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1.
Math Biosci Eng ; 21(4): 5803-5825, 2024 Apr 28.
Artigo em Inglês | MEDLINE | ID: mdl-38872559

RESUMO

Attention deficit hyperactivity disorder (ADHD) is a common childhood developmental disorder. In recent years, pattern recognition methods have been increasingly applied to neuroimaging studies of ADHD. However, these methods often suffer from limited accuracy and interpretability, impeding their contribution to the identification of ADHD-related biomarkers. To address these limitations, we applied the amplitude of low-frequency fluctuation (ALFF) results for the limbic system and cerebellar network as input data and conducted a binary hypothesis testing framework for ADHD biomarker detection. Our study on the ADHD-200 dataset at multiple sites resulted in an average classification accuracy of 93%, indicating strong discriminative power of the input brain regions between the ADHD and control groups. Moreover, our approach identified critical brain regions, including the thalamus, hippocampal gyrus, and cerebellum Crus 2, as biomarkers. Overall, this investigation uncovered potential ADHD biomarkers in the limbic system and cerebellar network through the use of ALFF realizing highly credible results, which can provide new insights for ADHD diagnosis and treatment.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Biomarcadores , Cerebelo , Sistema Límbico , Imageamento por Ressonância Magnética , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico por imagem , Transtorno do Deficit de Atenção com Hiperatividade/metabolismo , Humanos , Cerebelo/diagnóstico por imagem , Cerebelo/metabolismo , Sistema Límbico/diagnóstico por imagem , Sistema Límbico/fisiopatologia , Sistema Límbico/metabolismo , Biomarcadores/metabolismo , Criança , Masculino , Feminino , Imageamento por Ressonância Magnética/métodos , Mapeamento Encefálico/métodos , Neuroimagem/métodos , Adolescente , Algoritmos , Hipocampo/diagnóstico por imagem , Hipocampo/metabolismo
2.
BMJ Case Rep ; 17(6)2024 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-38834308

RESUMO

Ehlers-Danlos syndrome is a group of connective tissue disorders with 14 subtypes, involving joint hyperlaxity, tissue fragility, hypertensive skin and other systemic organs with an incidence of 1 in 1 000 000 worldwide. We report a middle childhood female born of second degree consanguineous marriage with limping gait with muscle weakness, with normal development and IQ. Examination revealed microcornea, distal joint laxity of fingers and wrist, hypotonia and broad-based limping gait. Fracture dislocation right hip was managed by fixation. With the atypical neuroimaging finding of cerebellar vermis hypoplasia, exome sequencing was ordered and confirmed as Ehlers-Danlos syndrome (musculocontractural type-1). Hence, genetic counselling was done and prognosis of the child was explained.


Assuntos
Cerebelo , Síndrome de Ehlers-Danlos , Feminino , Humanos , Cerebelo/anormalidades , Cerebelo/diagnóstico por imagem , Consanguinidade , Deficiências do Desenvolvimento , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/diagnóstico , Instabilidade Articular/diagnóstico por imagem , Malformações do Sistema Nervoso/complicações , Pré-Escolar
3.
CNS Neurosci Ther ; 30(6): e14786, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38828694

RESUMO

PURPOSE: To investigate dynamic functional connectivity (dFC) within the cerebellar-whole brain network and dynamic topological properties of the cerebellar network in obstructive sleep apnea (OSA) patients. METHODS: Sixty male patients and 60 male healthy controls were included. The sliding window method examined the fluctuations in cerebellum-whole brain dFC and connection strength in OSA. Furthermore, graph theory metrics evaluated the dynamic topological properties of the cerebellar network. Additionally, hidden Markov modeling validated the robustness of the dFC. The correlations between the abovementioned measures and clinical assessments were assessed. RESULTS: Two dynamic network states were characterized. State 2 exhibited a heightened frequency, longer fractional occupancy, and greater mean dwell time in OSA. The cerebellar networks and cerebrocerebellar dFC alterations were mainly located in the default mode network, frontoparietal network, somatomotor network, right cerebellar CrusI/II, and other networks. Global properties indicated aberrant cerebellar topology in OSA. Dynamic properties were correlated with clinical indicators primarily on emotion, cognition, and sleep. CONCLUSION: Abnormal dFC in male OSA may indicate an imbalance between the integration and segregation of brain networks, concurrent with global topological alterations. Abnormal default mode network interactions with high-order and low-level cognitive networks, disrupting their coordination, may impair the regulation of cognitive, emotional, and sleep functions in OSA.


Assuntos
Cerebelo , Rede Nervosa , Apneia Obstrutiva do Sono , Humanos , Masculino , Apneia Obstrutiva do Sono/fisiopatologia , Apneia Obstrutiva do Sono/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Cerebelo/fisiopatologia , Pessoa de Meia-Idade , Adulto , Rede Nervosa/diagnóstico por imagem , Rede Nervosa/fisiopatologia , Imageamento por Ressonância Magnética , Conectoma , Vias Neurais/fisiopatologia , Vias Neurais/diagnóstico por imagem , Rede de Modo Padrão/fisiopatologia , Rede de Modo Padrão/diagnóstico por imagem
4.
BMC Vet Res ; 20(1): 263, 2024 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-38890680

RESUMO

BACKGROUND: Neurological inherited disorders are rare in domestic animals. Cerebellar cortical degeneration remains amongst the most common of these disorders. The condition is defined as the premature loss of fully differentiated cerebellar components due to genetic or metabolic defects. It has been studied in dogs and cats, and various genetic defects and diagnostic tests (including magnetic resonance imaging (MRI)) have been refined in these species. Cases in cats remain rare and mostly individual, and few diagnostic criteria, other than post-mortem exam, have been evaluated in reports with multiple cases. Here, we report three feline cases of cerebellar cortical degeneration with detailed clinical, diagnostic imaging and post-mortem findings. CASE PRESENTATION: The three cases were directly (siblings, case #1 and #2) or indirectly related (same farm, case #3) and showed early-onset of the disease, with clinical signs including cerebellar ataxia and tremors. Brain MRI was highly suggestive of cerebellar cortical degeneration on all three cases. The relative cerebrospinal fluid (CSF) space, relative cerebellum size, brainstem: cerebellum area ratio, and cerebellum: total brain area ratio, were measured and compared to a control group of cats and reference cut-offs for dogs in the literature. For the relative cerebellum size and cerebellum: total brain area ratio, all affected cases had a lower value than the control group. For the relative CSF space and brainstem: cerebellum area ratio, the more affected cases (#2 and #3) had higher values than the control group, while the least affected case (#3) had values within the ranges of the control group, but a progression was visible over time. Post-mortem examination confirmed the diagnosis of cerebellar cortical degeneration, with marked to complete loss of Purkinje cells and associated granular layer depletion and proliferation of Bergmann glia. One case also had Wallerian-like degeneration in the spinal cord, suggestive of spinocerebellar degeneration. CONCLUSION: Our report further supports a potential genetic component for the disease in cats. For the MRI examination, the relative cerebellum size and cerebellum: total brain area ratio seem promising, but further studies are needed to establish specific feline cut-offs. Post-mortem evaluation of the cerebellum remains the gold standard for the final diagnosis.


Assuntos
Doenças do Gato , Imageamento por Ressonância Magnética , Animais , Gatos , Doenças do Gato/patologia , Doenças do Gato/diagnóstico por imagem , Masculino , Imageamento por Ressonância Magnética/veterinária , Feminino , Córtex Cerebelar/patologia , Córtex Cerebelar/diagnóstico por imagem , Cerebelo/patologia , Cerebelo/diagnóstico por imagem
5.
Neurology ; 103(2): e209623, 2024 Jul 23.
Artigo em Inglês | MEDLINE | ID: mdl-38900989

RESUMO

BACKGROUND AND OBJECTIVES: Amyotrophic lateral sclerosis (ALS) is predominantly associated with motor cortex, corticospinal tract (CST), brainstem, and spinal cord degeneration, and cerebellar involvement is much less well characterized. However, some of the cardinal clinical features of ALS, such as dysarthria, dysphagia, gait impairment, falls, and impaired dexterity, are believed to be exacerbated by coexisting cerebellar pathology. Cerebellar pathology may also contribute to cognitive, behavioral, and pseudobulbar manifestations. Our objective was to systematically assess both intracerebellar pathology and cerebrocerebellar connectivity alterations in a genetically stratified cohort of ALS. METHODS: A prospective, multimodal neuroimaging study was conducted to evaluate the longitudinal evolution of intracerebellar pathology and cerebrocerebellar connectivity, using structural and functional measures. RESULTS: A total of 113 healthy controls and 212 genetically stratified individuals with ALS were included: (1) C9orf72 hexanucleotide carriers ("C9POS"), (2) sporadic patients who tested negative for ALS-associated genetic variants, and (3) intermediate-length CAG trinucleotide carriers in ATXN2 ("ATXN2"). Flocculonodular lobule (padj = 0.014, 95% CI -5.06e-5 to -3.98e-6) and crura (padj = 0.031, 95% CI -1.63e-3 to -5.55e-5) volume reductions were detected at baseline in sporadic patients. Cerebellofrontal and cerebelloparietal structural connectivity impairment was observed in both C9POS and sporadic patients at baseline, and both projections deteriorated further over time in sporadic patients (padj = 0.003, t(249) = 3.04 and padj = 0.05, t(249) = 1.93). Functional cerebelloparietal uncoupling was evident in sporadic patients at baseline (padj = 0.004, 95% CI -0.19 to -0.03). ATXN2 patients exhibited decreased cerebello-occipital functional connectivity at baseline (padj = 0.004, 95% CI -0.63 to -0.06), progressive cerebellotemporal functional disconnection (padj = 0.025, t(199) = -2.26), and progressive flocculonodular lobule degeneration (padj = 0.017, t(249) = -2.24). C9POS patients showed progressive ventral dentate atrophy (padj = 0.007, t(249) = -2.75). The CSTs (padj < 0.001, 95% CI 4.89e-5 to 1.14e-4) and transcallosal interhemispheric fibers (padj < 0.001, 95% CI 5.21e-5 to 1.31e-4) were affected at baseline in C9POS and exhibited rapid degeneration over the 4 time points. The rate of decline in CST and corpus callosum integrity was faster than the rate of cerebrocerebellar disconnection (padj = 0.001, t(190) = 6.93). DISCUSSION: ALS is associated with accruing intracerebellar disease burden as well as progressive corticocerebellar uncoupling. Contrary to previous suggestions, we have not detected evidence of compensatory structural or functional changes in response to supratentorial degeneration. The contribution of cerebellar disease burden to dysarthria, dysphagia, gait impairment, pseudobulbar affect, and cognitive deficits should be carefully considered in clinical assessments, monitoring, and multidisciplinary interventions.


Assuntos
Esclerose Lateral Amiotrófica , Proteína C9orf72 , Cerebelo , Humanos , Esclerose Lateral Amiotrófica/genética , Esclerose Lateral Amiotrófica/diagnóstico por imagem , Esclerose Lateral Amiotrófica/patologia , Esclerose Lateral Amiotrófica/fisiopatologia , Masculino , Feminino , Pessoa de Meia-Idade , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Idoso , Proteína C9orf72/genética , Estudos Prospectivos , Ataxina-2/genética , Imageamento por Ressonância Magnética , Progressão da Doença , Córtex Cerebral/diagnóstico por imagem , Córtex Cerebral/patologia , Córtex Cerebral/fisiopatologia , Adulto , Estudos Longitudinais
6.
Sci Rep ; 14(1): 13030, 2024 06 06.
Artigo em Inglês | MEDLINE | ID: mdl-38844772

RESUMO

Digital media (DM) takes an increasingly large part of children's time, yet the long-term effect on brain development remains unclear. We investigated how individual effects of DM use (i.e., using social media, playing video games, or watching television/videos) on the development of the cortex (i.e., global cortical surface area), striatum, and cerebellum in children over 4 years, accounting for both socioeconomic status and genetic predisposition. We used a prospective, multicentre, longitudinal cohort of children from the Adolescent Brain and Cognitive Development Study, aged 9.9 years when entering the study, and who were followed for 4 years. Annually, children reported their DM usage through the Youth Screen Time Survey and underwent brain magnetic resonance imaging scans every 2 years. Quadratic-mixed effect modelling was used to investigate the relationship between individual DM usage and brain development. We found that individual DM usage did not alter the development of cortex or striatum volumes. However, high social media usage was associated with a statistically significant change in the developmental trajectory of cerebellum volumes, and the accumulated effect of high-vs-low social media users on cerebellum volumes over 4 years was only ß = - 0.03, which was considered insignificant. Nevertheless, the developmental trend for heavy social media users was accelerated at later time points. This calls for further studies and longer follow-ups on the impact of social media on brain development.


Assuntos
Encéfalo , Imageamento por Ressonância Magnética , Jogos de Vídeo , Humanos , Criança , Masculino , Feminino , Encéfalo/crescimento & desenvolvimento , Encéfalo/diagnóstico por imagem , Estudos Longitudinais , Jogos de Vídeo/efeitos adversos , Mídias Sociais , Estudos Prospectivos , Desenvolvimento Infantil , Adolescente , Cerebelo/crescimento & desenvolvimento , Cerebelo/diagnóstico por imagem
7.
Cereb Cortex ; 34(6)2024 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-38850215

RESUMO

Spinocerebellar ataxia type 3 (SCA3) is primarily characterized by progressive cerebellar degeneration, including gray matter atrophy and disrupted anatomical and functional connectivity. The alterations of cerebellar white matter structural network in SCA3 and the underlying neurobiological mechanism remain unknown. Using a cohort of 20 patients with SCA3 and 20 healthy controls, we constructed cerebellar structural networks from diffusion MRI and investigated alterations of topological organization. Then, we mapped the alterations with transcriptome data from the Allen Human Brain Atlas to identify possible biological mechanisms for regional selective vulnerability to white matter damage. Compared with healthy controls, SCA3 patients exhibited reduced global and nodal efficiency, along with a widespread decrease in edge strength, particularly affecting edges connected to hub regions. The strength of inter-module connections was lower in SCA3 group and negatively correlated with the Scale for the Assessment and Rating of Ataxia score, International Cooperative Ataxia Rating Scale score, and cytosine-adenine-guanine repeat number. Moreover, the transcriptome-connectome association study identified the expression of genes involved in synapse-related and metabolic biological processes. These findings suggest a mechanism of white matter vulnerability and a potential image biomarker for the disease severity, providing insights into neurodegeneration and pathogenesis in this disease.


Assuntos
Cerebelo , Conectoma , Doença de Machado-Joseph , Transcriptoma , Humanos , Masculino , Feminino , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Pessoa de Meia-Idade , Adulto , Doença de Machado-Joseph/genética , Doença de Machado-Joseph/diagnóstico por imagem , Doença de Machado-Joseph/patologia , Substância Branca/diagnóstico por imagem , Substância Branca/patologia , Imagem de Difusão por Ressonância Magnética
8.
Dev Cogn Neurosci ; 67: 101385, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38713999

RESUMO

INTRODUCTION: The human cerebellum emerges as a posterior brain structure integrating neural networks for sensorimotor, cognitive, and emotional processing across the lifespan. Developmental studies of the cerebellar anatomy and function are scant. We examine age-dependent MRI morphometry of the anterior cerebellar vermis, lobules I-V and posterior neocortical lobules VI-VII and their relationship to sensorimotor and cognitive functions. METHODS: Typically developing children (TDC; n=38; age 9-15) and healthy adults (HAC; n=31; 18-40) participated in high-resolution MRI. Rigorous anatomically informed morphometry of the vermis lobules I-V and VI-VII and total brain volume (TBV) employed manual segmentation computer-assisted FreeSurfer Image Analysis Program [http://surfer.nmr.mgh.harvard.edu]. The neuropsychological scores (WASI-II) were normalized and related to volumes of anterior, posterior vermis, and TBV. RESULTS: TBVs were age independent. Volumes of I-V and VI-VII were significantly reduced in TDC. The ratio of VI-VII to I-V (∼60%) was stable across age-groups; I-V correlated with visual-spatial-motor skills; VI-VII with verbal, visual-abstract and FSIQ. CONCLUSIONS: In TDC neither anterior I-V nor posterior VI-VII vermis attained adult volumes. The "inverted U" developmental trajectory of gray matter peaking in adolescence does not explain this finding. The hypothesis of protracted development of oligodendrocyte/myelination is suggested as a contributor to TDC's lower cerebellar vermis volumes.


Assuntos
Vermis Cerebelar , Cognição , Imageamento por Ressonância Magnética , Humanos , Adolescente , Criança , Feminino , Masculino , Imageamento por Ressonância Magnética/métodos , Cognição/fisiologia , Adulto , Adulto Jovem , Vermis Cerebelar/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Cerebelo/anatomia & histologia
9.
Cereb Cortex ; 34(5)2024 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-38741271

RESUMO

This study investigates abnormalities in cerebellar-cerebral static and dynamic functional connectivity among patients with acute pontine infarction, examining the relationship between these connectivity changes and behavioral dysfunction. Resting-state functional magnetic resonance imaging was utilized to collect data from 45 patients within seven days post-pontine infarction and 34 normal controls. Seed-based static and dynamic functional connectivity analyses identified divergences in cerebellar-cerebral connectivity features between pontine infarction patients and normal controls. Correlations between abnormal functional connectivity features and behavioral scores were explored. Compared to normal controls, left pontine infarction patients exhibited significantly increased static functional connectivity within the executive, affective-limbic, and motor networks. Conversely, right pontine infarction patients demonstrated decreased static functional connectivity in the executive, affective-limbic, and default mode networks, alongside an increase in the executive and motor networks. Decreased temporal variability of dynamic functional connectivity was observed in the executive and default mode networks among left pontine infarction patients. Furthermore, abnormalities in static and dynamic functional connectivity within the executive network correlated with motor and working memory performance in patients. These findings suggest that alterations in cerebellar-cerebral static and dynamic functional connectivity could underpin the behavioral dysfunctions observed in acute pontine infarction patients.


Assuntos
Infartos do Tronco Encefálico , Cerebelo , Imageamento por Ressonância Magnética , Vias Neurais , Ponte , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Cerebelo/fisiopatologia , Cerebelo/diagnóstico por imagem , Vias Neurais/fisiopatologia , Vias Neurais/diagnóstico por imagem , Ponte/diagnóstico por imagem , Ponte/fisiopatologia , Infartos do Tronco Encefálico/fisiopatologia , Infartos do Tronco Encefálico/diagnóstico por imagem , Idoso , Adulto , Córtex Cerebral/fisiopatologia , Córtex Cerebral/diagnóstico por imagem , Rede Nervosa/fisiopatologia , Rede Nervosa/diagnóstico por imagem
10.
Commun Biol ; 7(1): 522, 2024 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-38702520

RESUMO

An organism's ability to accurately anticipate the sensations caused by its own actions is crucial for a wide range of behavioral, perceptual, and cognitive functions. Notably, the sensorimotor expectations produced when touching one's own body attenuate such sensations, making them feel weaker and less ticklish and rendering them easily distinguishable from potentially harmful touches of external origin. How the brain learns and keeps these action-related sensory expectations updated is unclear. Here we employ psychophysics and functional magnetic resonance imaging to pinpoint the behavioral and neural substrates of dynamic recalibration of expected temporal delays in self-touch. Our psychophysical results reveal that self-touches are less attenuated after systematic exposure to delayed self-generated touches, while responses in the contralateral somatosensory cortex that normally distinguish between delayed and nondelayed self-generated touches become indistinguishable. During the exposure, the ipsilateral anterior cerebellum shows increased activity, supporting its proposed role in recalibrating sensorimotor predictions. Moreover, responses in the cingulate areas gradually increase, suggesting that as delay adaptation progresses, the nondelayed self-touches trigger activity related to cognitive conflict. Together, our results show that sensorimotor predictions in the simplest act of touching one's own body are upheld by a sophisticated and flexible neural mechanism that maintains them accurate in time.


Assuntos
Cerebelo , Imageamento por Ressonância Magnética , Córtex Somatossensorial , Humanos , Córtex Somatossensorial/fisiologia , Masculino , Cerebelo/fisiologia , Cerebelo/diagnóstico por imagem , Feminino , Adulto , Adulto Jovem , Percepção do Tato/fisiologia , Tato/fisiologia
12.
Medicine (Baltimore) ; 103(21): e37605, 2024 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-38788012

RESUMO

RATIONALE: Subacute combined degeneration of the spinal cord is a degenerative disease of the central and peripheral nervous systems caused by vitamin B12 deficiency, mainly involving the spinal cord posterior, lateral, and peripheral nerves, but rarely involving the cerebellum. PATIENT CONCERNS: A 41-year-old woman presented with a 2-year history of walking unsteadily. Her hematologic examination revealed megaloblastic anemia and vitamin B12 deficiency. Electromyography showed multiple peripheral nerve damage (sensory fibers and motor fibers were involved). Imaging examination showed long T2 signal in the cervical, thoracic and lumbar spinal cord and cerebellum. Gastroscopy revealed autoimmune gastritis. DIAGNOSES: Subacute combined degeneration of the spinal cord. INTERVENTIONS: By supplementing with vitamin B12. OUTCOMES: The patient's symptoms of limb weakness, diet, and consciousness were improved, and the muscle strength of both lower limbs recovered to grade IV. LESSONS: The symptomatic people should seek medical treatment in time to avoid further deterioration of the disease. When esophagogastroduodenoscopy is performed as part of routine physical examination in asymptomatic people, it should be checked for the presence of autoimmune gastritis. Early diagnosis can prevent irreversible neuropathy.


Assuntos
Degeneração Combinada Subaguda , Humanos , Feminino , Adulto , Degeneração Combinada Subaguda/etiologia , Degeneração Combinada Subaguda/diagnóstico , Deficiência de Vitamina B 12/complicações , Deficiência de Vitamina B 12/diagnóstico , Gastrite/diagnóstico , Vitamina B 12/uso terapêutico , Vitamina B 12/administração & dosagem , Cerebelo/patologia , Cerebelo/diagnóstico por imagem , Imageamento por Ressonância Magnética
13.
Hum Brain Mapp ; 45(8): e26717, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38798116

RESUMO

Twin studies have found gross cerebellar volume to be highly heritable. However, whether fine-grained regional volumes within the cerebellum are similarly heritable is still being determined. Anatomical MRI scans from two independent datasets (QTIM: Queensland Twin IMaging, N = 798, mean age 22.1 years; QTAB: Queensland Twin Adolescent Brain, N = 396, mean age 11.3 years) were combined with an optimised and automated cerebellum parcellation algorithm to segment and measure 28 cerebellar regions. We show that the heritability of regional volumetric measures varies widely across the cerebellum ( h 2 $$ {h}^2 $$ 47%-91%). Additionally, the good to excellent test-retest reliability for a subsample of QTIM participants suggests that non-genetic variance in cerebellar volumes is due primarily to unique environmental influences rather than measurement error. We also show a consistent pattern of strong associations between the volumes of homologous left and right hemisphere regions. Associations were predominantly driven by genetic effects shared between lobules, with only sparse contributions from environmental effects. These findings are consistent with similar studies of the cerebrum and provide a first approximation of the upper bound of heritability detectable by genome-wide association studies.


Assuntos
Cerebelo , Imageamento por Ressonância Magnética , Humanos , Cerebelo/diagnóstico por imagem , Cerebelo/anatomia & histologia , Masculino , Adolescente , Feminino , Adulto Jovem , Criança , Adulto , Tamanho do Órgão , Gêmeos Monozigóticos
14.
Clin Imaging ; 111: 110171, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38759601

RESUMO

The shrimp sign is characterized by a well-defined lesion in the deep cerebellar white matter, with hyperintense signal on T2- and hypointense signal on T1-weighted imaging, abutting and outlining the dentate nucleus, unilaterally or bilaterally. This sign has high sensitivity and specificity for cerebellar progressive multifocal leukoencephalopathy (PML) within the correct clinical scenario. In this article, we present a case of cerebellar PML in a woman living with human immunodeficiency virus, who was not using antiretroviral therapy, and presented the shrimp sign on brain MRI.


Assuntos
Leucoencefalopatia Multifocal Progressiva , Imageamento por Ressonância Magnética , Humanos , Leucoencefalopatia Multifocal Progressiva/diagnóstico por imagem , Feminino , Imageamento por Ressonância Magnética/métodos , Pessoa de Meia-Idade , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Doenças Cerebelares/diagnóstico por imagem , Infecções por HIV/complicações
15.
Front Immunol ; 15: 1388667, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38799430

RESUMO

Cerebellar ataxia is an uncommon and atypical manifestation of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, often accompanied by seizures, psychiatric symptoms, and cognitive deficits. Previous cases of isolated brainstem-cerebellar symptoms in patients with anti-NMDAR encephalitis have not been documented. This report presents a case of anti-NMDAR encephalitis in which the patient exhibited cerebellar ataxia, nystagmus, diplopia, positive bilateral pathological signs, and hemiparesthesia with no other accompanying symptoms or signs. The presence of positive CSF anti-NMDAR antibodies further supports the diagnosis. Other autoantibodies were excluded through the use of cell-based assays. Immunotherapy was subsequently administered, leading to a gradual recovery of the patient.


Assuntos
Encefalite Antirreceptor de N-Metil-D-Aspartato , Autoanticorpos , Tronco Encefálico , Humanos , Encefalite Antirreceptor de N-Metil-D-Aspartato/diagnóstico , Tronco Encefálico/patologia , Autoanticorpos/imunologia , Autoanticorpos/líquido cefalorraquidiano , Autoanticorpos/sangue , Feminino , Ataxia Cerebelar/etiologia , Ataxia Cerebelar/diagnóstico , Ataxia Cerebelar/imunologia , Cerebelo/patologia , Cerebelo/diagnóstico por imagem , Receptores de N-Metil-D-Aspartato/imunologia , Adulto , Imunoterapia , Masculino , Imageamento por Ressonância Magnética
16.
Neuroimage ; 295: 120648, 2024 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-38761882

RESUMO

BACKGROUND: Cerebellar intermittent theta burst stimulation (iTBS) modulates the excitability of the cerebral cortex and may enhance attentional performance. To date, few studies have conducted iTBS on healthy subjects for one week and used electroencephalography (EEG) to investigate the effect of multiple stimulation sessions on resting-state functional brain networks and the daily stimulation effect on attentional performance. METHODS: 16 healthy subjects participated in a one-week experiment, receiving bilateral cerebellar iTBS or sham stimulation and engaging in multi-task attentional training. The primary measures were the one-week attentional performance and pre- and post-experiment resting-state EEG activities. Amplitude Envelope Correlation (AEC) was used to construct the functional connectivity in the eye-open (EO) and eye-closed (EC) phases. RESULTS: At least three sessions of iTBS were required to enhance multi-task performance significantly, whereas only one or two sessions failed to elicit the improvement. Compared with the control group, iTBS induced significant changes in PSD, AEC functional connectivity, and AEC network properties during the EO phase, while it had little effect during the EC phase. During the EO phase, the network property changes of the iTBS subject were correlated with improved attentional performance. CONCLUSION: The multi-task performance requires multiple stimulations to enhance. iTBS affects the resting-state alpha band brain activities during the EO rather than the EC phase. The AEC network properties may serve as a biomarker to assess the attentional potential of healthy subjects.


Assuntos
Atenção , Cerebelo , Eletroencefalografia , Estimulação Magnética Transcraniana , Humanos , Atenção/fisiologia , Masculino , Feminino , Cerebelo/fisiologia , Cerebelo/diagnóstico por imagem , Adulto , Adulto Jovem , Estimulação Magnética Transcraniana/métodos , Rede Nervosa/fisiologia , Rede Nervosa/diagnóstico por imagem , Descanso/fisiologia , Voluntários Saudáveis
17.
Cereb Cortex ; 34(4)2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38615243

RESUMO

OBJECTIVE: To investigate the alterations in cortical-cerebellar circuits and assess their diagnostic potential in preschool children with autism spectrum disorder using multimodal magnetic resonance imaging. METHODS: We utilized diffusion basis spectrum imaging approaches, namely DBSI_20 and DBSI_combine, alongside 3D structural imaging to examine 31 autism spectrum disorder diagnosed patients and 30 healthy controls. The participants' brains were segmented into 120 anatomical regions for this analysis, and a multimodal strategy was adopted to assess the brain networks using a multi-kernel support vector machine for classification. RESULTS: The results revealed consensus connections in the cortical-cerebellar and subcortical-cerebellar circuits, notably in the thalamus and basal ganglia. These connections were predominantly positive in the frontoparietal and subcortical pathways, whereas negative consensus connections were mainly observed in frontotemporal and subcortical pathways. Among the models tested, DBSI_20 showed the highest accuracy rate of 86.88%. In addition, further analysis indicated that combining the 3 models resulted in the most effective performance. CONCLUSION: The connectivity network analysis of the multimodal brain data identified significant abnormalities in the cortical-cerebellar circuits in autism spectrum disorder patients. The DBSI_20 model not only provided the highest accuracy but also demonstrated efficiency, suggesting its potential for clinical application in autism spectrum disorder diagnosis.


Assuntos
Transtorno do Espectro Autista , Humanos , Pré-Escolar , Transtorno do Espectro Autista/diagnóstico por imagem , Imageamento por Ressonância Magnética , Imagem de Difusão por Ressonância Magnética , Cerebelo/diagnóstico por imagem , Encéfalo
18.
Sci Rep ; 14(1): 8168, 2024 04 08.
Artigo em Inglês | MEDLINE | ID: mdl-38589482

RESUMO

Injury, tumors, ischemia, and lesions in the cerebellum show the involvement of this region in human speech. The association of the cerebellum with learned birdsong has only been identified recently. Cerebellar dysfunction in young songbirds causes learning disabilities, but its role in adult songbirds has not been established. The aim of this study was to investigate the role of the deep cerebellar nuclei (DCN) in adult birdsong. We created bilateral excitotoxic lesions in the DCN of adult male zebra finches (Taeniopygia guttata) and recorded their songs for up to 4 months. Using magnetic resonance imaging (MRI) and immunohistochemistry, we validated the lesion efficacy. We found that the song duration significantly increased from 14 weeks post-op; the increase in duration was caused by a greater number of introductory notes as well as a greater number of syllables sung after the introductory notes. On the other hand, the motif duration decreased from 8 weeks after DCN lesions were induced, which was due to faster singing of syllables, not changes in inter-syllable interval length. DCN lesions also caused a decrease in the fundamental frequency of syllables. In summary, we showed that DCN lesions influence the temporal and acoustic features of birdsong. These results suggest that the cerebellum influences singing in adult songbirds.


Assuntos
Tentilhões , Aves Canoras , Animais , Masculino , Cerebelo/diagnóstico por imagem , Comunicação , Aprendizagem , Vocalização Animal
19.
Dev Cogn Neurosci ; 67: 101379, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38615557

RESUMO

Autism spectrum disorder (ASD) is a neurodevelopmental condition frequently associated with structural cerebellar abnormalities. Whether cerebellar grey matter volumes (GMV) are linked to verbal impairments remains controversial. Here, the association between cerebellar GMV and verbal abilities in ASD was examined across the lifespan. Lobular segmentation of the cerebellum was performed on structural MRI scans from the ABIDE I dataset in male individuals with ASD (N=144, age: 8.5-64.0 years) and neurotypical controls (N=188; age: 8.0-56.2 years). Stepwise linear mixed effects modeling including group (ASD vs. neurotypical controls), lobule-wise GMV, and age was performed to identify cerebellar lobules which best predicted verbal abilities as measured by verbal IQ (VIQ). An age-specific association between VIQ and GMV of bilateral Crus II was found in ASD relative to neurotypical controls. In children with ASD, higher VIQ was associated with larger GMV of left Crus II but smaller GMV of right Crus II. By contrast, in adults with ASD, higher VIQ was associated with smaller GMV of left Crus II and larger GMV of right Crus II. These findings indicate that relative to the contralateral hemisphere, an initial reliance on the language-nonspecific left cerebellar hemisphere is offset by more typical right-lateralization in adulthood.


Assuntos
Transtorno do Espectro Autista , Cerebelo , Substância Cinzenta , Imageamento por Ressonância Magnética , Humanos , Masculino , Transtorno do Espectro Autista/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Substância Cinzenta/patologia , Substância Cinzenta/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Criança , Adulto , Adolescente , Adulto Jovem , Pessoa de Meia-Idade , Comportamento Verbal/fisiologia
20.
Eur J Neurol ; 31(7): e16303, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38634169

RESUMO

BACKGROUND AND PURPOSE: Swallowing is a complex task, moderated by a sophisticated bilateral network including multiple supratentorial regions, the brainstem and the cerebellum. To date, conflicting data exist about whether focal lesions to the cerebellum are associated with dysphagia. Therefore, the aim of the study was to evaluate dysphagia prevalence, recovery and dysphagia pattern in patients with ischaemic cerebellar stroke. METHODS: A retrospective analysis of patients consecutively admitted to an academic stroke centre with ischaemic stroke found only in the cerebellum was performed. The presence of dysphagia was the primary end-point and was assessed by a speech-language pathologist, according to defined criteria. Dysphagia pattern was evaluated by analysing the videos of the flexible endoscopic evaluation of swallowing. Brain imaging was used to identify lesion size and location associated with dysphagia. RESULTS: Between January 2016 and December 2021, 102 patients (35.3% female) with a mean age of 52.8 ± 17.3 years were included. Thirteen (12.7%) patients presented with dysphagia. The most frequently observed flexible endoscopic evaluation of swallowing phenotype was premature spillage (n = 7; 58.3%), whilst significant residues or aspiration did not occur. One patient died (7.7%); the other patients showed improvement of dysphagia and one patient (7.7%) was discharged with dietary restrictions. CONCLUSIONS: Although the involvement of the cerebellum in deglutition has become increasingly evident, isolated lesions to the cerebellum are less likely to cause clinically relevant and persisting dysphagia compared to other brain regions. The observed dysphagia pattern shows a lack of coordination and control, resulting in premature spillage or fragmented bolus transfer in some patients.


Assuntos
Transtornos de Deglutição , AVC Isquêmico , Fenótipo , Humanos , Feminino , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/fisiopatologia , Transtornos de Deglutição/epidemiologia , Masculino , Pessoa de Meia-Idade , Idoso , AVC Isquêmico/complicações , AVC Isquêmico/diagnóstico por imagem , AVC Isquêmico/epidemiologia , Estudos Retrospectivos , Prevalência , Adulto , Recuperação de Função Fisiológica/fisiologia , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Doenças Cerebelares/complicações , Doenças Cerebelares/epidemiologia , Doenças Cerebelares/diagnóstico por imagem
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