• Clinical and Experimental Pediatrics
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• v.57 no.2
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• pp.91-95
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• 2014

Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The elder brother presented with a purely neurological picture, whereas the younger one presented with fever, pancytopenia, hepatosplenomegaly, and erythema nodosum. Considering that cutaneous hypopigmentation was a common feature between the brothers, genetic analysis for Griscelli syndrome was performed. As the elder sibling had died, mutation analysis was only performed on the younger sibling, which revealed a novel homozygous mutation in the RAB27A gene on chromosome 15 showing a single-base substitution (c.136T>A p.F46I). Both parents were heterozygous for the same mutation. This confirmed the diagnosis of GS2 in the accelerated phase in both siblings. The atypical features of GS2 in these cases are a novel mutation, isolated neurological involvement in one sibling, association with erythema nodosum, and 2 distinct clinical presentations in siblings with the same genetic mutation.

• Annals of Clinical Neurophysiology
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• v.22 no.2
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• pp.82-91
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• 2020

Electroencephalography (EEG) produces time-series data of neural oscillations in the brain, and is one of the most commonly used methods for investigating both normal brain functions and brain disorders. Quantitative EEG analysis enables identification of frequencies and brain activity that are activated or impaired. With studies on the structural and functional networks of the brain, the concept of the brain as a complex network has been fundamental to understand normal brain functions and the pathophysiology of various neurological disorders. Functional connectivity is a measure of neural synchrony in the brain network that refers to the statistical interdependency between neural oscillations over time. In this review, we first discuss the basic methods of EEG analysis, including preprocessing, spectral analysis, and functional-connectivity and graph-theory measures. We then review previous EEG studies of brain network characterization in several neurological disorders, including epilepsy, Alzheimer's disease, dementia with Lewy bodies, and idiopathic rapid eye movement sleep behavior disorder. Identifying the EEG-based network characteristics might improve the understanding of disease processes and aid the development of novel therapeutic approaches for various neurological disorders.

• Journal of Korean Neurosurgical Society
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• v.41 no.4
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• pp.252-254
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• 2007

Ependymal cysts are neuroepithelial cysts, typically found in the central white matter of the temporoparietal and frontal lobes. Clinical symptoms usually result from neurological deficits referable to these regions, from seizures, and chronic headaches associated with increased intracranial pressure. We describe here a case of ependymal cyst on the right fronto-parietal lobe, presenting with tremor and weakness. The cyst was resected surgically and presurgical neurological abnormalities were improved. An exploratory surgery with establishment of an adequate route of drainage and histological examination of the cyst wall are mandatory in the management of patients with a progressive and symptomatic intraparenchymal cyst.

• Korean Journal of Psychosomatic Medicine
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• v.21 no.2
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• pp.99-105
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• 2013

The movement disorders in psychiatry have been neglected, though it is an important psychiatric dimension to exert unfavorable influence on patients'quality of life. The etiologies of movement disorders in psychiatry can be classified as primary neurological disorders, psychiatric comorbidities of neurological disorders, manifestations of primary psychiatric disorders, drug-induced movement disorders and psychogenic movement disorders. For the rapid and proper treatment for movement symptoms and signs easily observed from psychiatric patients, psychiatrists' ability toward precise disgnosis and differential diagnosis of movement disorders should be preceded.

• Journal of the Korean neurological association
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• v.36 no.4
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• pp.280-288
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• 2018

Vertigo/dizziness is a common complaint in patients who are seeking a primary health clinic. Vertigo is traditionally attributed to damage of the vestibular system. Many peripheral and central vestibular disorders are usually presented with vertigo. However, patients with benign paroxysmal positional vertigo (BPPV), a leading cause of vertigo, may present with postural lightheadedness, near faint, imbalance rather than true vertigo. On the contrary, patients with orthostatic hypotension may present with true spinning vertigo, not dizziness. Persistent postural perceptual dizziness, a second most common cause of dizziness (after BPPV), is mainly occurred after organic vestibular disorders such as BPPV or vestibular neuritis, and classified as a chronic functional vestibular disorder. This article describes non-vestibular disorders presenting dizziness and/or vertigos, which conditions may be misdiagnosed as structural vestibular disorders.

• Journal of Ginseng Research
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• v.45 no.3
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• pp.371-379
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• 2021

Mitochondrial dysfunction contributes to the pathogenesis and prognosis of many common disorders, including neurodegeneration, stroke, myocardial infarction, tumor, and metabolic diseases. Ginsenosides, the major bioactive constituents of Panax ginseng (P. ginseng), have been reported to play beneficial roles in the molecular pathophysiology of these diseases by targeting mitochondrial dysfunction. In this review, we first introduce the types of ginsenosides and basic mitochondrial functions. Then, recent findings are summarized on different ginsenosides targeting mitochondria and their key signaling pathways for the treatment of multiple diseases, including neurological disorders, cancer, heart disease, hyperglycemia, and inflammation are summarized. This review may explain the common targets of ginsenosides against multiple diseases and provide new insights into the underlying mechanisms, facilitating research on the clinical application of P. ginseng.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.4 no.1
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• pp.133-141
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• 1993

Present study investigated the differences in psychological tests responses between chronic motor tic disorder and tourette's disorder to clarify whether chronic motor tic and tourette's disorder constitute a single disorder on a continuum or not. Based on the diagnosis by child psychiatrists 29 chronic motor tic disorder and 10 tourette's disorder children between the age of 6 to 13 were selected, and the psychological tests responses of two diagnostic groups were compared. The results showed that tourette's disorder is more related to neulological problems than chronic motor tic disorder. Also it was found that children with tourette's disorder have more difficulties in social-emotional adjustment than children with chronic motor tic disorder. These results suggested that interactions among neurological factor, emotional factor and temperamental characristics might be more involved in tourette's disorder than in chronic motor tic disorder. The limitations of present study and the need for futher research on the comorbidity of tourette's disorder and ADHD were discussed.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.7 no.1
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• pp.92-109
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• 1996

The objectives of the present study were to provide comprehensive assessment of the impact of epilepsy on the psychological well-being of children with epilepsy and to identify the neurological factors associated with the psychopathology. The participant patients were recruited from the population of children and adolescent aged 7 to 16 attending the OPD of department of pediatric neurology in Seoul National University Hospital in Korea. We exclude mental retardation, pervasive developmental disorder and brain organic pathology. As control group, formal students were chosen and their sex, age, achievement, socioeconomic status were matched to patients. The first author interviewed the children and their family members and obtained the developmental history and family information. We used the following 10 scales for assessing psychological and behavioral problems in patients and their family member. The scales were standardized and their validity and reliability were confirmed before. Parent rating scales : Yale children's inventory, Disruptive behavior disorder scale, Parent's attitude to epilepsy questionnaire, Family environment scale, Symptom check-list-90 revision, Children behavior check-list. Children's self rating scales : Children's depression inventory, Spielberger's state-trait anxiety anxiety, Piers-Harris self-concept inventory and Self-administered Dependency questionnaire for Mother. The result showed the risk factors associated depression were early onset, complex partial seizure, lateralized temporal focal abnormality on EEG, Drug polypharmacy, high seizure frequency and sick factors associated anxiety were old age of patient, lateralized temporal focal abnormality EEG, Drug polypharmacy, high seizure frequency. Also the result of this present study indicated that risk factors associated oppositional defiant disorder, conduct disorder and attention deficit hyperactivity disorder were young age, male, early onset, lateral temporal EEG abnormality and high seizure frequency. According to these results, common risk factors associated psychological and behavioral problems were lateralized EEG temporal abnormality, high seizure frequency in neurological factors.

• Speech Sciences
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• v.15 no.2
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• pp.89-97
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• 2008

There is a number of clinical conditions that affect directly or indirectly the physical properties of the vocal folds and thereby the pressure waveforms of elicited sounds. If the relationships between the clinical conditions and the voice quality are sufficiently reliable, it should be possible to detect these diseases or disorders. The focus of this paper is to determine the set of features and their values that would characterize the speaker's state of vocal folds. To the extent that these features can capture the anatomical, physiological, and neurological aspects of the speaker they can be potentially used to mediate an unobtrusive approach to diagnosis. We will show a new approach to this problem supported with results obtained from two disordered voice corpora.

• Molecular & Cellular Toxicology
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• v.3 no.2
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• pp.77-84
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• 2007

Millions of individuals worldwide are currently afflicted with neurodegenerative disorders such as Parkinson's disease and multiple sclerosis which are caused by the death of specific types of specialized cells in the Central Nervous System (CNS). Recently, Neural Stem Cells (NSCs) are able to replace these dead cells with new functional cells, thereby providing a cure for devastating neural diseases. The clinical use of neural stem cells (NSCs) for the treatment of neurological diseases requires overcoming the scarcity of the initial in vivo NSC population. Thus, we developed a novel 3-dimentional cellular automata model for optimum production of neural stem cells and their derivatives in large scale to treat neurodegenerative disorder patients.