Search Results (38)

The quality of life (QoL) perception has been studied in neurological diseases; however, there is limited information linking brain morphological characteristics, QoL, and cognition. Human behavior and perception are associated with specific brain areas that interact through diffuse electrochemical networking. We used magnetic resonance imaging (MRI) to analyze the brain region volume (BRV) correlation with the scores of Rand’s 36-item Short Form Survey (SF-36) and cognitive domains (memory and dementia status). We analyzed data from 420 adult participants in the Maracaibo Aging Study (MAS). Principal component analysis with oblimin axis rotation was used to gather redundant information from brain parcels and SF-36 domains. Canonical correlation was used to analyze the relationships between SF-36 domains and BRV (adjusted for intracranial cavity), as well as sex, age, education, obesity, and hypertension. The average age (±SD) of subjects was 56 ± 11.5 years; 71% were female; 39% were obese; 12% had diabetes, 52% hypertension, and 7% dementia. No sex-related differences were found in memory and orientation scores, but women had lower QoL scores. The 1st and 2nd canonical correlation roots support the association of SF-36 domains (except social functioning and role emotional) and total brain volume, frontal lobe volume, frontal pole, lateral orbital lobe, cerebellar, and entorhinal areas. Other variables, including age, dementia, memory score, and systolic blood pressure, had a significant influence. The results of this study demonstrate significant correlations between BRV and SF-36 components, adjusted for covariates. The frontal lobe and insula were associated with the mental health component; the lateral-orbital frontal lobe and entorhinal area were correlated with the physical component. Full article

Introduction: Neurodegenerative diseases like progressive supranuclear palsy (PSP) present challenges concerning their diagnosis. Neuroimaging using magnetic resonance (MRI) may add diagnostic value. However, modern techniques such as volumetric assessment using Voxel-Based Morphometry (VBM), although proven to be more accurate and superior compared to MRI, have not gained popularity among scientists in the investigation of neurological disorders due to their higher cost and time-consuming applications. Conventional brain MRI methods may present a quick, practical, and easy-to-use imaging rating tool for the differential diagnosis of PSP. The purpose of this study is to evaluate a string of existing visual MRI rating scales and signs regarding their impact for the diagnosis of PSP. Materials and Methods: The population study consisted of 30 patients suffering from PSP and 72 healthy controls. Each study participant underwent a brain MRI, which was subsequently examined by two independent researchers in a double-blinded fashion. Fifteen visual rating scales and signs were evaluated, including pontine atrophy, cerebellar atrophy, midbrain atrophy, aqueduct of Sylvius enlargement, cerebellar peduncle hyperintensities, enlargement of the fourth ventricle (100% sensitivity and 71% specificity) and left temporal lobe atrophy (97% sensitivity and 78% specificity). Conclusions: Enlargement of the Sylvius aqueduct, enlargement of the fourth ventricle and atrophy of both temporal lobes together with the presence of morning glory and hummingbird signs can be easily and quickly distinguished and identified by an experienced radiologist without involving any complex analysis, making them useful tools for PSP diagnosis. MRI visual scale measurements could be added to the diagnostic criteria of PSP and may serve as an alternative to highly technical and more sophisticated quantification methods. Full article

Glioblastoma in patients affected by NF1 germline mutation (NF1-associated GBM) represents a unique heterogeneous clinical and pathological entity. We have reviewed the few cases reported in the literature and they seem to have a better response to standard therapy and overall survival than GBM in the non-NF1 population. We present two cases of long-survival NF1 patients with GBM. Case 1 was a 38-year-old woman with cerebellar GBM who underwent surgical asportation and the Stupp protocol many times with an overall survival of 117 months. Case 2 was a 47-year-old woman with GBM in the eloquent area of the right frontal lobe; she underwent surgical asportation and the Stupp protocol with an overall survival of 25 months. The data analysis demonstrates that NF1-associated GBM patients could be considered long-term survivors. Full article

The cerebellum is involved in pain processing and, therefore, an important target for non-invasive brain stimulation (NIBS) for analgesia. When targeting a brain region for NIBS, it can be difficult to ensure activation of only target regions. Optimal Montages for cerebellar stimulation for pain modulation have not been established. This paper systematically examines cerebellar NIBS Montages by comparing simulated current flow models for targeted conventional cerebellar tDCS and focused high-definition 4 × 1 HD-tDCS, to examine the most effective Montage for targeting only the lobes of the cerebellum. The objective was to explore if slight variations in electrode placement and voltage could be producing confounding activations of other brain regions as shown by the Soterix^® current modelling software (Ver. 2019). A left deltoid anode for right cerebellar lobe sponge (3 cm lateral to inion) produces the best targeting with conventional tDCS. For high-definition tDCS (HD-tDCS) a 4 × 1 array based on a 93-electrode EEG map, with the central electrode at PO10, and the array at O2, P8, Ex2, and Ex6, provided focal stimulation. Optimisation of NIBS must include an evaluation of electrode Montages and current flow modelling to determine which structures and pathways will be impacted by the neurostimulation. This approach is essential for future cerebellar NIBS experimental design and will facilitate comparative analysis across different protocols and optimise understanding of the role of the cerebellum in pain processing. Full article

Background and Objective: Brain morphometry is shaped by a complex interplay of genetic and environmental factors, including physiological and neuropsychiatric conditions. These influences can vary across distinct brain regions, yet the precise contributions of genetics and environment to regional variation in healthy brains remain poorly understood. This study examines the heritability of specific brain structures to provide deeper insights into their development. Materials and Methods: We studied 118 healthy adult twins from the Hungarian Twin Registry using T1-weighted magnetic resonance imaging (T1W MRI) and the volBrain pipeline for structural measurements. Results: In all regions, monozygotic (MZ) twins showed a higher resemblance than dizygotic (DZ) twins in total brainstem and cerebellar volumes, with significant heritability (A: 90.5–92.6%) and minimal unique environmental effects (E: <1%). For supratentorial regions, regarding the total gray matter volume, all regions exhibited high heritability (A: 74.5–92.4%) and minimal environmental influence (E: <1.5%). In average cortical thickness analysis, the frontal lobe, temporal lobe, and pre-central gyrus were influenced by shared and unique environmental factors (C: 63–66.5%; E: 33.4–37%), whereas genetics were more prominent in the parietal lobe, occipital lobe, and post-central gyrus (A: 67.7–85%; E: 15–32.3%). Conclusions: Genetics strongly influence cortical gray matter volume in supratentorial regions (both total and regional), as well as the total brainstem volume and the total and cortical gray matter volumes of the cerebellum in infratentorial regions. This genetic influence extends to the average cortical thickness of the parietal lobe, post-central gyrus, and occipital lobe, while the frontal lobe, temporal lobe, and pre-central gyrus are more affected by environmental factors. These findings emphasize the importance of understanding region-specific genetic and environmental contributions to brain structure, which could guide personalized therapeutic and preventive strategies for neurological conditions. Full article

We describe the case of a 63-year-old man with pontocerebellar hypoplasia without the claustrum (CL). The patient had a history of cerebral palsy, intelligent disability, cerebellar atrophy, and seizures since birth. At age 61, brain computed tomography (CT) revealed significant cerebellar and brainstem atrophy. At age 63, he was admitted to our hospital for aspiration pneumonia. Although he was treated with medications, including antibiotics, he died one month after admission. The autopsy revealed a total brain weight of 815 g, with the small-sized frontal lobe, cerebellum, and pons. The cross-section of the fourth ventricle had a slit-like appearance, rather than the typical diamond shape. In addition, bilateral CLs were not observed. Apart from CL, no other missing brain tissue or cells could be identified. Microscopic examinations disclosed neurofibrillary tangles in the hippocampus but not in the cortex; however, neither senile plaques nor Lewy bodies were detected. No acquired lesions, including cerebral infarction, hemorrhage, or necrosis, were noted. We pathologically diagnosed the patient with pontocerebellar hypoplasia without CL. As there have been no prior reports of pontocerebellar hypoplasia lacking CL in adults, this case may represent a new subtype. Congenital CL deficiency is likely associated with abnormalities in brain development. CL may play a role in seizure activity, and the loss of bilateral CLs does not necessarily result in immediate death. Further studies are needed to clarify the functions of CL. Full article

This study aims to understand the cognitive profiles of cerebellar infarction patients and compare them to those with supratentorial infarctions, particularly frontal infarctions. This current study also aims to find reliable assessment tools for detecting cognitive impairment in cerebellar infarction patients. A total of fifty cerebellar infarction patients, sixty supratentorial infarction patients, and thirty-nine healthy controls were recruited. The Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment (MoCA), Addenbrooke’s Cognitive Examination III (ACE-III), and Cerebellar Cognitive Affective Syndrome scale (CCAS-s) were used to assess global cognitive function. An extensive neuropsychological assessment battery was also tested to evaluate the characteristics of each cognitive domain. To assess the features of cognitive function, a comprehensive neuropsychological evaluation tool was also utilized. The cerebral infarction patients demonstrated cognitive impairment comparable to those with frontal infarcts, notably characterized by disturbance in attention and executive function. However, the degree of cognitive impairment was comparatively milder in cerebellar infarction patients. Furthermore, the patients in the cerebellar group had worse scores in the ACE-III and CCAS-s compared to healthy controls. The two assessments also demonstrated a significant area under the curve values, indicating their effectiveness in distinguishing cognitive impairment in cerebellar infarctions. In conclusion, cognitive impairment in a cerebellar infarction resembles frontal lobe dysfunction but is generally mild. It can be accurately assessed using the ACE-III and CCAS-s scales. Full article

Age-related macular degeneration (AMD) has recently been linked to cognitive impairment. We hypothesized that AMD modifies the brain aging trajectory, and we conducted a longitudinal diffusion MRI study on 40 participants (20 with AMD and 20 controls) to reveal the location, extent, and dynamics of AMD-related brain changes. Voxel-based analyses at the first visit identified reduced volume in AMD participants in the cuneate gyrus, associated with vision, and the temporal and bilateral cingulate gyrus, linked to higher cognition and memory. The second visit occurred 2 years after the first and revealed that AMD participants had reduced cingulate and superior frontal gyrus volumes, as well as lower fractional anisotropy (FA) for the bilateral occipital lobe, including the visual and the superior frontal cortex. We detected faster rates of volume and FA reduction in AMD participants in the left temporal cortex. We identified inter-lingual and lingual–cerebellar connections as important differentiators in AMD participants. Bundle analyses revealed that the lingual gyrus had a lower streamline length in the AMD participants at the first visit, indicating a connection between retinal and brain health. FA differences in select inter-lingual and lingual cerebellar bundles at the second visit showed downstream effects of vision loss. Our analyses revealed widespread changes in AMD participants, beyond brain networks directly involved in vision processing. Full article

Recent studies have discovered that functional connections are impaired in patients with Parkinson’s disease (PD) accompanied by hallucinations (PD-H), even at the preclinical stage. The cerebellum has been implicated in playing a role in cognitive processes. However, the functional connectivity (FC) between the cognitive sub-regions of the cerebellum in PD patients with hallucinations needs further clarification. Resting-state functional magnetic resonance imaging (rs-fMRI) data were collected from three groups (17 PD-H patients, 13 patients with Parkinson’s disease not accompanied by hallucinations (PD-NH), and 26 healthy controls (HC)). The data were collected in this study to investigate the impact of cerebellar FC changes on cognitive performance. Additionally, we define cerebellar FC as a training feature for classifying all subjects using Support Vector Machines (SVMs). We found that in the PD-H patients, there was an increase in FC within the left side of the precuneus (PCUN) compared to the HC. Additionally, there was an increase in FC within the bilateral opercular part of the inferior frontal gyrus (IFGoprec) and triangular part of the inferior frontal gyrus (IFCtriang), as well as the left side of the postcentral gyrus (PoCG), inferior parietal lobe (IPL), and PCUN compared to the PD-NH patients. In the machine learning training results, cerebellar FC has also been proven to be an effective biomarker feature, achieving a recognition rate of over 90% for PD-H. These findings indicate that the cortico-cerebellar FC in PD-H and PD-NH patients was significantly disrupted, with different patterns of distribution. The proposed pipeline offers a promising, low-cost alternative for diagnosing preclinical PD-H and may also be beneficial for other degenerative brain disorders. Full article

Cerebellar transcranial alternating current stimulation (tACS) is an emerging non-invasive technique that induces electric fields to modulate cerebellar function. Although the effect of cortical tACS seems to be state-dependent, the impact of concurrent motor activation and the duration of stimulation on the effects of cerebellar tACS has not yet been examined. In our study, 20 healthy subjects received neuronavigated 50 Hz cerebellar tACS for 40 s or 20 min, each during performance using a motor sequence learning task (MSL) and at rest. We measured the motor evoked potential (MEP) before and at two time points after tACS application to assess corticospinal excitability. Additionally, we investigated the online effect of tACS on MSL. Individual electric field simulations were computed to evaluate the distribution of electric fields, showing a focal electric field in the right cerebellar hemisphere with the highest intensities in lobe VIIb, VIII and IX. Corticospinal excitability was only increased after tACS was applied for 40 s or 20 min at rest, and motor activation during tACS (MSL) cancelled this effect. In addition, performance was better (shorter reaction times) for the learned sequences after 20 min of tACS, indicating more pronounced learning under 20 min of tACS compared to tACS applied only in the first 40 s. Full article

Transcranial magnetic stimulation is a widely used brain intervention technique in clinical settings. In recent years, the role of the cerebellum in learning and memory has become one of the hotspots in the field of cognitive neuroscience. In this study, we recruited 36 healthy college or graduate students as subjects and divided them into groups, with 10 to 14 subjects in each group. We performed 5 Hz and 20 Hz repeated transcranial magnetic stimulation and sham stimulation on the Crus II subregion of the cerebellum in different groups, then let them complete the 2-back working memory task before and after the stimulation. We simultaneously recorded the electroencephalogram in the experiment and analyzed the data. We found that after repeated transcranial magnetic stimulation of the cerebellum at 5 Hz and 20 Hz, the N170 and P300 event-related potential components in the prefrontal cortex showed significant differences compared to those in the sham stimulation group. Using phase-locked values to construct brain networks and conduct further analysis, we discovered that stimulation frequencies of 5 Hz and 20 Hz had significant effects on the local and global efficiency of brain networks in comparison to the sham stimulation group. The results showed that repeated transcranial magnetic stimulation on cerebellar targets can effectively affect the subjects’ working memory tasks. Repeated transcranial magnetic stimulation at 5 Hz and 20 Hz could enhance the excitatory responses of the frontal lobes. After stimulation at 5 Hz and 20 Hz, the efficiency of the brain network significantly improved. Full article

Limited comparative data exist on the molecular spectrum of amyloid-beta (Aβ) and tau deposition in individuals with Down syndrome (DS) and sporadic Alzheimer’s disease (sAD). We assessed Aβ and tau deposition severity in the temporal lobe and cerebellum of ten DS and ten sAD cases. Immunohistochemistry was performed using antibodies against eight different Aβ epitopes (6F/3D, Aβ₃₈, Aβ₃₉, Aβ₄₀, Aβ₄₂, Aβ₄₃, pyroglutamate Aβ at third glutamic acid (Aβ_Np3E), phosphorylated- (p-)Aβ at 8th serine (Aβ_pSer8)), and six different pathological tau epitopes (p-Ser202/Thr205, p-Thr231, p-Ser396, Alz50, MC1, GT38). Findings were evaluated semi-quantitatively and quantitatively using digital pathology. DS cases had significantly higher neocortical parenchymal deposition (Aβ₃₈, Aβ₄₂, and Aβ_pSer8), and cerebellar parenchymal deposition (Aβ₄₀, Aβ₄₂, Aβ_Np3E, and Aβ_pSer8) than sAD cases. Furthermore, DS cases had a significantly larger mean plaque size (6F/3D, Aβ₄₂, Aβ_Np3E) in the temporal lobe, and significantly greater deposition of cerebral and cerebellar Aβ₄₂ than sAD cases in the quantitative analysis. Western blotting corroborated these findings. Regarding tau pathology, DS cases had significantly more severe cerebral tau deposition than sAD cases, especially in the white matter (p-Ser202/Thr205, p-Thr231, Alz50, and MC1). Greater total tau deposition in the white matter (p-Ser202/Thr205, p-Thr231, and Alz50) of DS cases was confirmed by quantitative analysis. Our data suggest that the Aβ and tau molecular signatures in DS are distinct from those in sAD. Full article

Brain activity is time varying and dynamic, even in the resting state. However, little attention has been paid to the dynamic alterations in regional brain activity in Parkinson’s disease (PD). We aimed to test for differences in dynamic regional homogeneity (dReHo) between PD patients and healthy controls (HCs) and to further investigate the pathophysiological meaning of this altered dReHo in PD. We included 57 PD patients and 31 HCs with rs-fMRI scans and neuropsychological examinations. Then, ReHo and dReHo were calculated for all subjects. We compared ReHo and dReHo between PD patients and HCs and then analyzed the associations between altered dReHo variability and clinical/neuropsychological measurements. Support vector machines (SVMs) were also used to assist in differentiating PD patients from HCs using the classification values of dReHo. The results showed that PD patients had increased ReHo in the bilateral medial temporal lobe and decreased ReHo in the right posterior cerebellar lobe, right precentral gyrus, and supplementary motor area, compared with controls. The coefficient of variation (CV) of dReHo was considerably higher in the precuneus in PD patients compared with HCs, and the CV of dReHo in the precuneus was found to be highly associated with HAMD, HAMA, and NMSQ scores. Multiple linear regression analysis controlling for demographic, clinical, and neuropsychiatric variables confirmed the association between altered dReHo and HAMD. Using the leave-one-out cross validation procedure, 98% (p < 0.001) of individuals were properly identified using the SVM classifier. These results provide new evidence for the aberrant resting-state brain activity in the precuneus of PD patients and its role in neuropsychiatric symptoms in PD. Full article

The cerebellum is an encephalic region classically known for its central role in the control of movement, although recent research has revealed its involvement in other cognitive and affective tasks. Several different pathologies are known to affect this structure, causing a wide range of behavioral and gait impairments. Intriguingly, although the neurodegenerative factors affect all Purkinje cells of the cerebellum uniformly, certain neurodegeneration patterns can be distinguished, in which some Purkinje cells persist longer than other cell types. Specifically, there is a cerebellar region, lobe X, which is more resistant to different types of neurodegeneration, regardless of the injury. Degeneration patterns of the cerebellum have been described in several models, but this review goes further, as it aims at describing a phenomenon not so described: the resistance of the lobe X to neurodegeneration. For this purpose, the main models of cerebellar degeneration will be reviewed and a common origin for the lobe X resistance will be sought. Full article

Endometriosis is a systemic medical condition characterized by endometrial tissue that is abnormally implanted in extrauterine sites, including the central nervous system. In this article, we reported the case of a patient with presumed cerebral endometriosis who was diagnosed with bipolar disorder and panic disorder and systematically reviewed the literature for previously reported neuropsychiatric symptoms in patients with cerebral and cerebellar endometriosis. The PubMed, Scopus, and Web of Science bibliographic databases were searched according to the PRISMA guidelines. Seven previous case reports were found and described. While neurological disturbances dominated the clinical picture in the cases retrieved from the literature, our patient represented the first case to show both neurological and psychiatric manifestations. Atypical features of bipolar disorder including chronic mood instability, mixed episodes, and excitatory interepisodic symptoms were highlighted. During the neuropsychological evaluation, a dysexecutive profile consistent with frontal lobe pathology was evidenced. We hypothesized that the course and features of the illness were largely influenced by the presence of documented brain lesions compatible with endometrial implants, especially in the frontal region. Accordingly, patients with endometriosis who exhibit neurological as well as mental symptoms should be investigated for cerebral lesions. Full article