantified by non-contrast computed tomography (NCCT) is associated with clinical outcomes after basal ganglia intracerebral hemorrhage (BG-ICH). This study retrospectively included 146 BG-ICH patients from the Department of Neurosurgery at the Second Affiliated Hospital of Chongqing Medical University. The damage to the PLIC was quantified using Tangency X measured by NCCT. The importance of features is determined using the Boruta algorithm and Least Absolute Shrinkage and Selection Operator (LASSO) regression. Multivariate logistic regression models were established to examine the impact of PLIC damage on outcomes. Restricted Cubic Splines (RCS) were used to explore potential nonlinear relationships, and Receiver Operating Characteristic (ROC) curves were used to compare the predictive performance of Tangency X with other scoring systems for 6-month neurological outcomes (poor outcomes [mRS: 3-6]). In the multivariate logistic regression adjusting for all covariates, Tangency X was independently associated with an increased risk of poor outcomes (OR = 1.32, 95% CI: 1.17-1.52) in BG-ICH patients. There is a nonlinear relationship between Tangency X and poor outcomes. Specifically, the risk of poor outcomes increases by 1.29 times (OR = 1.29, 95% CI: 1.09-1.67) for each additional 1mm increase in Tangency X beyond 4mm. We next observed that the AUC for Tangency X in predicting poor outcomes is 0.8511. The extent of PLIC damage measured by NCCT may represent a promising predictor of poor outcomes after BG-ICH.

Hypoglycemic drugs, circulating inflammatory proteins, and gallbladder diseases: A mediation mendelian randomization study

BackgroundThe relationship of hypoglycemic drugs, inflammatory proteins and gallbladder diseases remain unknown. MethodsFour hypoglycemic drugs were selected as exposure: glucagon-like peptide-1 receptor agonists (GLP-1RA), dipeptidyl peptidase-4 inhibitors (DPP-4i), sodium-glucose cotransporter 2 inhibitors (SGLT-2i), and metformin. The outcome were two gallbladder diseases: cholecystitis and cholelithiasis. Mendelian Randomization (MR) was employed to determine the association between hypoglycemic drugs and gallbladder diseases. ResultsDPP-4i and SGLT-2i had no effect on cholecystitis and cholelithiasis. However, a causal relationship was found between inhibition of ETFDH gene, a target of metformin expressed in cultured fibroblasts, and cholelithiasis (OR: 0.84, 95 %CI: (0.72,0.97), p = 0.021), as well as between GLP1R expression in the brain caudate basal ganglia and cholecystitis (OR: 1.29, 95 %CI: (1.11,1.49), p = 0.001). The effect of ETFDH inhibition on cholelithiasis through Interleukin-10 receptor subunit beta (IL-10RB) levels and Neurotrophin-3 (NT-3) levels, with a mediated proportion of 8 % and 8 %, respectively. ConclusionMetformin plays a protective role in cholelithiasis, while GLP-1RA have a harmful effect on the risk of cholecystitis. Metformin may reduce the risk of cholelithiasis by modulating the levels of Neurotrophin-3 (NT-3) and Interleukin-10 receptor subunit beta (IL-10RB). Further clinical and mechanistic studies are required to confirm these findings.

The genetic landscape of basal ganglia and implications for common brain disorders

The basal ganglia are subcortical brain structures involved in motor control, cognition, and emotion regulation. We conducted univariate and multivariate genome-wide association analyses (GWAS) to explore the genetic architecture of basal ganglia volumes using brain scans obtained from 34,794 Europeans with replication in 4,808 white and generalization in 5,220 non-white Europeans. Our multivariate GWAS identified 72 genetic loci associated with basal ganglia volumes with a replication rate of 55.6% at P < 0.05 and 87.5% showed the same direction, revealing a distributed genetic architecture across basal ganglia structures. Of these, 50 loci were novel, including exonic regions of APOE, NBR1 and HLAA. We examined the genetic overlap between basal ganglia volumes and several neurological and psychiatric disorders. The strongest genetic overlap was between basal ganglia and Parkinson’s disease, as supported by robust LD-score regression-based genetic correlations. Mendelian randomization indicated genetic liability to larger striatal volume as potentially causal for Parkinson’s disease, in addition to a suggestive causal effect of greater genetic liability to Alzheimer’s disease on smaller accumbens. Functional analyses implicated neurogenesis, neuron differentiation and development in basal ganglia volumes. These results enhance our understanding of the genetic architecture and molecular associations of basal ganglia structure and their role in brain disorders.

Frequent absent mindedness and the neural mechanism trapped by mobile phone addiction

IntroductionWith the increased availability and sophistication of digital devices in the last decade, young people have become mainstream mobile phone users. Heavy mobile phone dependence causes affective problems (depression, anxiety) and loss of attention on current activities, leading to more cluttered thoughts. Problematic mobile phone use has been found to increase the occurrence of mind wandering, but the neural mechanism underlying this relationship remains unclear. MethodThe current study aimed to investigate the neural mechanism between mobile phone use and mind wandering. 459 university students (averaged age, 19.26 years) from datasets (ongoing research project named Gene-Brain-Behavior project, GBB) completed psychological assessments of mobile phone addiction and mind wandering and underwent resting-state functional connectivity (FC) scanning. FC matrix was constructed to further conduct correlation and mediation analyses. ResultsStudents with high mobile phone addiction scores were more likely to have high mind wandering scores. Functional connectivity among the default mode, motor, frontoparietal, basal ganglia, limbic, medial frontal, visual association, and cerebellar networks formed the neural basis of mind wandering. Functional connectivity between the frontoparietal and motor networks, between the default mode network and cerebellar network, and within the cerebellar network mediated the relationship between mobile phone addiction and mind wandering. ConclusionThe findings of this study confirm that mobile phone addiction is a risk factor for increased mind wandering and reveal that FC in several brain networks underlies this relationship. They contribute to research on behavioral addiction, education, and mental health among young adults.

NEUROINFLAMMATION IN PARKINSON’S DISEASE: A STUDY WITH [11C]PBR28 PET AND CEREBROSPINAL FLUID MARKERS

ObjectiveTo investigate neuroinflammation in Parkinson’s disease (PD) with [11C]PBR28 positron emission tomography (PET) and cerebrospinal fluid (CSF) biomarkers, and the relationship to dopaminergic functioning measured with 6-[18F]-fluoro-L-dopa ([18F]FDOPA) PET. MethodsThe clinical cohort consisted of 20 subjects with PD and 51 healthy controls (HC). All HC and 15 PD participants underwent [11C]PBR28 High Resolution Research Tomograph (HRRT) PET for the quantitative assessment of cerebral binding to the translocator protein (TSPO), a neuroinflammation marker. CSF samples were available from 17 subjects with PD and 21 HC and were examined for soluble triggering receptor expressed on myeloid cells 2 (sTREM2), chitinase 3-like 1 protein (YKL-40), neurogranin (NG), alpha-synuclein (aSyn) and oligo-alpha-synuclein. All subjects with PD underwent [18F]FDOPA HRRT PET. ResultsWhile the subjects with PD and HC did not differ in the total volume of distribution (VT) of [11C]PBR28 in any studied brain regions, higher levels of neuroinflammation and neurodegeneration CSF biomarkers sTREM2 and NG, respectively were associated with more severe motor symptoms evaluated by The Unified Parkinson’s Disease Rating Scale motor part (UPDRS-III) (r = 0.52, p=0.041 and r = 0.59, p=0.016 respectively). Additionally, in the PD group increased [11C]PBR28 VT in the basal ganglia and substantia nigra (SN) was related to higher levels of neuroinflammation biomarker YKL-40 (p <0.01). ConclusionAssociations between CSF biomarkers, motor disability and [11C]PBR28 VT in the striatum and SN may support a role for neuroinflammation in PD.

Striato-pallidal oscillatory connectivity correlates with symptom severity in dystonia patients

Dystonia is a hyperkinetic movement disorder that has been associated with an imbalance towards the direct pathway between striatum and internal pallidum, but the neuronal underpinnings of this abnormal basal ganglia pathway activity remain unknown. Here, we report invasive recordings from ten dystonia patients via deep brain stimulation electrodes that allow for parallel recordings of several basal ganglia nuclei, namely the striatum, external and internal pallidum, that all displayed activity in the low frequency band (3–12 Hz). In addition to a correlation with low-frequency activity in the internal pallidum (R = 0.88, P = 0.001), we demonstrate that dystonic symptoms correlate specifically with low-frequency coupling between striatum and internal pallidum (R = 0.75, P = 0.009). This points towards a pathophysiological role of the direct striato-pallidal pathway in dystonia that is conveyed via coupling in the enhanced low-frequency band. Our study provides a mechanistic insight into the pathophysiology of dystonia by revealing a link between symptom severity and frequency-specific coupling of distinct basal ganglia pathways.

The unique contribution of uncertainty reduction during naturalistic language comprehension

Language comprehension is an incremental process with prediction. Delineating various mental states during such a process is critical to understanding the relationship between human cognition and the properties of language. Entropy reduction, which indicates the dynamic decrease of uncertainty as language input unfolds, has been recognized as effective in predicting neural responses during comprehension. According to the entropy reduction hypothesis (Hale, 2006), entropy reduction is related to the processing difficulty of a word, the effect of which may overlap with other well-documented information-theoretical metrics such as surprisal or next-word entropy. However, the processing difficulty was often confused with the information conveyed by a word, especially lacking neural differentiation. We propose that entropy reduction represents the cognitive neural process of information gain that can be dissociated from processing difficulty. This study characterized various information-theoretical metrics using GPT-2 and identified the unique effects of entropy reduction in predicting fMRI time series acquired during language comprehension. In addition to the effects of surprisal and entropy, entropy reduction was associated with activations in the left inferior frontal gyrus, bilateral ventromedial prefrontal cortex, insula, thalamus, basal ganglia, and middle cingulate cortex. The reduction of uncertainty, rather than its fluctuation, proved to be an effective factor in modeling neural responses. The neural substrates underlying the reduction in uncertainty might imply the brain’s desire for information regardless of processing difficulty.

Global motor dynamics - Invariant neural representations of motor behavior in distributed brain-wide recordings

Objective.Motor-related neural activity is more widespread than previously thought, as pervasive brain-wide neural correlates of motor behavior have been reported in various animal species. Brain-wide movement-related neural activity have been observed in individual brain areas in humans as well, but it is unknown to what extent global patterns exist.Approach.Here, we use a decoding approach to capture and characterize brain-wide neural correlates of movement. We recorded invasive electrophysiological data from stereotactic electroencephalographic electrodes implanted in eight epilepsy patients who performed both an executed and imagined grasping task. Combined, these electrodes cover the whole brain, including deeper structures such as the hippocampus, insula and basal ganglia. We extract a low-dimensional representation and classify movement from rest trials using a Riemannian decoder.Main results.We reveal global neural dynamics that are predictive across tasks and participants. Using an ablation analysis, we demonstrate that these dynamics remain remarkably stable under loss of information. Similarly, the dynamics remain stable across participants, as we were able to predict movement across participants using transfer learning.Significance.Our results show that decodable global motor-related neural dynamics exist within a low-dimensional space. The dynamics are predictive of movement, nearly brain-wide and present in all our participants. The results broaden the scope to brain-wide investigations, and may allow combining datasets of multiple participants with varying electrode locations or calibrationless neural decoder.

Striosomes control dopamine via dual pathways paralleling canonical basal ganglia circuits.

Balanced activity of canonical direct D1 and indirect D2 basal ganglia pathways is considered a core requirement for normal movement, and their imbalance is an etiologic factor in movement and neuropsychiatric disorders. We present evidence for a conceptually equivalent pair of direct D1 and indirect D2 pathways that arise from striatal projection neurons (SPNs) of the striosome compartment rather than from SPNs of the matrix, as do the canonical pathways. These striosomal D1 (S-D1) and D2 (S-D2) pathways target substantia nigra dopamine-containing neurons instead of basal ganglia motor output nuclei. They modulate movement with net effects opposite to those exerted by the canonical pathways: S-D1 is net inhibitory and S-D2 is net excitatory. The S-D1 and S-D2 circuits likely influence motivation for learning and action, complementing and reorienting canonical pathway modulation. A major conceptual reformulation of the classic direct-indirect pathway model of basal ganglia function is needed, as well as reconsideration of the effects of D2-targeting therapeutic drugs.

Perspectives in the investigation of Cockayne syndrome group B neurological disease: the utility of patient-derived brain organoid models.

Cockayne syndrome (CS) group B (CSB), which results from mutations in the excision repair cross-complementation group 6 (ERCC6) genes, which produce CSB protein, is an autosomal recessive disease characterized by multiple progressive disorders including growth failure, microcephaly, skin photosensitivity, and premature aging. Clinical data show that brain atrophy, demyelination, and calcification are the main neurological manifestations of CS, which progress with time. Neuronal loss and calcification occur in various brain areas, particularly the cerebellum and basal ganglia, resulting in dyskinesia, ataxia, and limb tremors in CSB patients. However, the understanding of neurodevelopmental defects in CS has been constrained by the lack of significant neurodevelopmental and functional abnormalities observed in CSB-deficient mice. In this review, we focus on elucidating the protein structure and distribution of CSB and delve into the impact of CSB mutations on the development and function of the nervous system. In addition, we provide an overview of research models that have been instrumental in exploring CS disorders, with a forward-looking perspective on the substantial contributions that brain organoids are poised to further advance this field.

History of Peripartum Depression Moderates the Association Between Estradiol Polygenic Risk Scores and Basal Ganglia Volumes in Major Depressive Disorder

The neurobiological differences between women who have experienced a peripartum episode and those who have only had episodes outside of this period are not well understood. 64 parous female patients with major depressive disorder that have either a positive (n=30) or negative (n=34) history of peripartum depression (PPD) underwent MRI acquisition to obtain structural brain images. An independent two-sample t-test comparing patients with and without a history of PPD was performed using voxel-based morphometry analysis (VBM). Additionally, polygenic risk scores (PRSs) for estradiol were calculated and a moderation analysis was conducted between 3 estradiol PRSs and PPD history status on extracted cluster volumes using IBM SPSS PROCESS macro. The VBM analysis identified larger grey matter volumes in bilateral clusters encompassing the putamen, pallidum, caudate, and thalamus in patients with PPD history compared to patients without a history. The moderation analysis identified a significant interaction of 2 estradiol PRSs and PPD history on grey matter cluster volumes with a positive effect in PPD women and a negative effect in women with no history of PPD. Our findings demonstrate that women who have experienced a peripartum episode are neurobiologically distinct from women who have no history of PPD in a cluster within the basal ganglia, an area important for motivation, decision-making, and emotional processing. Furthermore, we show that the genetic load for estradiol has a differing effect in this area based on PPD status which supports the claim that PPD is associated with sensitivity to sex steroid hormones.

Shared subcortical arousal systems across sensory modalities during transient modulation of attention.

Subcortical arousal systems are known to play a key role in controlling sustained changes in attention and conscious awareness. Recent studies indicate that these systems have a major influence on short-term dynamic modulation of visual attention, but their role across sensory modalities is not fully understood. In this study, we investigated shared subcortical arousal systems across sensory modalities during transient changes in attention using block and event-related fMRI paradigms. We analyzed massive publicly available fMRI datasets collected while 1,561 participants performed visual, auditory, tactile, and taste perception tasks. Our analyses revealed a shared circuit of subcortical arousal systems exhibiting early transient increases in activity in midbrain reticular formation and central thalamus across perceptual modalities, as well as less consistent increases in pons, hypothalamus, basal forebrain, and basal ganglia. Identifying these networks is critical for understanding mechanisms of normal attention and consciousness and may help facilitate subcortical targeting for therapeutic neuromodulation.

T2 Hyperintensities in Children with Neurofibromatosis Type 1

Areas of increased signal intensity, known as T2 hyperintensities (T2Hs), observed on T2-weighted magnetic resonance imaging (MRI) scans, are linked to a spectrum of brain abnormalities in children with neurofibromatosis type 1 (NF1). Defining the radiological characteristics that distinguish non-neoplastic from neoplastic T2Hs in children with NF1 is crucial. Then, we could identify lesions that most likely to require oncologic surveillance. We conducted a single-center retrospective review of all available brain MRIs from 98 children with NF1 and 50 healthy pediatric controls. All T2Hs identified on MRI were characterized based on location, imaging features, presence of lesion related symptoms. Subsequently, all T2Hs were classified using newly established criteria and categorized into three distinct groups: low-risk tumor lesions, medium-risk tumor lesions, and high-risk tumor lesions. Lesions deemed to be high-risk will be recommended for surgical treatment. T2Hs were present in 61 (62.2%) individuals of the NF1 cohort. T2Hs were a highly sensitive (100%; 95% confidence interval [CI] 92.9%-100.0%) and specific (62.2%; 95% CI 51.9%-71.8%) marker for the diagnosis of NF1. In children aged 4-10, the detection rate of T2Hs is significantly higher than in children under 4 years old and those aged between 10 and 18(P<0.05). T2Hs were most frequently located in basal ganglia, cerebellar hemispheres, and brainstem. During the follow-up process, none of lesions categorized as low-risk or medium-risk tumor lesions progressed to high-risk tumor lesions. Seven patients had high-risk tumor lesions and underwent surgical treatment.The pathological assessment identified 5 cases of glioma among the 7 patients, along with 1 case of gliosis and 1 case of vascular dysplasia. Low-risk and medium-risk tumor lesions can both be classified as unidentified bright objects(UBOs).UBOs constituted the majority of T2Hs in children with NF1. High-risk tumor lesions should be considered as probable tumors.With the application of standardized radiologic criteria, a high prevalence of probable brain tumors will be identified in this at-risk population of children, which underscores the importance of vigilant and appropriate oncological surveillance to ensure timely detection and intervention for these tumors.

Quantitative Susceptibility Mapping Values Quantification in Deep Gray Matter Structures for Relapsing-Remitting Multiple Sclerosis: A Systematic Review and Meta-Analysis.

This systematic review and meta-analysis aimed to investigate the role of magnetic susceptibility (χ) in deep gray matter (DGM) structures, including the putamen (PUT), globus pallidus (GP), caudate nucleus (CN), and thalamus, in the most common types of multiple sclerosis (MS) and relapsing-remitting MS (RRMS), using quantitative susceptibility mapping (QSM). The literature was systematically reviewed up to November 2023, adhering to PRISMA guidelines. This study was conducted using a random-effects model to calculate the standardized mean difference (SMD) in QSM values between patients with RRMS and healthy controls (HCs). Publication bias and risk of bias were also assessed. Nine studies involving 1074 RRMS patients with RRMS and 640 HCs were included in the meta-analysis. The results showed significantly higher QSM (χ) values in the PUT (SMD = 0.40, 95% confidence interval [CI] = 0.22-0.59, p =.000), GP (SMD = 0.60, 95% CI = 0.50-0.70, p =.00), and CN (SMD = 0.40, 95% CI = 0.15-0.66, p =.005) of RRMS patients compared to HCs. However, there were no significant differences in the QSM values in the thalamus between patients with RRMS and HCs (SMD = -0.33, 95% CI -0.67-0.01, p =.026). Age- and sex-based subgroup analysis demonstrated that younger patients (<40 years) in the PUT, GP, and CN groups and larger male populations (>25%) in the PUT and GP groups had more significant χ. Interestingly, thalamic QSM values were found to decrease in RRMS patients over 40 years of age and in higher male populations. Sex-based subgroup analysis indicated higher iron levels in the PUT and GP of RRMS patients regardless of sex. QSM values were higher in certain brain regions (PUT, GP, and CN) during the early stages (disease duration <9.6 years) of RRMS, but lower in the thalamus during the later stages (disease duration >9.6 years) than HCs. QSM may serve as a biomarker for understanding χ value alterations such as iron dysregulation and its contribution to neurodegeneration in RRMS, especially in the basal ganglia nuclei including PUT, GP, and CN.

Dancing with disorder: chorea – an unusual and neglected manifestation of antiphospholipid syndrome

ObjectivesChorea, characterised by involuntary, irregular movements, is a rare neurological manifestation of antiphospholipid syndrome (APS). The specific clinical features remain unclear. This study aimed to summarise the available evidence on...