• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.2
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• pp.38-40
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• 2016

Prader-Willi syndrome (PWS) is a rare genetic disorder often caused by a deletion of the chromosome 15q11-q13 region inherited from the father or by maternal disomy 15. Growth hormone deficiency with short stature, hypogonadism, cognitive and behavioral problems, analgesia, decreased gastric motility and decreased ability to vomit with hyperphagia are common in PWS leading to severe obesity in early childhood, if not controlled. The goal of this study is to investigate the effects of recombinant human GH (rhGH, henceforth designated GH) on the gene expression related to cognitive function in the brain of PWS mouse model (Snord116del). GH restored the mRNA expression level of several genes in the cerebellum. These data suggest the effect of GH on the expression of cognitive function related genes in cerebellum may provide a mechanism for the GH-induced brain function in PWS patients.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.27 no.1
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• pp.64-71
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• 2016

Objectives: The objective of this study was to examine the effects of osmotic-controlled release oral delivery system methylphenidate on changes in regional cerebral blood flow (rCBF) in children with attention-deficit hyperactivity disorder (ADHD) using single photon emission computed tomography (SPECT). Methods: A total of 26 children with ADHD (21 boys, mean age: $9.2{\pm}2.05$ years old) were recruited. Each ADHD participant was examined for changes in rCBF using technetium-99m-hexamethylpropylene amine oxime brain SPECT before and after 8 weeks methylphenidate medication. Brain SPECT images of pediatric normal controls were selected retrospectively. SPECT images of ADHD children taken before medication were compared with those of pediatric normal controls and those taken after medication using statistical parametric mapping analysis on a voxel-wise basis. Results: Before methylphenidate medication, significantly decreased rCBF in the cerebellum and increased rCBF in the right precuneus, left anterior cingulate, right postcentral gyrus, right inferior parietal lobule and right precentral gyrus were observed in ADHD children compared to pediatric normal controls (p-value<.0005, uncorrected). After medication, we observed significant hypoperfusion in the left thalamus and left cerebellum compared to pediatric normal controls (p-value<.0005, uncorrected). In the comparison between before medication and after medication, there was significant hyperperfusion in the superior frontal gyrus and middle frontal gyrus and significant hypoperfusion in the right insula, right caudate, right middle frontal gyrus, left subcallosal gyrus, left claustrum, and left superior temporal gyrus after methylphenidate medication (p-value<.0005, uncorrected). Conclusion: This study supports dysfunctions of fronto-striatal structures and cerebellum in ADHD. We suggest that methylphenidate may have some effects on the frontal lobe, parietal lobe, and cerebellum in children with ADHD.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.8 no.1
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• pp.113-122
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• 1997

The purpose of this study was to examine brain structural abnormalities in autistic children. Magnetic resonance imaging(MRI) findings in 22 male children with a DSM-Ⅲ-R diagnosis of autistic disorder and 17 non-autistic male control children were investigated. The ratio measures by lineometry was used to examine the cerebrum, midbrain, cerebellum, brain stem and ventricular system. The left to right ratio of the lateral ventricle was larger in autistic children than in controls. The pons was significantly larger in autistic children than in controls, and the cerebellum was smaller in autistic children. There were no significant differences between autistic children and controls in the symmetricity of the fontral lobe, parietal lobe, occipital lobe and temporal lobe, and in the size of the midbrain and 4th ventricle. These findings suggest that autistic disorder may be related to structural impairment of the brain.

• The Journal of Internal Korean Medicine
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• v.39 no.4
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• pp.802-813
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• 2018

This case report describes a patient with olivopontocerebellar atrophy accompanied by sleep disorder and gait disturbance whose condition was improved by treatment with Korean medicine. The 61-year-old woman, who was diagnosed with olivopontocerebellar atrophy (Multiple Systemic Atrophy-Cerebellum), was admitted to hospital twice and treated with Korean medicine (acupuncture and herbal medicine) and rehabilitation. The Korean medicine was Gwibiondam-tang-gami and Jaeumgeonbi-tang-gami. Clinical symptoms were assessed by the Modified Bathel index, functional independent measurement, Berg balance scale, and Unified Multiple System Atrophy rating scale. A brain MRI at the one-year follow up after onset showed similar progress but clinical symptoms were improved after treatment, and the evaluation index score increased. Multiple system atrophy, a type of degenerative neurological disease, has no targeted treatment. In this situation, although this report describes a single case, Korean medicine treatment could provide a meaningful improvement in the sleep disturbance and gait disorder symptoms of patients with olivopontocerebellar atrophy.

• Molecules and Cells
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• v.27 no.6
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• pp.621-627
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• 2009

Spinocerebellar ataxia type 1 (SCA1) is an autosomal-dominant neurodegenerative disorder characterized by ataxia and progressive motor deterioration. SCA1 is associated with an elongated polyglutamine tract in ataxin-1, the SCA1 gene product. As summarized in this review, recent studies have clarified the molecular mechanisms of SCA1 pathogenesis and provided direction for future therapeutic approaches. The nucleus is the subcellular site where misfolded mutant ataxin-1 acts to cause SCA1 disease in the cerebellum. The role of these nuclear aggregates is the subject of intensive study. Additional proteins have been identified, whose conformational alterations occurring through interactions with the polyglutamine tract itself or non-polyglutamine regions in ataxin-1 are the cause of SCA-1 cytotoxicity. Therapeutic hope comes from the observations concerning the reduction of nuclear aggregation and alleviation of the pathogenic phenotype by the application of potent inhibitors and RNA interference.

• Molecules and Cells
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• v.41 no.5
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• pp.373-380
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• 2018

Synapses and neural circuits form with exquisite specificity during brain development to allow the precise and appropriate flow of neural information. Although this property of synapses and neural circuits has been extensively investigated for more than a century, molecular mechanisms underlying this property are only recently being unveiled. Recent studies highlight several classes of cell-surface proteins as organizing hubs in building structural and functional architectures of specific synapses and neural circuits. In the present minireview, we discuss recent findings on various synapse organizers that confer the distinct properties of specific synapse types and neural circuit architectures in mammalian brains, with a particular focus on the hippocampus and cerebellum.

• Korean Journal of Veterinary Research
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• v.63 no.3
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• pp.26.1-26.5
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• 2023

Syringobulbia is a rare neurological disorder characterized by a fluid-filled cavity in the brainstem. In this study, clinical signs, features on magnetic resonance imaging (MRI), and the diseases present concurrently with syringobulbia were investigated in 33 small breed dogs. Most dogs (97%) had concurrent syringomyelia, and some dogs (24%) presented with vestibular or cranial nerve symptoms associated with the medulla oblongata. MRIs revealed slit-like, bulbous, and vertical linear shapes of the cavities on T2-weighted hyperintense and T1-weighted hypointense signals similar to the cerebrospinal fluid. Chiari-like malformations were identified in all dogs. This study highlights the association of syringobulbia with syringomyelia and Chiari-like malformations in small breed dogs with or without brainstem-associated clinical signs.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.4 no.1
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• pp.68-78
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• 1993

The pathophysiology and neural mechanism involved in Tourette's and chronic motor tic disorder are highly controversial. In order to investigate the functional abnormalities of brain. In Tourette's and chronic motor tic disorder, 42 children with Tourette's and chronic motor disorder underwent single photon emission computed tomography(SPECT) using Tc-99m-HM-PAO. The results are summarized as follows : 1) 31.0% (13/42) of this series revealed perfusion defect in cerebral cortex. 2) 4.8% (2/42) revealed perfusion defect in basal ganglia. 3) 4.8(2/42) revealed perfusion defect in thalamus. 4) 16.7%(7/42) showed perfusion defect in cerebellum. 5) The frequency of abnormal perfusion showed no significant difference between tic with and without attention deficit hyperactivity disorder. 6) The frequency of abnormal perfusion showed no significant difference between Tourette's and chronic motor tic disorder. These findings support the hypothesis of a possible involvement of brain dysfunction in the production of Tourette's and chronic motor tic disorder, and quantification of blood flow and co-registration with magnetic resonance imaging will increase the validity of this study.

• The Journal of Internal Korean Medicine
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• v.32 no.3
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• pp.435-443
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• 2011

Fahr disease (FD) is a rare neurological disorder characterized by presence of abnormal and associated cell loss in certain areas of the brain, mostly in basal ganglia, thalamus, cerebellum and subcortical areas. Approximately two-thirds of the patients are symptomatic. The most common neurological manifestations include movement disorders, cognitive impairment, cerebellar signs and speech disorders. We report one case of estimated FD through brain computed tomography (bilateral calcifications of basal ganglia, thalamus, centrum semiovale, subcortical white matter of occipital lobes, cerebellum). At the first time of treatment, he complained of tremors in his upper limbs. We diagnosed the patient as deficiency of qi (氣) and movement of phlegm-heat-wind (痰熱風動) type according to symptoms and treated by herbs and acupuncture of oriental medicine. During treatments, we evaluated how well the oriental medical treatments were working using visual analogue scale (VAS) and amplitude of hands. After the oriental medical treatments about tremor, VAS dropped from 10 to 2 and amplitude of hands from 20 mm to 2 mm, but the ratio of brain calcifications was not changed. This study suggests that oriental medical treatments can be applicable to improve FD.

• Journal of Pharmacopuncture
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• v.12 no.4
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• pp.5-32
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• 2009

Objectives: This study was performed to analyse single dose toxicity of pure melittin(Sweet Bee Venom-Sweet BV) extracted from the bee venom by utilizing protein isolation method of gel filtration. Methods: All experiments were conducted at Biotoxtech, a non-clinical studies authorized institution, under the regulations of Good Laboratory Practice (GLP). Six weeks old female Sprague-Dawley rats were chosen for the pilot study and determined 30㎎/㎏ which is 4285 times higher than the clinical application dosage as the high dosage, followed by 15 and 7.5㎎/㎏ as mid and lose dosage, respectively. Equal amount of excipient to the Sweet BV experiment groups was administered as the control group. Results: 1. No mortality was witnessed in all of the experiment groups. 2. Hyperemia and movement disorder were observed around the area of administration in all groups, and higher occurrence in the higher dosage groups. Hyperemia and movement disorder diminished with elapsed time. 3. For the weight measurement, male groups showed larger reduction in weight in accordance with higher dosage. Female groups didn't s how significant changes. 4. To verify abnormalities of organs and tissues, cerebellum, cerebrum, liver, lung, kidney, and spinal nerves were removed and conducted histological observation with H-E staining. No abnormalities were detected in any of organs and tissues. 5. One female rat in the 30㎎/㎏ group had amputated toe near the administered area and histopathological finding was hemorrhage with inflammation. This is presumed as a secondary infection after the administration of Sweet BV. Conclusion: Above findings suggest Sweet BV is relatively s safe treatment medium. Further studies on the subject should be conducted to yield more concrete evidences.