• Journal of Industrial Convergence
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• v.22 no.3
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• pp.51-65
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• 2024

This study aims to understand positive changes in balance and gait function and difficulties in the instructor's guidance process through repetitive basic motor skill-based physical activities targeting people with cerebellar ataxia. For this purpose, five adults with cerebellar ataxia were selected as research subjects, and their three instructors participated as research participants. To collect quantitative data, the average and standard deviation were examined through pre-and post-evaluation of the research participants' physical activity classes for 16 weeks. The mean and standard deviation of the collected data were calculated using the Shapiro-Wilk test in the SAS 9.1 statistical program (p<.05). As a qualitative data collection method, the cultural description method of developmental research(DSR) proposed by Spradley(1980) was adopted, and the collected data were analyzed inductively according to the analysis method of Mertens(1990). Through this, 31 concepts, 10 subcategories, and 4 categories were discovered. As a result, the difficulties experienced by the research participants included insufficient guidance environment, dissatisfaction of consumers, difficulty in guidance, and non-cooperation of colleagues. Based on these research results, it was found that institutional, legal, and policy support should be provided not only to public institutions but also to private physical activity institutions that can use vouchers in order to maintain the balance of adults with cerebellar ataxia as well as to guide their physical activities.

• Clinical and Experimental Reproductive Medicine
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• v.34 no.3
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• pp.179-188
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• 2007

Objectives: Many neurological diseases are known to be caused by expansion of trinucleotide repeats (TNRs). It is hard to diagnose the alteration of TNRs with single cell level for preimplantation genetic diagnosis (PGD). In this study, we describe methods optimized for PGD of TNRs related diseases such as Huntington's disease (HD), spinocerebellar ataxia 3 (SCA3) and fragile X syndrome (FXS). Methods: We performed the preclinical assays with heterozygous patient's lymphocytes by single cell PCR strategy. Fluorescent semi-nested PCR and fragment analysis using automatic genetic analyzer were applied for HD and SCA 3. Whole genome amplification with multiple displacement amplification (MDA) method and fluorescent PCR were carried out for FXS. Amplification and allele drop-out (ADO) rate were evaluated in each case. Results: The fluorescent semi-nested PCR of single lymphocyte showed 100.0% of amplification and 14.0% of ADO rate in HD, and 94.7% of amplification and 5.6% of ADO rate in SCA3, respectively. We could not detect the PCR product of CGG repeats in FXS using the fluorescent semi-nested PCR alone. After applying the MDA method in FXS, 84.2% of amplification and 31.3% of ADO rate were achieved. Conclusions: Fluorescent semi-nested PCR is a reliable method for PGD of HD and SCA3. The advanced MDA method overcomes the problem of amplification failure in CGG repeats of FXS case. Optimization of methods for single cell analysis could improve the sensitivity and reliability of PGD for complicated single gene disorders of TNRs.

• The Journal of the Korea Contents Association
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• v.18 no.11
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• pp.634-642
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• 2018

People with spinocerebellar ataxia, a hereditary and progressive neurogenic disorder, suffer from ataxic dysarthria due to cerebellar dystrophy. This study was designed to examine if intensive motor speech treatment yields improvement in progressive ataxic dysarthria and if then, to investigate magnitude of therapeutic effect. SPEAK $OUT!^{(R)}$ was provided to a 55-year old female diagnosed with SCA for improving motor speech functions. Magnitude of therapeutic effect was large in changes of MPT and vocal intensity across speech tasks. Small effect size was found in changes of fundamental frequency, however, large therapeutic effect was observed in changes of frequency range. In addition, improvement of vocal quality based on jitter, shimmer, and HNR was observed with large therapeutic effect size and vowel space was expanded, particularly, due to F1. Lastly, VHI scores were decreased. Intensive motor speech treatment, called as SPEAK $OUT!^{(R)}$ was effective enough to observe improvement in vocal intensity, frequency range, and vocal quality, expanding vowel space and lowering VHI scores. Based on the results of this case study, further efficacy evaluation of SPEAK $OUT!^{(R)}$ for improving progressive ataxic dysarthria in people with SCA is required.

• The Journal of Pediatrics of Korean Medicine
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• v.19 no.2
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• pp.41-50
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• 2005

Objective : The autosomal dominent cerebellar ataxia(ADCA) is an unusal familial herediatary disorder that has been called olivopontoerebellar atrophy. Recently ADCA referred to as spinocerebellar ataxia(SCA) by molecular genetic characteristics. The purpose of this study is to focus on the improvement of clinical symptoms in SCA patient by oriental medical treatment. Materials & Methods : We experienced a case of the 6-year-old female patient with SCA and the MRI showed atrophy of cerebellum. The patient's chief symptoms come within the purview of five kinds of retardation and five kinds of flaccidity. We treated her with herb medicine (Yukmijihwang-tang gamibang), acupuncture, scalp acupuncture. After we measured the progress of general condition by MBI(Modified Bathel Index). Results : After oriental medical treatment, chief symptoms (ataxia, weakness of low extremities, dysarthria, etc.) and general condition were improved. Conclusion : We suggest that oriental medical therapy is effective to the possibility of treatment on SCA, but more clinical study and observation should be needed.

• Clinical and Experimental Pediatrics
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• v.48 no.4
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• pp.425-432
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• 2005

Purpose : Polyglutamine diseases are a group of diseases caused by the expansion of a polyglutamine tract in the protein. The present study was performed to verify if polyglutamine disease transgenic Drosophila models show similar dysfunctions as are seen in human patients. Methods : Polyglutamine disease transgenic Drosophila were tested for their climbing ability. And using genetic methods, the effects of anti-apoptotic gene bcl-2 and chemical chaperones on neurodegeneration were observed. Also, spinocerebellar ataxia 2 (SCA2) transgenic Drosophila lines were generated for future studies. Results : Expanded forms of spinocerebellar ataxia 3 (SCA3) transgenic protein causes characteristic locomotor dysfunction when expressed in the nervous system of Drosophila but the anti-apoptotic gene bcl-2 shows no evidence of ameliorating the deleterious effect of the expanded protein. However, Glycerol, a chemical chaperone, seemed to reduce the toxicity, at least in the eyes of the transgenic flies. The level SCA2 expression is too weak in the transgenic SCA2 Drosophila for evaluation. Conclusion : SCA3 transgenic Drosophila show ataxic behavior as observed in human patients. Chemical chaperones such as glycerol may prove beneficial in this class of genetic disease, which has no current method of cure.

• Clinical and Experimental Pediatrics
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• v.53 no.4
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• pp.607-611
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• 2010

Bickerstaff's brainstem encephalitis (BBE) is a rare disease diagnosed by specific clinical features such as 'progressive, relatively symmetric external ophthalmoplegia and ataxia by 4 weeks' and 'disturbance of consciousness or hyperreflexia' after the exclusion of other diseases involving the brain stem. Anti-ganglioside antibodies (GM, GD and GQ) in the serum or cerebrospinal fluid (CSF) are sometimes informative for the diagnosis of BBE because of the rarity of positive findings in other diagnositic methods: brain magnetic resonance imaging (MRI), routine CSF examination, motor nerve conduction study, and needle electromyography. We report a rare case of childhood BBE with elevated anti-GM1 antibodies in the serum, who had specific clinical symptoms such as a cranial polyneuropathy presenting as ophthalmoplegia, dysarthria, dysphagia, and facial weakness; progressive motor weakness; altered mental status; and ataxia. However, the brain MRI, routine CSF examination, nerve conduction studies, electromyography, somatosensory evoked potentials, and brainstem auditory evoked potentials were normal. BBE was suspected and the patient was successfully treated with intravenous immunoglobulins.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.3 no.1
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• pp.32-37
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• 2003

Ornithine transcarbamylase(OTC) deficiency is the most common of all the urea cycle disorders. In this X-linked disorder, the hemizygote males are more severely affected than heterozygote females. The Heterozygote female may have mild episodic hyperammonemia symptoms in late infancy or childhood(late onset) or no clinical manifestations. Here we report a 6 year-old girl with late onset OTC deficiency who showed recurrent episodic lethargy, mental confusion and ataxia. On mutation analysis using DNA sequencing after PCR amplification of the 10 exons of OTC gene, G to T transversion in codon 221, causing substitution of asparagine for lysine was detected in exon 6.

• Clinical and Experimental Pediatrics
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• v.50 no.6
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• pp.580-584
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• 2007

Multiple sclerosis (MS) is a demyelinating disorder that affects discrete areas of the CNS, including the optic nerves, in a quite variable relapsing-remitting fashion over a prolonged period of time. Although MS is usually considered to be a disease that affects peoples in early to middle adulthood, children do develop multiple sclerosis. The frequency of MS onset before the age of 15 years is 2.7-5% of all cases, while MS onset during infancy and early childhood was observed to be 0.2-0.7% of all cases. We report here on a Korean case of a relapsing-remitting MS female child who was treated with four rounds of intravenous methylpredinsolone pulse therapy and preventive Interferon-$\beta$-1b ($Betaferon^{(R)}$).

• Journal of Veterinary Clinics
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• v.31 no.5
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• pp.439-444
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• 2014

A 5-year-old, 2.7 kg female maltese dog was presented a local veterinary clinic with one week history of hindlimb lameness associated with patellar luxation. Reduction of bilateral medial patellar luxation was operated using trochlear resection and lateral reinforcement technique. Three weeks after the surgery, the dog showed bending spine with pain in thoracic and lumbar region, continuous ataxia and intermittent convulsion. Magnetic resonance imaging scanning revealed a hyperintense mass in right frontal lobe of brain and abnormal cavitation from cervical cord to third lumbar cord. Histopathologically, neoplasm in brain composed of meningothelial cells showed loosely reticular or lace-like morphology with numerous extracellular cystic spaces of variable size and shape. Neoplastic cells were positive for vimentin and negative for neuron specific enolase and glial fibrillary acidic protein. Irregular shaped enlarge central canal-like cavity was existed in cervical and lumbar cords. In our best knowledge, this report described the clinical findings, imaging and histopathologic characteristics of unusual intracranial microcystic meningioma with secondary syringomyelia in a dog.

• The Korean Journal of Zoology
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• v.33 no.4
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• pp.454-460
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• 1990

The effed of acrylamide on the nervous system has heen morphologically studied using light and electron microscopes. The light micrographs on central and pedpheral nervous tissues of mouse treated with acrylamide monomer showed total vacuolation of spinal cord, cell degradation containing neuron and neuroglia, and distal nerve fiber degeneration. The electron micrographs showed ultrastrudural changes. Abnormal mitochondria in neuron, splitting of myelin sheath in lumbar ventral root nerve, partial disintergration of myelin sheath and axoplasmic degeneration in sciatic nerve, and overafl polyneuropathies in nervous system were observed. These results suggest that acrylarnide intoxicated mouse shows distal behavioral neuropathy as an earlist clinical sign, but the initial effect of acrylamide on the nervous system seems to appear at nearly the same time in both central and peripheral nervous systems.