• Journal of Genetic Medicine
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• v.19 no.2
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• pp.94-99
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• 2022

Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized by tumors in various systems. Some children with NF1 also accompanies neurodevelopmental problems. Here, we describe a 5-year-old boy with a maternally inherited pathogenic variant in NF1 and hypoxanthine-guanine phosphoribosyltransferase (HPRT). He was referred for severe neurodevelopmental impairment and hyperuricemia. His mother was diagnosed with NF1 and the patient was also suspected of having NF1 because of cafe au lait macules. He had dystonia, rigidity, cognitive deficit, and speech/language impairment. Serum and urine uric acid concentrations were elevated. He had more severe neurodevelopmental delay than patients with only NF1, so his clinical symptoms could not be fully understood by the disease alone. To find the cause of his neurologic symptoms and hyperuricemia, the patient and his mother underwent a whole-exome sequencing test. As a result, the pathogenic variant c.151C>T (p.Arg51Ter) in HPRT1 was identified as hemizygote in the patient and heterozygote in his mother. The pathogenic variant c.7682C>G (p.Ser2561Ter) in NF-1 was identified as heterozygotes in both of them. Although the clinical symptoms of both diseases were overlapping and complicated, genetic testing was helpful for accurate diagnosis and treatment. Therefore, we suggest to consider preemptive genetic evaluation if there are symptoms not sufficiently explained by known existing diseases. And it is considered valuable to review this rare case to understand the clinical course and possible synergic effects of these diseases.

• BMB Reports
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• v.51 no.11
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• pp.549-556
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• 2018

Mitochondria are ubiquitous and multi-functional organelles involved in diverse metabolic processes, namely energy production and biomolecule synthesis. The intracellular mitochondrial morphology and distribution change dynamically, which reflect the metabolic state of a given cell type. A dramatic change of the mitochondrial dynamics has been observed in early development that led to further investigations on the relationship between mitochondria and the process of development. A significant developmental process to focus on, in this review, is a differentiation of neural progenitor cells into neurons. Information on how mitochondria-regulated cellular energetics is linked to neuronal development will be discussed, followed by functions of mitochondria and associated diseases in neuronal development. Lastly, the potential use of mitochondrial features in analyzing various neurodevelopmental diseases will be addressed.

• Journal of Genetic Medicine
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• v.21 no.1
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• pp.6-13
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• 2024

Rare diseases are characterized by a low prevalence, which often means that patients with such diseases are undiagnosed and do not have effective treatment options. Neurodevelopmental and neurological disorders make up around 40% of rare diseases and in the past decade, there has been a surge in the identification of genes linked to these conditions. This has created the need for model organisms to reveal mechanisms and to assess therapeutic methods. Different model animals have been employed, like Caenorhabditis elegans, Drosophila, zebrafish, and mice, to investigate the rare neurological diseases and to identify the causative genes. While the zebrafish has become a popular animal model in the last decade, mainly for studying brain development, understanding neural circuits, and conducting chemical screens, the mouse has been a very well-known model for decades. This review explores the strengths and limitations of using zebrafish as a vertebrate animal model for rare neurological disorders, emphasizing the features that make this animal model promising for the research on these disorders.

• Environmental Analysis Health and Toxicology
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• v.25 no.4
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• pp.259-262
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• 2010

In this review, we give an overview of psychiatric perspectives on environmental disease. The concept of genetic heritability and its meaning with regard to environmental risk factors will be discussed. Recent ideas of gene-environment interaction and neurodevelopmental disorder in psychiatry will also be introduced. This article discusses the environmental risk factors for attention deficit hyperactivity disorder (ADHD) and autism, the two major environmental diseases and neurodevelopmental disorders in psychiatry. Given that both ADHD and autism are complex conditions, the etiology is likely to involve multiple genes of moderate effect interacting with environmental factors. We will introduce recent environmental issues related to these two disorders.

• Journal of Ginseng Research
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• v.37 no.1
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• pp.8-29
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• 2013

Ginseng is one of the most widely used herbal medicines in human. Central nervous system (CNS) diseases are most widely investigated diseases among all others in respect to the ginseng's therapeutic effects. These include Alzheimer's disease, Parkinson's disease, cerebral ischemia, depression, and many other neurological disorders including neurodevelopmental disorders. Not only the various types of diseases but also the diverse array of target pathways or molecules ginseng exerts its effect on. These range, for example, from neuroprotection to the regulation of synaptic plasticity and from regulation of neuroinflammatory processes to the regulation of neurotransmitter release, too many to mention. In general, ginseng and even a single compound of ginsenoside produce its effects on multiple sites of action, which make it an ideal candidate to develop multi-target drugs. This is most important in CNS diseases where multiple of etiological and pathological targets working together to regulate the final pathophysiology of diseases. In this review, we tried to provide comprehensive information on the pharmacological and therapeutic effects of ginseng and ginsenosides on neurodegenerative and other neurological diseases. Side by side comparison of the therapeutic effects in various neurological disorders may widen our understanding of the therapeutic potential of ginseng in CNS diseases and the possibility to develop not only symptomatic drugs but also disease modifying reagents based on ginseng.

• Journal of mucopolysaccharidosis and rare diseases
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• v.5 no.1
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• pp.29-33
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• 2021

Prader-Willi Syndrome (PWS) is a neurodevelopmental genomic imprinting disorder involving a lack of gene expression from the paternal chromosome 15q11-q13 region. This is typically due to paternal 15q11-q13 deletions (in approximately 60% of cases), maternal uniparental disomy 15, or when both 15s are from the mother (about 35% of cases). An imprinting center controls the expression of imprinted genes in the chromosome 15q11-q13 region. PWS is a neurodevelopmental disorder characterized by mental retardation and distinct physical, behavioral, and psychiatric features. Characteristic behavioral disturbances in PWS include excessive interest in food, skin picking, difficulty with a change in routine, temper tantrums, obsessive and compulsive behaviors, and mood fluctuations. Individuals with PWS typically have intellectual disabilities (borderline to mild/moderate mental retardation) and exhibit a higher overall level of behavior disturbances compared to individuals with similar intellectual disabilities. This condition severely limits social adaptations and quality of life. Different factors have been linked to the intensity and form of these behavioral disturbances, but there is no consensus regarding the cause. Consequently, there is still controversy surrounding management strategies and there is a need for new data. PWS is a multisystem disorder. Family members, caregivers, physicians, dieticians, and speech-language pathologists all play an important role in the management and treatment of symptoms in an individual with PWS. Here we analyze behavioral problems in children and adults with PWS by age and review appropriate management and treatment strategies for these symptoms.

• Clinical and Experimental Pediatrics
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• v.55 no.8
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• pp.272-279
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• 2012

Purpose: The aim of this study was to develop an appropriate nursing information guideline according to corrected age, after investigating parents' concerns about the growth, development, and diseases of their premature infants after discharge from the neonatal intensive care unit (NICU). Methods: The parents of premature infants (birth weight, <2,500 g; gestational age, <37 weeks) who went to a neonatal follow-up clinic after NICU discharge at Seoul St. Mary's Hospital from January 2005 to December 2009, were asked with regard to their concerns about their infants through a questionnaire survey. The results of physical examinations, including body measurements and neurodevelopmental status at 4, 8, 12, and 18 months of corrected age, were retrospectively reviewed in 390 infants. Results: The most common parental concerns were developmental delay, poor growth, and feeding and nutritional problems. Parental concerns about developmental delay, growth failure in improvement in body weight and length, and overweightness were high in specificity but very low in sensitivity. After NICU discharge, 30% of premature infants experienced infectious diseases before 18 months of corrected age, the most common of which was respiratory tract infection. Conclusion: For guiding of premature infants in outpatient day clinics after NICU discharge, it is necessary to identify the parents' highest concerns, to educate them about the possibilities of growth and neurodevelopmental disabilities in their infants and to provide them with handouts containing guidelines on the management of infectious diseases, especially respiratory infections.

• Journal of Life Science
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• v.32 no.1
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• pp.70-77
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• 2022

Endocrine disrupting chemicals (EDCs) have been attracting significant attention in modern society, owing to the increased incidence rate of various diseases along with population growth. EDCs are found in many commercial products, including some plastic bottles and containers, detergents, liners of metal food cans, flame retardants, food, toys, cosmetics, and pesticides. EDCs have a hormonal effect on the human body, which disrupts the endocrine system, notably affecting sexual differentiation and normal reproduction, and can trigger cancer as well. Recently, the association between neurological diseases and EDCs has become a hot topic of research in the field of neuroscience. Considering that EDCs negatively affect not only neuronal proliferation and neurotransmission but also the formation of the neuronal networks, EDCs may induce neurodevelopmental disorders, such as autism spectrum disorders and attention-deficit/hyperactivity disorder as well as neurodegenerative diseases, including Parkinson's disease and Alzheimer's disease. In light of these potentially deleterious outcomes, important efforts have been underway to minimize the exposure to EDCs through appropriate regulations and policies around the world, but chemicals that have not yet been associated with endocrine disrupting properties are still in wide use. Therefore, more epidemiological investigations and research are needed to fully understand the effects of EDCs on the nervous system.

• Journal of mucopolysaccharidosis and rare diseases
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• v.5 no.1
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• pp.39-41
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• 2021

Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder of hyperphagia leading to severe obesity, intellectual deficits, compulsivity, and other behavioral problems. PWS is caused by the inactivation of contiguous genes on chromosome 15q11-q13, which complicates the development of targeted, effective therapeutics. Various preclinical studies have been conducted by developing mouse models that exhibit phenotypes similar to PWS. Oxytocin deficiency in PWS is associated with hyperphagia with impaired satiety and, food-seeking and behavior disorders. Here, we summarize the oxytocin study of ingestion behavior tested in the PWS mouse model and published data from clinical trials that have evaluated treatment effectiveness on ingestion behavior and social dysfunction in patients with PWS.

• Korean Journal of Biological Psychiatry
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• v.10 no.2
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• pp.121-125
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• 2003

Objective:Recently, many experimental evidences have been reported that psychiatric diseases are closely related with neurodevelopmental abnormalities and this can be properly explained by apoptosis. It is known that Apo-1/Fas is one of the genes in charge of apoptosis related with neurodevelopmental abnormalities. In this study, the association between bipolar disorder and functional polymorphism in Apo-1/Fas promoter gene has been investigated. Method:For 81 bipolar disorder patients and 217 healthy control subjects, MvaI restriction fragment length polymorphism(RFLP) of Apo-1/Fas promoter gene was analyzed after polymerase chain reaction(PCR) amplification. Result:There was a statistical significant difference in genotypic distribution(${\chi}^2$=16.656, df=2, p=0.0002) and allelic frequencies(${\chi}^2$=14.225, df=1, p=0.0002) between bipolar disorder patients and healthy control subjects. Conclusion:Our results suggest an association between functional polymorphism in Apo-1/Fas promoter gene and bipolar disorder and provide the important genetic information related with the pathogenesis of the disease. Further studies employing larger samples are required to clarify the present results.