• Journal of Genetic Medicine
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• v.2 no.1
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• pp.17-22
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• 1998

The Lesch-Nyhan syndrome which is caused by the deficiency of hypoxanthine guanine phosphoribosyltransferase is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, mental retardation and compulsive self-injurious behavior. Clinical management of the patients with the Lesch-Nyhan syndrome is frustrating and requires burdensome medical treatment since it cripples the patient and shortens the life span by progression of neurological symptoms, but there are no cures or measures for relieving relentless natural course of the disease yet. Therefore, prenatal diagnosis of the affected fetus is important in genetic counselling for the family at high risk. In this study, four different mutations in the HPRT gene of four probands have been identified in four unrelated families; K215X, Q109X, nt.631 ${\Delta}A$, and nt.289 ${\Delta}GT$. Two mutations among them altered restriction enzyme sites; SpeI for Q109X and MaeI for nt.289 ${\Delta}GT$. Based on their molecular defects, prenatal diagnoses of 3 the fetuses were successfully made between ninth and eleventh week of gestation by polymerase chain reaction (PCR), restriction digestion and DNA sequencing using cDNA obtained from chorionic villus samples (CVS). We predicted the outcome of all fetuses prenatally. Among the three fetuses two were male and one was female according to the identification made by PCR amplification of the sex determining region of the Y chromosome(SRY) gene. Each carried a wild type allele for the corresponding mutant allele. They were also tested postnatally for the mutations to be unaffected.

• Korean Journal of Pharmacognosy
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• v.46 no.3
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• pp.243-249
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• 2015

Myrrh, Angelicae Radix, and Schisandrae Fructus have been used to treat diverse diseases including neurological disorder in the traditional Korean medicine. In the present study, we investigated the ameliorating effects of HPM-1, a combined extract of Myrrh, Angelicae Radix and Schisandrae Fructus, on scopolamine-induced memory impairments in mice. First, we assessed HPM-1, HPM-2 and HPM-3, in which Myrrh was extracted with water, 30% ethanol, and 30% ethanol/3% vinegar, respectively. The oral administration of HPM-1, HPM-2, or HPM-3 significantly reversed scopolamine-induced reduction of spontaneous alternation in the Y-maze task. In the passive avoidance task, HPM-1 or HPM-3 restored the decreased latency time of the retention trial by scopolamine treatment, but in terms of efficacy, HPM-1 showed more beneficial effects than HPM-3. In addition, HPM-1 administration reversed scopolamine-induced reduction of spontaneous alternation in the Y-maze task and scopolamine-decreased latency time in the passive avoidance in a dose-dependent manner. These results suggest that HPM-1 has the therapeutic potential in memory impairments.

• Biomolecules & Therapeutics
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• v.28 no.2
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• pp.152-162
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• 2020

Cerebral ischemia exhibits a multiplicity of pathophysiological mechanisms. During ischemic stroke, the reactive oxygen species (ROS) concentration rises to a peak during reperfusion, possibly underlying neuronal death. Recombinant human erythropoietin (EPO) supplementation is one method of treating neurodegenerative disease by reducing the generation of ROS. We investigated the therapeutic effect of PEGylated EPO (P-EPO) on ischemic stroke. Mice were administered P-EPO (5,000 U/kg) via intravenous injection, and middle cerebral artery occlusion (MCAO) followed by reperfusion was performed to induce in vivo ischemic stroke. P-EPO ameliorated MCAO-induced neurological deficit and reduced behavioral disorder and the infarct area. Moreover, lipid peroxidation, expression of inflammatory proteins (cyclooxygenase-2 and inducible nitric oxide synthase), and cytokine levels in blood were reduced by the P-EPO treatment. In addition, higher activation of nuclear factor kappa B (NF-κB) was found in the brain after MCAO, but NF-κB activation was reduced in the P-EPO-injected group. Treatment with the NF-κB inhibitor PS-1145 (5 mg/kg) abolished the P-EPO-induced reduction of infarct volume, neuronal death, neuroinflammation, and oxidative stress. Moreover, P-EPO was more effective than EPO (5,000 U/kg) and similar to a tissue plasminogen activator (10 mg/kg). An in vitro study revealed that P-EPO (25, 50, and 100 U/mL) treatment protected against rotenone (100 nM)-induced neuronal loss, neuroinflammation, oxidative stress, and NF-κB activity. These results indicate that the administration of P-EPO exerted neuroprotective effects on cerebral ischemia damage through anti-oxidant and anti-inflammatory properties by inhibiting NF-κB activation.

• Journal of Veterinary Clinics
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• v.33 no.3
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• pp.168-171
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• 2016

Signalment: An 8-month-old female Alaskan malamute was presented for progressive cluster seizure disorder. Results: There were no abnormalities on neurological examination, survey radiographs, or blood analysis. Magnetic resonance (MR) imaging and computed tomography revealed extension of the olfactory bulb and frontal lobe into the nasal cavity. They also confirmed abnormal anatomy of the nasal turbinates within the rostral part of the nasal cavity and the absence of a cribriform plate. On T2-weighted and fluid-attenuated inversion recovery images, the herniated brain showed heterogeneous and hyperintense signals consistent with intraparenchymal edema. Transverse MR images showed brain herniation into the right frontal cavity and an asymmetrical lateral ventricle because of a left midline shift. On contrast-enhanced MR images, the protruding brain parenchyma was mildly enhanced. Ethmoidal encephalocele was suspected as the final diagnosis. Despite symptomatic treatment, the dog continued to exhibit seizures and was euthanized. Clinical relevance: Ethmoidal encephalocele is a rare disease in dogs. However, it could be considered as a cause of seizure in young dogs.

• Clinical and Experimental Pediatrics
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• v.52 no.12
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• pp.1388-1391
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• 2009

Poland syndrome is characterized by unilateral absence or hypoplasia of the pectoralis muscle and variable degree of ipsilateral hand anomalies. Mobius syndrome is a congenital neurological disorder characterized by complete or partial facial paralysis. Although the pathogeneses of these diseases are not well-characterized, diminished blood flow to the affected side is thought to play a role. A male infant weighing 2.670 g was born at 38+3 weeks of gestation with left facial paralysis, left chest wall defect with dextrocardia, and symbrachydactyly between the second and third fingers. The combination of Poland-Mobius syndrome is rare, and only 2 cases associated with dextrocardia have been reported worldwide. Here, we report the first case of Poland-Mobius syndrome associated with dextrocardia in Korea.

• Clinical and Experimental Pediatrics
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• v.57 no.11
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• pp.496-499
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• 2014

Wernicke's encephalopathy is an acute neurological disorder characterized by mental confusion, oculomotor dysfunction, and ataxia. It has been reported in individuals with alcohol dependence, hyperemesis gravidarum, and prolonged parenteral nutrition without vitamin supplementation. Here we present the case of a 13-year-old male patient with neuroblastoma and a history of poor oral intake and nausea for 3 months. After admission, he showed gait disturbances, nystagmus, and excessive dizziness; his mental state, however, indicated he was alert, which did not fit the classical triad of Wernicke's encephalopathy. A diagnosis of Wernicke's encephalopathy was made only after brain magnetic resonance imaging and serum thiamine level analyses were performed. The patient's symptoms remained after 5 days of treatment with 100-mg thiamine once daily; thus, we increased the dosage to 500 mg 3 times daily, 1,500 mg per day. His symptoms then improved after 20 days of replacement therapy. This case report describes a pediatric patient who was promptly diagnosed with Wernicke's encephalopathy, despite only 2 suspicious symptoms, and who completely recovered after high doses of thiamine were given intravenously.

• BMB Reports
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• v.53 no.9
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• pp.484-489
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• 2020

Epilepsy is a neurological disorder characterized by unpredictable seizures, which are bursts of electrical activity that temporarily affect the brain. Cereblon (CRBN), a DCAFs (DDB1 and CUL4-associated factors), is a well-established protein associated with human mental retardation. Being a substrate receptor of the cullin-RING E3 ubiquitin ligase (CRL) 4 complex, CRBN mediates ubiquitination of several substrates and conducts multiple biological processes. In the central nervous system, the large-conductance Ca²⁺-activated K⁺ (BK_Ca) channel, which is the substrate of CRBN, is an important regulator of epilepsy. Despite the functional role and importance of CRBN in the brain, direct injection of pentylenetetrazole (PTZ) to induce seizures in CRBN knock-out mice has not been challenged. In this study, we investigated the effect of PTZ in CRBN knock-out mice. Here, we demonstrate that, compared with WT mice, CRBN knock-out mice do not show the intensification of seizures by PTZ induction. Moreover, electroencephalography recordings were also performed in the brains of both WT and CRBN knockout mice to identify the absence of significant differences in the pattern of seizure activities. Consistently, immunoblot analysis for validating the protein level of the CRL4 complex containing CRBN (CRL4^Crbn) in the mouse brain was carried out. Taken together, we found that the deficiency of CRBN does not affect PTZ-induced seizure.

• Clinical and Experimental Pediatrics
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• v.50 no.9
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• pp.901-904
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• 2007

Purpose : Reversible posterior leukoencephalopathy syndrome is a complex disorder with characteristic clinical and radiologic findings that mainly involve the white/gray matter of the parieto-occipital lobes. The purpose of this study was to determine its clinical and radiological characteristics. Methods : A total of 15 pateints were involved in the study. Their medical records and radiological features of brain MRI were retrospectively reviewed and analyzed. Results : Fifteen pateints were involved. (9 males and 5 females). The patients' ages ranged from 2-20 years (mean age : 10 years). The brain MRI revealed fairly symmetric areas of increased T2 signal involving both white and gray matter of parieto-occipital regions. The condition seemed to be associated with cyclosporin A and steroid therapy or a variety of other conditions in which blood pressure rises acutely. Conclusion : Reversible posterior leukoencephalopathy syndrome is a complicated neurological condition, but a better understanding of this complex syndrome may obviate unnecessary investigations and lead to prompt and appropriate management of the associated problems.

• The Korean Journal of Physiology and Pharmacology
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• v.22 no.6
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• pp.649-660
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• 2018

Migraine is a neurological disorder characterized by recurrent and disabling severe headaches. Although several anticonvulsant drugs that block voltagedependent $Na^+$ channels are widely used for migraine, far less is known about the therapeutic actions of carbamazepine on migraine. In the present study, therefore, we characterized the effects of carbamazepine on tetrodotoxin-resistant (TTX-R) $Na^+$ channels in acutely isolated rat dural afferent neurons, which were identified by the fluorescent dye DiI. The TTX-R $Na^+$ currents were measured in medium-sized DiIpositive neurons using the whole-cell patch clamp technique in the voltage-clamp mode. While carbamazepine had little effect on the peak amplitude of transient $Na^+$ currents, it strongly inhibited steady-state currents of transient as well as persistent $Na^+$ currents in a concentration-dependent manner. Carbamazepine had only minor effects on the voltage-activation relationship, the voltage-inactivation relationship, and the use-dependent inhibition of TTX-R $Na^+$ channels. However, carbamazepine changed the inactivation kinetics of TTX-R $Na^+$ channels, significantly accelerating the development of inactivation and delaying the recovery from inactivation. In the current-clamp mode, carbamazepine decreased the number of action potentials without changing the action potential threshold. Given that the sensitization of dural afferent neurons by inflammatory mediators triggers acute migraine headaches and that inflammatory mediators potentiate TTX-R $Na^+$ currents, the present results suggest that carbamazepine may be useful for the treatment of migraine headaches.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.8 no.2
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• pp.217-231
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• 1997

This paper first reviewed the current neurological theories concerning the etiology of ADHD and secondly, examined results of studies that applied neuropsychological assessment methods in the examination of ADHD children both here in Korea and abroad. ADHD children were found to exhibit characteristic responses indicating deficits in vigilance, sustained attention, distractibility, allocation and regulation of attention in many assessments of attention, in addition to deficits in executive functioning, working and associative memory. Such neuropsychological assessment results suggest that in addition to dysfunction in the frontal lobe and the reticular activation system, dysfunction may exist in other neural pathways involving many areas of the brain. However, because a substantial number of neuropsychological assessment tools being employed in Korea for ADHD children had been developed abroad, a Korean standardization project involving ADHD and normal control children, in addition to other child psychiatric population pools must be conducted in order to obtain appropriate age norms and test validity, and in order to make possible a more accurate and precise comparison and interpretation in the assessment of ADHD children.