• Journal of Genetic Medicine
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• v.4 no.1
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• pp.84-87
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• 2007

Spinocerebellar Ataxia Type 3 (SCA 3) is a rare autosomal dominative disorder in which one of the neurodegenerative disorders is caused by a CAG repeat expansion on chromosome 14q32.1. The age at onset of disease is related to the size of the expanded CAG repeat. We present the prenatal diagnosis of SCA3 in a woman whose husband was known to carry an unstable CAG repeat expansion in the MJD gene. The diagnosis was made using PCR with a fluorescent probe for an expanded MJD allele. The normal ranges of (CAG)n of SCA3 are 14~38 repeats. The husband, who had a family history of SCA 3, has an expanded allele of 69 CAG repeats with a normal allele of 27 repeats. His wife had two normal alleles with 26 and 32 CAG repeats. The fetus had two normal alleles with 26 and 27 CAG repeats; consequently, the baby w as healthy. We report a case of prenatal diagnosis of SCA3 using a fluorescent PCR which is rapid and accurate.

• Journal of Physiology & Pathology in Korean Medicine
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• v.35 no.2
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• pp.71-80
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• 2021

Parkinson's disease is one of the typical neurodegenerative disease and it is caused by the destruction of substantia nigra in brain leading to lack of dopamine secretion, and it presents 4 major motor symptoms such as tremor, bradykinesia, stiffness, postural instability. Furthermore, it causes many non-motor symptoms such as anosmia, REM sleep conduct disorder, orthostatic hypotension, dementia and autonomic ataxia such as lack of adjusting blood pressure, hyperhydrosis, constipation. Dopaminergic therapy is the most commonly used strategy, but long term treatment of levodopa induce various adverse effects. Thus, many people are focusing on new therapies other than established therapies, and there are many tries and approaches with paradigm shift. Our medical team was able to get 4 cases of PD patients who are hospitalized in our hospital, treated by Whole Body Gi-Hyeol Therapy consisting of acupuncture therapy, herbal therapy, and mental therapy, and their conditions improved in perspective of Unified Parkinson's Disease Rating Scale(UPDRS), Heart Rate Variability(HRV), and Quality of life. Among all 4 cases, UPDRS score and quality of life score is gotton better, and among 2 cases SDNN, RMS-SD, TP, LF, HF scores are finely increased. And PDQ-39 score which shows quality of life is also improved. However, in spite of these improvements and positive results, there were no meaningful improvement in a hurt from a fall which is important to the aged, muscular atrophy which causes bone fracture and SMI(Skeletal Muscle Mass Index) which is indicator of osteoporosis. Thus, supplementary treatment about Whole Body Gi-Hyeol Therapy such as more active nutrition intervention, safe and effective kinesitherapy is needed, and from now on continuous case reports and systematic clinical research which has control group must be carried out.

• Journal of the Korean Society of Radiology
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• v.15 no.4
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• pp.555-564
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• 2021

Thalamus is known to play an important role in the regulation of nerve function. Thalamus, located in the center of the brain, is involved in sleep, arousal, and emotional regulation, and has been reported to be associated with multiple sclerosis, essential tremors, and neurodegenerative diseases such as Parkinson's disease. In addition, it has been reported that iron deposits in the thalamus can cause depressive symptoms with age. Although there are discrepancies between studies, it can be deduced that the thalamus region has a clear effect on neurological disorders due to a strong relationship between the thalamus and neurological functions such as emotional control and processing. Through tractography analysis, the connectivity between the detailed areas of each subcortical region was investigated in the form of a matrix, showing strong connectivity and weak interhemispheric connectivity. In the 59> group, the WM connectivity of thalamus was found to be weaker than those of the two groups. Comparisons between the two groups showed that the young groups (10-39 and 40-59) had higher connection intensity than the 59> group and that statistically significant differences in 3 connection pathways were found in each hemisphere. A decrease in thalamus-related connection strength in aging has shown that it can affect emotional and neurological disorders such as anxiety and depression, and network measurements can help assess cognitive impairment across clinical conditions.

• Korean Journal of Acupuncture
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• v.40 no.3
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• pp.90-98
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• 2023

Objectives : Parkinson's disease (PD) is the second most common neurodegenerative disorder worldwide and is characterized by the loss of the dopaminergic neurons in the substantia nigra (SN). In a previous in vitro study, we demonstrated that Sihogyeji-tang (SG), Sihosogan-tang (SS), and Sihocheonggan-tang (SC) have the potential to be candidate medicines for PD. This study aimed to compare the neuroprotective effect of SG, SS, and SC using 1-methyl-4-phenyl-1,2,3,6-tetrahydrophridine (MPTP)-induced PD mouse model. Methods : Eight-week-old male C57BL/6 mice were intraperitoneally administered with 30 mg/kg of MPTP for 5 days and orally administered SG, SS and SC for 12 days from the first MPTP injection. Motor function was assessed using the pole test and the rotarod test. Dopaminergic neuronal survival in the SN and striatum was evaluated through tyrosine-hydroxylase immunohistochemistry. Results : MPTP administration resulted in behavioral impairment and dopaminergic neuronal death in the SN and striatum. In the pole test, treatment with SG, SS, and SC alleviated the MPTP-induced motor dysfunction on day 5 and 12. In the rotarod test, SS and SG alleviated the MPTP-induced motor dysfunction on day 5, while only SS showed improvement on day 12. SS and SG significantly protected dopaminergic neurons in the SN from MPTP toxicity, and all three compounds (SG, SS, and SC) showed significant protection in the striatum. Notably, SS demonstrated superior efficacy in suppressing MPTP-induced motor dysfunction and dopaminergic neuronal death compared to SG and SC. Conclusions : These findings suggest that SS is the most effective formula among SG, SS, and SC for PD, indicating its potential role in the treatment of PD.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.25-30
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• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.