• 대한한방내과학회지
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• 제22권4호
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• pp.723-728
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• 2001

Wernicke Disease is well known of nutriotional disorders Wernicke Disease is charaterized by ataxia, confusion and oculomotor disturbance. We diagnosis one patient, who has ataxia, confusion and oculomotor disturbance as Jusang(酒傷), and gave saenggangunbi-tang, bojungchiseub-tang and samchulgunbi-tang. We observed that clinical symptom and Liver function were improved by these herbal medicine Therefore We consider Wernicke Disease as Jusang(酒傷) and further reports with many case, however, will be needed.

• Journal of Korean Neurosurgical Society
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• 제59권3호
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• pp.314-318
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• 2016

Posterior fossa is a site next to the middle fossa where arachnoid cyst frequently occurs. Generally, most arachnoid cysts are asymptomatic and are found incidentally in most cases. Although arachnoid cysts are benign and asymptomatic lesions, patients with posterior fossa arachnoid cysts often complain of headaches, gait disturbance, and ataxia due to the local mass effects on the cerebellum. We observed a patient with a posterior fossa arachnoid cyst who had visual symptoms and a headache, but did not have gait disturbance and ataxia. We recommended an emergency operation for decompression, but the patient refused for personal reasons. After 7 days, the patient revisited our hospital in a state of near-blindness. We suspected that the arachnoid cyst induced the hydrocephalus and thereby the enlarged third ventricle directly compressed optic nerves. Compressed optic nerves were rapidly aggravated during the critical seven days; consequently, the patient's vision was damaged despite the operation. Considering the results of our case, it is important to keep in mind that the aggravation of symptoms cannot be predicted; therefore, symptomatic arachnoid cysts should be treated without undue delay.

• 대한한방내과학회지
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• 제39권5호
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• pp.1042-1051
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• 2018

Objectives: This study evaluates the effect of Korean medicine in a patient with multiple system atrophy-C (MSA-C). Methods: A patient diagnosed with MSA-C was treated with herbal medicine (Boyangwhano-tang hap Yeokgan-san), acupuncture, and moxibustion for 8 weeks. Clinical improvements were evaluated by the unified MSA rating scale (UMSARS) and the scale for the assessment and rating of ataxia (SARA). Results: Improvements in the total scores of UMSARS Part I, II, and IV and SARA were observed after Korean medicine treatments. However, there were no improvements to the urinary and autonomic dysfunctions. Conclusions: Korean medicine treatment may be an effective treatment for a degenerative, progressive disease like MSA-C.

• Annals of Clinical Neurophysiology
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• 제8권1호
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• pp.94-97
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• 2006

Bickerstaff's brainstem encephalitis (BBE) is a rare disorder with acute ophthalmoparesis, ataxia, consciousness disturbance, and pyramidal signs of suspected autoimmune origin. A-62-year-old woman developed acute diplopia, dysarthria, gaze-paretic nystagmus and gait ataxia. Her mental status fell subsequently into stupor. Brain MRI and nerve conduction study showed no significantly abnormal findings. Electroencephalography revealed diffuse low voltage slowings. After treating with intravenous immunoglobulin, she demonstrated rapid clinical recovery. This case suggests that immunoglobulin can be an alternative option in BBE treatment, especially when plasmapheresis and corticosteroids are difficult or contraindicated.

• Molecules and Cells
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• 제19권1호
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• pp.23-30
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• 2005

Spinocerebellar ataxia type 1 (SCA1) is an autosomal-dominant neurodegenerative disorder caused by expansion of the polyglutamine tract in the SCA1 gene product, ataxin-1. Using d2EGFP, a short-lived enhanced green fluorescent protein, we investigated whether polyglutamine-expanded ataxin-1 affects the function of the proteasome, a cellular multicatalytic protease that degrades most misfolded proteins and regulatory proteins. In Western blot analysis and immunofluorescence experiments, d2EGFP was less degraded in HEK 293T cells transfected with ataxin-1(82Q) than in cells transfected with lacZ or empty vector controls. To test whether the stability of the d2EGFP protein was due to aggregation of ataxin-1, we constructed a plasmid carrying $ataxin-1-{\Delta}114$, lacking the self-association region (SAR), and examined degradation of the d2EGFP. Both the level of $ataxin-1-{\Delta}114$ aggregates and the amount of d2EGFP were drastically reduced in cells containing $ataxin-1-{\Delta}114$. Furthermore, d2EGFP localization experiments showed that polyglutamine-expanded ataxin-1 inhibited the general function of the proteasome activity. Taken together, these results demonstrate that polyglutamine-expanded ataxin-1 decreases the activity of the proteasome, implying that a disturbance in the ubiquitin-proteasome pathway is directly involved in the development of spinocerebellar ataxia type1.

• Molecules and Cells
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• 제24권3호
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• pp.338-342
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• 2007

Spinocerebellar ataxias (SCAs) are caused by expansion of (CAG)n triplet repeats. These repeats occur as polymorphic forms in general population; however, beyond a threshold size they become pathogenic. The sizes and distributions of repeats at the SCA1, SCA2, SCA3, SCA7 and DRPLA loci were assessed by molecular analysis of 124 unrelated ataxia patients and 44 controls, and the association of larger normal (LN) alleles with disease prevalence was evaluated. Triplet repeat expansions in the disease range were detected in 8% (10/124) of the cases, with the majority having expansion at the SCA1 locus. Normal allele ranges in the cohort studied were similar to the Caucasian and North Indian populations but differed from the Korean and Japanese populations at various loci. The percentage of individuals with LN alleles at the SCA1 and SCA2 loci was higher than reported in Indians, Japanese and Caucasians. LN alleles showed a good correlation with the incidence of SCA1, indicating that SCA1 is the most prevalent ataxia in our population. The majority of cases with clinical symptoms of SCA could not be diagnosed by established CAG repeat criteria, suggesting that there may be an alternative basis for disease pathogenesis: (i) Repeats lower than the normal range may also result in abnormal phenotypes (ii) LN alleles at different loci in the same individual may contribute to symptoms (iii) Exogenous factors may play a role in triggering disease symptoms in individuals with LN alleles (iv) Triplet repeats may reach the disease range in the brain but not in the blood.

• 한국임상수의학회지
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• 제23권3호
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• pp.340-343
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• 2006

10년령의 암컷 비글 견이 우측으로의 사경과 중등도의 보행실조가 급성으로 발병하여 내원하였다. 12일 전에 임상증상이 나타났으며, 이는 내원 일까지 점진적으로 호전되고 있는 상태였다. 환견은 활발하고 의식이 명료하며 외부자극에 잘 반응하였다. 신경 검사 상에서 약간의 우측으로의 사경과 보행실조가 관찰되었고 따라서 전정계 질환을 의심할 수 있었다. 임상증상, 자기공명영상, 그리고 뇌척수액 검사를 통해서 중추성 전정계 질병을 감별하였다. 검이경 검사를 통해서 고막의 존재와 정상 형태를 확인하였다. 방사선 및 자기공명영상 검사상에서 고실불룩과 측두골의 암석부분에서 이상소견을 발견할 수 없었다. 갑상선 자극 호르몬 자극 시험을 통해서 갑상선 기능 저하증을 감별하였다. 임상증상은 퇴원 2주 후 완전히 사라졌다. 따라서 임상증상, 전정계 기능이상을 유발하는 다른 원인들의 감별, 그리고 시간에 따른 증상의 완화를 통해서 특발성 전정계 질병으로 진단 할 수 있었다.

• Journal of Genetic Medicine
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• 제12권1호
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• pp.38-43
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• 2015

Purpose: Spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders with diverse modes of inheritance. There are several subtypes of SCAs. SCA 8, SCA 12, and SCA 17 are the less common forms of SCAs with limited information available on their epidemiological profiles in Korea. The purpose of this study was to investigate the prevalence of SCA8, SCA12, and SCA17 in Korea. Materials and Methods: Ninety-six unrelated Korean patients were enrolled and showed normal trinucleotide repeats through polymerase-chain reaction (PCR) for the genes ATXN1, ATXN2, ATXN3, CACNA1A, and ATXN7, which correspond to SCA1, SCA2, SCA3, SCA6, and SCA7, respectively. PCR products from patients were further analyzed by capillary electrophoresis using fluorescence labeled primers for the genes ATXN8OS, PPP2R2B, and TBP, which correspond to SCA8, SCA12, and SCA17. Results: Three patients had 104, 97, and 75 abnormal expanded repeats in the ATXN8OS gene, the causative gene for SCA8. None of the patients exhibited abnormal repeats in SCA12 and SCA17. Normal trinucleotide repeat ranges of the cohort in this study were estimated to be 17-34 copies (average, $24{\pm}4copies$) for SCA8, 7-18 copies (average, $13{\pm}3copies$) for SCA12, and 26-43 copies (average, $35{\pm}2copies$) for SCA17. Conclusion: This study demonstrated that SCA8, SCA12, and SCA17 are rare in Korean patients with SCA, and further genetic studies are warranted to enhance the mutation detection rate in the Korean SCA population.

• Journal of Genetic Medicine
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• 제4권1호
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• pp.84-87
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• 2007

척수소뇌성 실조증3는 신경세포의 손상으로 인해 생기는 질병으로 염색체14q32.1지역에 반복적인 CAG 삼염기 서열이 증가하면서 일어나는 것으로 알려져 있다. 본 증례는 척수소뇌성 실조증3으로 진단을 받은 부부에서 자연 임신한 태아를 산전진단한 경우로서 형광으로 포식된 표지자를 이용하여 CAG 지역을 증폭하여 빠르고 정확하게 반복수를 확인하는 방법을 이용하였다. 남편의 경우 CAG반복을 넘는 69개의 반복과 정상인 27개의 반복된 유전자를 갖고 있는 것으로 확인하였으며, 산모의 경우 정상인 26과 32개의 반복된 유전자를 갖고 있는 것으로 확인하였다. 태아는 부계의 27과 모계의 26개를 갖는 정상 유전자를 물려 받은 것으로 확인되어 건강한 아기를 분만하였다. 형광을 이용한 진단방법은 방사능을 사용하는 방법에 비해 안전하고 빠른 진단을 할 수 있으며 시료 채취 후 5-6시간 안에 정확하게 결과를 확인할 수 있는 방법이라 생각된다.

• 한국콘텐츠학회논문지
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• 제18권11호
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• pp.634-642
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• 2018

소뇌운동실조증(SCA)은 유전성, 진행성 신경장애로 SCA 환자는 소뇌위축으로 인한 실조형 마비말장애를 보인다. 본 연구는 집중 말운동치료를 통해 SCA환자의 진행성 실조형 마비말장애의 개선의 유무를 확인하고, 개선이 있는 경우, 치료전후의 변화의 정도를 보고하고자 한다. 55세의 SCA 여성 환자를 대상으로 말운동 기능 개선을 위한 SPEAK $OUT!^{(R)}$ 치료프로그램을 시행 후, 큰 효과크기 수준에서 MPT와 과제별 음량의 개선이 관찰되었고, 음도의 경우 적은 효과크기의 변화를 보였다. 그러나 음도의 폭은 큰 효과크기의 변화를 보였다. 음질은 jitter, shimmer, HNR 모두에서 큰 효과크기 수준에서 긍정적 개선을 보였고, 모음면적도 넓어졌는데 이때 F1의 변화가 두드러졌다. 또한 심도 수준의 VHI점수는 치료 후 경도 수준으로 낮아졌다. 집중 말운동치료 프로그램인 SPEAK $OUT!^{(R)}$의 시행을 통해 SCA 환자의 음량, 음도, 음도의 폭, 음질, 모음면적의 증가를 관찰하였고, 음성장애에 관한 주관적 인식의 변화도 긍정적으로 감소하였다. 기초연구로서의 본 결과를 바탕으로 SCA환자의 진행성 실조형 마비말장애 개선을 위한 SPEAK $OUT!^{(R)}$에 대한 좀 더 체계적인 검증을 위한 후속 연구가 필요하다.