In this study, we show that ANKS1A is specifically expressed in the brain endothelial cells of adult mice. ANKS1A deficiency in adult mice does not affect the differentiation, growth, or patterning of the cerebrovascular system; however, its absence significantly impacts the cerebrovascular system of the aged brain. In aged ANKS1A knock-out (KO) brains, vessel lesions exhibiting cerebral cavernous malformations (CCMs) are observed.In addition, CCM-like lesions show localized peripheral blood leakage into the brain. The CCM-like lesions reveal immune cells infiltrating the parenchyma. The CCM-like lesions also contain significantly fewer astrocyte endfeets and tight junctions, indicating that the integrity of the BBB has been partially compromised. CCM-like lesions display increased fibronectin expression in blood vessels, which is also confirmed in cultured endothelial cells deficient for ANKS1A. Therefore, we hypothesize that ANKS1A may play a role in maintaining or stabilizing healthy blood vessels in the brain during aging.

Background: and Purpose: Hippocampal atrophy (HA) resulting from a central nervous system (CNS) infection might be a relevant lesion responsible for the clinical characteristics of medial temporal lobe epilepsy. Methods: The clinical characteristics of 54 patients with CNS infection-related medial temporal lobe epilepsy (MTLE) with isolated HA (CNS infection group) and 155 patients with conventional MTLE with HA (conventional group) were compared retrospectively. CNS infection alone and bilateral involvement of the HA were analyzed as prognostic factors, in addition to the detailed clinical characteristics, such as limbic aura and the presence and proportion of each type of automatism, between the two groups, and both medical and surgical prognoses were separately considered. A logistic regression analysis was performed. Results: A statistical analysis including all clinical factors, including CNS infection with bilateral HA, did not reveal significant differences between the two groups. An analysis comparing the prognosis of the two groups based on good or poor prognosis among patients who received medical treatment and good or poor outcomes among patients who received surgical treatment did not produce significant differences. Conclusions In addition to bilateral HA, CNS infection alone was not a poor prognostic factor for the CNS infection-related epilepsy with HA group compared with the conventional MTLE with HA group. Based on these negative results, HA is a plausible and relevant lesion with similar clinical characteristics to HA in patients with conventional MTLE. Therefore, CNS infection-related MTLE with isolated HA might represent another subtype of MTLE with HA with a different etiology.

PURPOSE: We explored whether the deviation angle in patients with intermittent exotropia was greater when the prism adaptation test was used rather than the prism cover test. METHODS: From January 2013 to December 2017, we performed the prism cover and adaptation tests on patients with intermittent exotropia. If the deviation angle increased by more than 5 PD after the prism adaptation test, surgery was performed. The outcomes of patients followed-up for more than 1 year after surgery were analyzed retrospectively. RESULTS: In total, 76 of 100 patients (76.0%) exhibited deviation angle increases of over 5 PD, the mean increase was 9.8 ± 6.3 prism diopters (PD) for near vision and 3.6 ± 3.5 PD for distance vision. Satisfactory motor alignment was achieved in 57 patients; 42 were undercorrected and 1 was overcorrected. The success rate was 62.5% in the non-responder group (n = 24, patients in whom the deviation angle did not increase after prism adaptation) and 68.9% in the full augmentation group (n = 45, in whom the deviation angle was increased). In the partial augmentation group (n = 31), where the surgical target was a 50% increase in the deviation angle, the success rate was lower than in the other groups. CONCLUSIONS The preoperative prism adaptation test can be used to determine the angle of deviation and improves the surgical outcomes of patients with intermittent exotropia.

OBJECTIVES: This study estimated the overall incidence of iatrogenic Creutzfeldt-Jakob disease (iCJD) based on dura graft cases in Korea using a mathematical model. METHODS: We estimated the number of annual dura grafts performed between 1980 and 1995 by applying the proportion of dura grafts recorded by the Health Insurance Review Agency claim dataset in Korea to the number of nationwide neurosurgery cases. The distribution of the incubation period was assumed to fall under a Weibull distribution with density function or a log-logistic distribution with density function. RESULTS: The total number of neurosurgery procedures performed from 1980 to 1995 was estimated to be 263,945, and among those operations, 37% used dura graft products. Between the years of 1980 and 2020, our model predicted that the total number of iCJD cases would be between 14.9 and 33.2 (95% confidence interval [CI], 13.4 to 50.9). Notably, we estimated that the cumulative number of iCJD cases caused by dura grafts between 1980 and 2011 was approximately 13.3 to 27.3 (95% CI, 12.2 to 40.6). CONCLUSIONS: Based on our model, we postulate that the incidence of iCJD will sharply decline from 2012 to 2020. However, additional new cases are still expected, which necessitates a strong national surveillance system.
Cadaver* ; Creutzfeldt-Jakob Syndrome* ; Dataset ; Dura Mater* ; Incidence ; Insurance, Health ; Korea* ; Models, Theoretical ; Neurosurgery ; Prion Diseases ; Transplants*

Eph receptors and their ligands, ephrins, are abundantly expressed in neuroepithelial cells of the early embryonic brain. Overstimulation of Eph signaling in vivo increases apoptotic cell death of neuroepithelial cells, whereas null mutation of the Eph gene leads to the development of a larger brain during embryogenesis. Thus, it appears that Eph-ephrin signaling plays a role in regulating apoptotic cell death of neuroepithelial cells, thereby influencing brain size during embryonic development. Interestingly, Eph-ephrin signaling is bi-directional, with forward signaling from ephrin- to Eph-expressing cells and reverse signaling from Eph- to ephrin-expressing cells. However, it is not clear whether this forward or reverse signaling plays a role in regulating the size of the neuroepithelial cell population during early brain development. Also, Eph receptors and their corresponding ligands are mutually exclusive in their expression domains, and they encounter each other only at interfaces between their expression domains. This expression pattern may be a critical mechanism for preventing overstimulation of Eph-ephrin signaling. Nevertheless, Eph receptors are co-expressed with their corresponding ligands in certain brain regions. Recently, two studies demonstrated that brain region-specific apoptosis may be triggered by the overlapping expression of Eph and ephrin, a theme that will be explored in this mini-review.
Apoptosis ; Brain ; Cell Death ; Embryonic Development ; Ephrins ; Female ; Ligands ; Neuroepithelial Cells ; Pregnancy ; Receptor, EphA1 ; Receptors, Eph Family

EphA/ephrin-A mediated signaling has emerged as a key mechanism regulating axon guidance and topographic mapping, particularly in the well-characterized visual system from the retina to the superior colliculus (SC). In this study, EphA8 bacterial artificial chromosome (BAC) was manipulated to contain a floxed eGFP and human ephrin-A5 expression cassette using homologous recombination method. In the mice containing the recombinant BAC, it was shown that GFP is expressed in an anterior>posterior gradient in the SC. Furthermore, when these mice were crossed with the transgenic mice expressing Cre under the EphA8 promoter, it was evident that a GFP expression cassette was eliminated, and that human ephrin-A5 was ectopically expressed in the anterior region of the SC. This transgenic model would be useful to analyze the role of ephrin-A5 in the SC during the retinocollicular topography formation.
Animals ; Axons ; Chromosomes, Artificial, Bacterial ; Ephrin-A5 ; Homologous Recombination ; Humans ; Mice ; Mice, Transgenic ; Retina ; Superior Colliculi

We report superior sagittal sinus thrombosis as a central nervous system presentation of Behcet's disease in a patient with peripheral vascular and enteric involvement. The main symptoms were headache and horizontal diplopia due to intracranial hypertension. T1-weighted MRI with gadolinium enhancement revealed a similar pattern of the "empty delta sign" that is usually seen on brain CT. A magnetic resonance venogram revealed filling defects resulting from the thrombosis. These features are helpful for the noninvasive diagnosis of sagittal sinus thrombosis.
Brain ; Central Nervous System ; Diplopia ; Gadolinium ; Headache ; Humans ; Intracranial Hypertension ; Magnetic Resonance Spectroscopy ; Sagittal Sinus Thrombosis ; Superior Sagittal Sinus ; Thrombosis

Insular lobe seizure (ILS) is very rare and ictal focus has not been documented by neuroimaging studies. Clinical characteristics consist of clearly preserved consciousness, visceral sensation, somatomotor symptoms, and dysphonic or dysarthric speech. We report a 34-year-old female with ILS, manifesting as first onset status epilepticus. SISCOM and SPM analysis through brain MRI and 18F FDG PET-CT reveals ictal focus on the bilateral claustrum, which has a close relationship with insula anatomically. This is the first case report in Korea.
Adult ; Basal Ganglia* ; Brain ; Consciousness ; Female ; Humans ; Korea ; Magnetic Resonance Imaging ; Neuroimaging ; Seizures* ; Sensation ; Status Epilepticus*

Eyelid myoclonia with absence is a distinct syndrome of idiopathic generalized epilepsy, characterized by the triad of eyelid myoclonia associated with brief absences, generalized discharges of 3-6 Hz polyspike and slow waves, which are mainly precipitated by eye closure or photosensitivity. We experienced two women with eyelid myoclonia with absence, who typically showed fixation off sensitivity and catatmenial exacerbation. Carabamazepine monotherapy aggravated the seizure frequency and resulted in nonconvulsive status epilepticus. These cases have not previously been reported in Korea.
Epilepsy, Generalized ; Eyelids* ; Female ; Humans ; Korea ; Seizures ; Status Epilepticus*

Limbic encephalitis has been reported usually as an autoimmune complication related to onconeuronal antigen of underlying cancer with poor prognosis. Antibodies reactive with neuronal voltage-gated potassium channels (VGKCs) are recently recognized as a pathogenic cause in nonparaneoplastic limbic encephalitis, which is responsive to immunotherapy. We report a patient who had subacute encephalopathy with clinical and radiographic evidences of limbic encephalitis. The patient was seropositive for VGKC antibodies and resulted in a good prognosis with steroids. This has not yet been reported in Korea.
Antibodies ; Humans ; Immunotherapy ; Korea ; Limbic Encephalitis* ; Neurons ; Potassium Channels, Voltage-Gated* ; Prognosis ; Steroids