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H-ABC tubulinopathy exhibits a cytoskeletal defect associated with microtubule stability.

Tubulinopathies are a recently characterized group of neurological disorders caused by mutations in tubulin-encoding genes. Among them, muta … fications (PTMs) of tubulin are altered in H-ABC by performing immunostaining on the cerebellum and corpus callosum of control and taiep rats. Compared to controls, taiep rats displayed significantly elevated levels of tubulin acetylation and detyrosination within white matter regions. Moreover, tubulin phosphorylation-typically associated with polymerized tubuli …

Cerebral arterial mapping in the equine brain: a detailed anatomical study.

INTRODUCTION: Detailed knowledge of the cerebral arterial system in equine brain is required for advancing neuroanatomical understanding and … g the carotid and basilar systems. The rostral cerebral artery supplied the rostromedial cortex and corpus callosum; the middle cerebral artery supplied the lateral and dorsolateral cortical surfaces; and the caudal cerebral artery supplied the occipital and caudal temporal lobes. Minor anatomical variations were observed, including interhemispheric anastomoses i …

Optical Coherence Tomography Findings in the Optic Disc Before and After Removal of Brain Tumor in a Case of Foster Kennedy Syndrome.

We report a case of Foster Kennedy Syndrome (FKS) caused by a frontal lobe tumor in which the optic disc (OD) shape was first monitored by o … n parenchyma of the anterior base of the skull, severely compressing both the frontal lobes and the corpus callosum. The patient underwent surgery for tumor removal. Six months after surgery, the visual field improved, but a central scotoma remained in the left eye. The OD thickness in the right and left eyes was 360 and 279 μm, respectively. RNFL thickness decre …

Delayed Remote Intracerebral Hemorrhage following Coil Embolization Using a Simple Technique for Ruptured Anterior Communicating Artery Aneurysm: A Case Report of Subarachnoid Hemorrhage.

INTRODUCTION: Delayed remote intracerebral hemorrhage (rICH) is a well-established complication following flow diverter placement for intrac … p computed tomography scan performed the next day revealed intracerebral hemorrhage compressing the corpus callosum, remote from the treated aneurysm. No bleeding source was identified angiographically. Elevated D-dimer levels were noted postoperatively. CONCLUSION: Hemorrhagic transformation of microembolic infarctions is considered a possible mechanism of the …

Выборочное ингибирование TLR2 стимулирует созревание олигодендроглиевых клеток потомства до олигодендроцитов.

Важно описать новые технологии для преодоления барьера и поощрения ремиелионации, поскольку многие аксоны остаются демиелиномированными в CNS пациентов с множественным склерозом (MS). Недавние исследования показывают, что LR2 является негативным регулятором созревания олигодендроглиевых клеток потомства (OPC) до олигодендроцитов (OLs) и что TLR2 присутствует в хронических повреждениях MS человека. Однако до недавнего времени не существовало конкретного ингибитора TLR2. Поэтому мы создали пептид, соответствующий TLR2-interacting Домена MyD88 (TIDM), которая конкретно препятствует TLR2, но не др

Совпадение в аннотации оригинала
It is important to describe new technologies for overcoming the barrier and promoting remyelination because many axons remain demyelinated i … wtTIDM, but not mTIDM, was capable of increasing OPC maturation and promoting remyelination in the corpus callosum of cuprizone-intoxicated mouse model of demyelination. These results indicate that wtTIDM stimulates the maturation of OPCs via TLR2 and that intranasal wtTIDM may be further evaluated preclinically for stimulating remyelination.

MRI-based insights into brain structural and functional alterations in schizophrenia treated with risperidone.

BACKGROUND: Schizophrenia (SZ) is a severe psychiatric disorder, with antipsychotics serving as the primary treatment. Among them, risperido … s including the prefrontal lobe, temporal lobe, cingulate gyrus, corona radiata, basal ganglia, and corpus callosum. CONCLUSION: Most research has focused on short-term effects, with limited longitudinal data to assess long-term efficacy and side effects, more researches could be added in the future. In addition, more potential methods such as DKI, DSI and brain …

Autism spectrum disorder and 3p24.3p23 triplication: a case report.

BACKGROUND: The role of copy number variants as genomic mutations causative of neurodevelopmental disorders has been recently established. T … mild dysmorphic traits, and congenital anomalies (cardiac septal defects, gliotic changes, thinned corpus callosum, and arachnoid cyst), carrying a 13 Mb de novo 3p24.3p23 triplication. CONCLUSION: Our case suggests that the 3p24 chromosome region could be associated with a syndromic form of autism spectrum disorder and contribute to delineate its distinct clin …

A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome.

Congenital heart defects and skeletal malformations syndrome (CHDSKM) is a rare autosomal dominant genetic disorder characterized by specifi … such as umbilical hernia and intestinal malrotation, intellectual disability, and dysgenesis of the corpus callosum, which are atypical for this syndrome. Molecular genetic analysis identified a de novo mutation (c.898C>G) in exon 5 of the ABL1 gene, resulting in a novel missense mutation (p.Gln300Glu). This case emphasizes the importance of considering CHDSKM in …

Evaluating brain injury outcomes in female subjects: A computational approach to accident reconstruction of fatal and non-fatal cases.

Traumatic brain injury remains a significant concern in public health, affecting millions of individuals globally and leading to long-term c … female finite element head model, with a particular focus on critical brain structures such as the corpus callosum and pituitary gland. Two real-world accident scenarios were simulated: a non-fatal e-scooter collision and a fatal work-related incident involving a falling prop. A finite element analysis was conducted to determine the strain and stress distributio …

Susac syndrome and associated diagnostic challenges: a case report.

BACKGROUND: Susac syndrome is a rare autoimmune endotheliopathy, with a few hundred cases reported. It is characterized by a triad of enceph … . Brain magnetic resonance imaging showed multiple punctate hyperintense lesions, especially in the corpus callosum, suggestive of cerebral vasculitis. Retinal fluorescein angiography later revealed bilateral branch retinal artery occlusion. Following clinical and radiological findings, a diagnosis of Susac syndrome was established. The patient was treated with h …

Демиелинция производит сдвиг в населении кортикальных нейронов, которые синапсируют с каллосальными олигодендроцитными клетками.

Клетки потомства олигодендроцитов (ОРК) получают синаптическое воздействие от различных нейронов в мозгу развивающихся и взрослых. Понимание того, меняются ли нейронные популяции, которые синапируют с OPC в здоровом мозге в результате обезвоживания и/или ремиэлирования, может способствовать совершенствованию стратегий нейрозащиты или миелинового ремонта, разрабатываемых для демиелинизирующих заболеваний, таких, как множественный склероз. Чтобы изучить эту возможность, мы использовали трансгенную технологию крелокса, чтобы облегчить инфекцию ОПС модифицированным вирусом бешенства, что позволяет

Совпадение в аннотации оригинала
Oligodendrocyte progenitor cells (OPCs) receive synaptic input from a diverse range of neurons in the developing and adult brain. Understand … retrograde monosynaptic tracing of neuron→OPC connectivity. In the healthy adult mouse, OPCs in the corpus callosum primarily received synaptic input from ipsilateral cortical neurons. Of the cortical neurons, ∼50% were layer V pyramidal cells. Cuprizone demyelination reduced the total number of labeled neurons. However, the frequency/kinetics of mini-excitatory …

Primary Central Nervous System Vasculitis Mimicking Susac Syndrome and Multiple Sclerosis With Long-Term Remission and Spontaneous Resolution of Lesions: A Case Report.

Primary central nervous system vasculitis (PCNSV) is an angiitis localized to the central nervous system (CNS), with various manifestations … ess. Susac syndrome was suspected because of sensorineural hearing loss and snowball lesions in the corpus callosum. Some of the brain lesions resolved spontaneously. A biopsy was performed on a right frontal lobe lesion, which revealed vasculitis with fibrinoid necrosis, no demyelinating lesions, no amyloid positivity, and no infiltration of atypical lymphocytes …

Childhood obesity's effect on cognition and brain connectivity worsens with low family income.

Childhood obesity and its adverse health consequences have risen worldwide, with low socioeconomic status increasing the risk in high-income … s associated with multiple brain measures that were strongest for lower longitudinal diffusivity in corpus callosum; increased activity in cerebellum, insula, and somatomotor cortex; and decreased functional connectivity in multimodal brain areas, with effects more pronounced among children from low-income families. Notably, nearly 80% of the association of low i …

Repeated non-hemorrhagic and non-contusional mild traumatic brain injury in rats elicits behavioral impairment with microglial activation, astrogliosis, and tauopathy: Reproducible and quantitative model of chronic traumatic encephalopathy.

Chronic traumatic encephalopathy (CTE) has attracted attention due to sports-related head trauma or repetitive mild traumatic brain injury ( … regation was limited. At 4w, phosphorylated Tau significantly accumulated in the prefrontal cortex, corpus callosum, CA1, and dentate gyrus of rats that received triple mTBI, compared to sham or those exposed to single, or double mTBI. This repetitive mTBI rat model provides a highly reproducible and quantifiable brain and behavioral pathology reminiscent of CTE.

Cognitive status correlates of subclinical action tremor in female carriers of FMR1 premutation.

BACKGROUND: There is evidence for a significant excess of kinetic upper limb tremor in non-FXTAS female FMR1 premutation carriers. The prese … ypothesis about the association between the white matter hyperintensities (wmhs) in the splenium of corpus callosum assessed from MR images and spiral drawings scores. RESULTS: The spiral drawing scores were significantly correlated with all three non-verbal cognitive test scores, and with the CRST scores; the latter correlated with all four cognitive test measu …

Fetus with multiple congenital anomaly syndrome caused by novel variant in ATP1A2.

We report a 32-year-old G3P1 at 35 weeks 3 days with a dichorionic, diamniotic twin gestation who presented for evaluation secondary to ventriculomegaly (VM) in one twin. Fetal ultrasound and MRI demonstrated microcephaly, severe VM, compression of the corpus callosum, scalp and nuchal thickening, elongated ears, bilateral talipes, right-sided congenital diaphragmatic hernia (CDH), and loss of normal cerebral architecture, indicative of a prior insult in the affected twin. The co-twin was grossly normal. The family pursued a palliative care pathway for the affected twin and was delivered at 37…

Complex structural variation and nonsense variant in trans cause VPS50-related disorder.

Homozygous VPS50 variants have been previously described in two unrelated patients with a neurodevelopmental disorder with microcephaly, sei … 50-related core phenotype comprises severe developmental delay, postnatal microcephaly, hypoplastic corpus callosum, neonatal low gamma-glutamyl transpeptidase cholestasis and failure to thrive. The disease is potentially fatal in early childhood.

Clinical relevance of reversible cerebral vasoconstriction syndrome in pregnant women with posterior reversible encephalopathy syndrome: review of case reports in Japan.

We systematically reviewed case reports of posterior reversible encephalopathy syndrome (PRES), and investigated the characteristics of PRES … ganglia, parietal lobe, frontal lobe, brain stem, cerebellum, temporal lobe, thalamus, and splenium corpus callosum (47.5, 42.6, 24.7, 16.1, 9.3, 5.6, 4.3, and 0.0%, respectively). Edema types in 79 cases with PRES were mainly the vasogenic edema type (91.1%), with very few cases of the cytotoxic edema type (3.8%) and mixed type (5.1%). Among 25 PRES cases with R …

KCNJ3 is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia identified using whole genome sequencing.

Hereditary spastic paraplegia (HSP) is a group of familial diseases characterized by progressive corticospinal tract degeneration. Clinicall … he ages of 20 and 30. Brain magnetic resonance images typically showed white matter changes, a thin corpus callosum, and cerebellar atrophy. We identified a heterozygous missense variant, KCNJ3 c.1297T>G (p.Leu433Val), through WGS and family genetic analysis, confirmed by Sanger sequencing. We suggest that the identification of KCNJ3 c.1297T>G (p.Leu433Val) const …

Exosome-specific loading Sox10 for the treatment of Cuprizone-induced demyelinating model.

Demyelination is a pathological feature commonly observed in various central nervous system diseases. It is characterized by the aggregation … oSs can regulate the differentiation of PDGFRα+ OPCs into APC+ OLGs and reduce myelin damage in the corpus callosum region of the mouse brain compared to other groups. Further testing suggests that Sox10 may have a reparative effect on the myelin sheath by enhancing the expression of MBP, possibly facilitated by the exosome delivery of the protein into the lesion …