• Journal of Yeungnam Medical Science
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• 제5권2호
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• pp.87-93
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• 1988

저자등은 최근 5년동안 본원 신경과 외래와 입원 환자중 CT상 특징적인 뇌교소노위축을 보이고 그에 따른 임상적 증상을 보인 OPCA 환자 12예에서 다음과 같은 결과를 얻었다. 1. 연령분포는 49세에서 72세이며 주로 50대에서 60대에 많았다. 성별분포는 암자에서 약 4.5배 더 빈발하였다. 가족력이 있는 것으로 추정이 되는 1예에서는 발병연령이 보다 빨랐다. 2. 증상의 발현부터 진단까지의 기간은 대부분 1년에서 6년 사이였다. 3. 초기증상으로는 현기증(58%), 운동실조(33%) 등이 흔하였고 그 외에도 지전, 하지무력감, 구음장애, 두통, 뇨실금 등이었다. 또 진단당시 임상적 특징으로는 소뇌기능장애(100%), 구음장애(83%), 심부건반사항진(58%) 등이 주요 소견이었다. 4. CT소견으로 소뇌홈은 전례에서 1mm이상 확장되어 있었고 4예에서는 2mm이었다. 소뇌뇌교뇌조의 폭은 대부분이 3mm 내지 4mm이며 2예에서는 5mm였다. 제 4 뇌실은 전후 직경이 4mm, 좌우직경이 4mm 내지 8mm까지 확장된 소견을 보였으며 전례에서 전뇌교뇌조와 사구외조의 확장이 나타났다. 6예에서는 대뇌위축도 동반 되었음이 발견되었다.

• 대한한방내과학회지
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• 제40권5호
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• pp.851-864
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• 2019

Multiple system atrophy is a neurodegenerative disease that causes diverse bodily dysfunctions (cerebellar, pyramidal, automatic, and urological, in any combination), as well as Parkinsonism. Patients with multiple system atrophy commonly display antecollis, a condition where the patient's head tilts forward more than 45 degrees. Despite its common occurrence in these patients, no current standardized therapies are effective for treating antecollis. In this study, Korean medicinal treatments, including Chuna manual therapy, pharmaco-acupuncture, bee venom acupuncture, acupuncture, herbal medicine, and moxibustion therapy, were administered to the patient over a 27-day period. After the treatment, assessments of the head position on the EPIS-PD scale (Part I) and at a standing position from the side (Part II) both revealed improvements. As the head flexion angle decreased, the patient's head posture improved, as determined by a decrease in angle from 80 degrees to 30 degrees in the upright, standing position. As a result, patients who previously were unable to walk without the support of walking frames could now roam freely and independently, with significant increases in both walking speed and distance. In essence, this study suggests that Korean medicine is an effective treatment for patients with multiple system atrophy who suffer from antecollis and gait disorders.

• Annals of Clinical Neurophysiology
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• 제9권2호
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• pp.102-104
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• 2007

Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia and slow saccades. A 40-year-old woman presented with progressive gait disturbance and ataxia over 15 years. Neurologic examination revealed scanning speech, ataxia, and hyporeflexia. Brain CT showed diffuse atrophy of the cerebellum. Electronystagmography demonstrated slowed saccades with normal accuracy and delayed latency. The diagnosis of SCA2 was confirmed by the genetic test. Documentation of slow saccades may help differentiation among SCA subgroups.

• Journal of Genetic Medicine
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• 제19권2호
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• pp.100-104
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• 2022

The gene encoding solute carrier family 9 member 6 (SLC9A6) on Xq26.3 is associated with Christianson syndrome (CS) mimicking Angelman syndrome. In CS, developmental and epileptic encephalopathy (DEE) appears in about 20%, and DEE with spike-and-wave activation in sleep (SWAS) is reported only in several cases. A 10-year-old boy with DEE showed multidrug resistant focal seizures from 6 months of age. He had progressive microcephaly, regression, global developmental delay without speech, hyperkinesia, and truncal ataxia; he had a long thin face, esotropia, and happy demeanor. Brain magnetic resonance imaging demonstrated cerebellar atrophy. Electroencephalogram at 7.5 years of age showed nearly continuous diffuse paroxysms in slow wave sleep. The seizures were responsive to corticosteroids for a while. Trio whole exome sequencing exhibited a likely pathogenic variant of SLC9A6 in the proband and his asymptomatic mother: c.1194dup (p.Leu399AlafsTer12). This is a rare case report of CS with DEE-SWAS in a Korean patient.

• Journal of Interdisciplinary Genomics
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• 제5권1호
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• pp.5-11
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• 2023

β-ureidopropionase (β-UP) is an enzyme that catalyzes the final step in the pyrimidine degradation pathway, which converts β-ureidopropionate and β-ureidoisobutyrate into β-alanine and β-aminoisobutyrate, respectively. β-UP deficiency (UPB1D; OMIM # 613161) is an extremely rare autosomal recessive inborn error disease caused by a mutation in the UPB1 gene on chromosome 22q11. To date, approximately 40 cases of UPB1D have been reported worldwide, including one case in Korea. The clinical manifestations of patients with UPB1D are known to be diverse, with a very wide range of manifestations being previously reported; these manifestations include completely asymptomatic, urogenital and colorectal anomalies, or severe neurological involvement, including global developmental delay, microcephaly, early onset psychomotor retardation with dysmorphic features, epilepsy, optic atrophy, retinitis pigmentosa, severely delayed myelination, and cerebellar hypoplasia. Currently, diagnosis of UPB1D is challenging as neurological manifestations, MRI abnormalities, and biochemical analysis for pyrimidine metabolites in the urine, plasma, and cerebrospinal fluid also need to be confirmed by UPB1 gene mutations. Overall, treatment of patients with UPB1D is palliative as there is still no definitive curative treatment available.

• 대한중풍순환신경학회지
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• 제21권1호
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• pp.67-76
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• 2020

■ Objectives The purpose of this case is to report the effectiveness of Korean medicine in the treatment of early stage multiple system atrophy-cerebellar ataxia(MSA-C) ■ Methods The patient was treated with acupuncture, bee venom, and herbal medicine. The clinical symptoms was assessed using unified multiple system atrophy rating scale(UMSARS) and 20M gait time and steps. ■ Results After treatment, UMSARS score and 20M gait time and steps showed improvement. ■ Conclusion This study suggested that Korean medical treatment could be an effective option for treating early stage MSA-C.

• 대한수의학회지
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• 제62권4호
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• pp.27.1-27.4
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• 2022

A 2-year-old spayed female Border Collie presented with visual deficits and behavioral changes. Neurological examination revealed bilateral menace response deficit with a normal pupil light reflex. Cerebral cortical thinning, cerebral sulci and cerebellar fissure widening, ventriculomegaly, and cerebral atrophy were observed on magnetic resonance imaging (MRI). Histopathology revealed fluorescent lipopigment accumulation in the cerebrum, and the dog was diagnosed with neuronal ceroid lipofuscinosis. This is the first case report describing the changes in clinical signs, MRI findings, and histopathologic changes in neuronal ceroid lipofuscinosis in Korea.

• Journal of Genetic Medicine
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• 제4권1호
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• pp.22-37
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• 2007

The autosomal dominant spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases, clinically and genetically heterogeneous, characterized by degeneration of spinocerebellar pathways with variable involvement of other neural systems. At present, 27 distinct genetic forms of SCAs are known: SCA1-8, SCA10-21, SCA23, SCA25-28, DRPLA (dentatorubral-pallidoluysian atrophy), and 16q-liked ADCA (autosomal dominant cerebellar ataxia). Epidemiological data about the prevalence of SCAs are restricted to a few studies of isolated geographical regions, and most do not reflect the real occurrence of the disease. In general a prevalence of about 0.3-2 cases per 100,000 people is assumed. As SCA are highly heterogeneous, the prevalence of specific subtypes varies between different ethnic and continental populations. Most recent data suggest that SCA3 is the commonest subtype worldwide; SCA1, SCA2, SCA6, SCA7, and SCA8 have a prevalence of over 2%, and the remaining SCAs are thought to be rare (prevalence <1%). In this review, we highlight and discuss the SCA7. The hallmark of SCA7 is the association of hereditary ataxia and visual loss caused by pigmentary macular degeneration. Visual failure is progressive, bilateral and symmetrical, and leads irreversibly to blindness. This association represents a distinct disease entity classified as autosomal dominant cerebellar ataxia (ADCA) type II by Harding. The disease affectsprimarily the cerebellum and the retina by the moderate to severe neuronal loss and gliosis, but also many other central nervous system structures as the disease progresses. SCA7 is caused by expansion of an unstable trinucleotide CAG repeat in the ATXN7 gene encoding a polyglutamine (polyQ) tract in the corresponding protein, ataxin-7. Normal ATXN7 alleles contain 4-35 CAG repeats, whereas pathological alleles contain from 36->450 CAG repeats. Immunoblott analysis demonstrated that ataxin-7 is widely expressed but that expression levels vary among tissues. Instability of expanded repeats is more pronounced in SCA7 than in other SCA subtypes and can cause substantial lowering of age at onset in successive generations termed ‘anticipation’ so that children may become diseased even before their parents develop symptoms. The strong anticipation in SCA7 and the rarity of contractions should have led to its extinction within a few generations. There is no specific drug therapy for this neurodegenerative disorder. Currently, therapy remains purely symptomatic. Cellular models and SCA7 transgenic mice have been generated which constitute valuable resources for studying the disease mechanism. Understanding the pathogenetic mechanisms of neurodegeneration in SCAs should lead to the identification of potential therapeutic targets and ultimately facilitate drug discovery. Here we summarize the clinical, pathological, and genetic aspects of SCA7, and review the current understanding of the pathogenesis of this disorder. Further, we also review the potential therapeutic strategies that are currently being explored in polyglutamine diseases.

• 대한소아신경학회지
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• 제25권3호
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• pp.200-203
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• 2017

척수소뇌실조는 임상적으로 다양하게 나타나는 보통염색체 우성신경변성 (혹은 퇴행성) 질환군으로서, 소뇌의 들과 날의 경로를 분열시켜 소뇌 실조를 일으키는 것으로 알려져 있다. 전형적인 임상증상은 30에서 40대에 발현되기 시작하고, 보행실조, 불분명 발음, 시력 이상, 사지의 조화운동 불능, 안구 움직임 제한, 인지 장애 등 다양한 증상의 조합을 특징으로 한다. 본 증례의 환아에서는 exome sequencing을 통하여 SPTBN2 (p.Glu1251Gln)의 새로운 이형접합 돌연변이를 발견하였으며 이것이 SCA5의 원인으로 밝혀졌다. 증례의 환아는 3년 5개월 때 발달지연을 주소로 본원에 내원하였다. 발달지연을 평가하기 위해 베일리 발달 검사에서 모든 영역에서 현저한 지연이 확인되었다. 본원 내원 1년 전 시행한 뇌자기공명영상에서 백샐질형성장애와 약간의 소뇌 위축이 보였다. 잠재적인 유전질환을 의심하여 진단 목적으로 전체엑솜염기서열분석을 시행하였고 결과적으로 SPTBN2의 새로운 이형접합 돌연변이 (p.Glu1251Gln) 가 SCA5의 원인 돌연변이로 사료된다. 척수소뇌실조에서 유전자의 역할을 명확하게 규명하기 위해서는 전체엑솜염기서열 분석을 포함한 다양한 방법을 통한 유전자 연구가 필요할 것으로 사료된다.

• 대한영상의학회지
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• 제81권4호
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• pp.979-984
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• 2020

묘성증후군은 드문 유전자 결손 증후군으로, 환아는 후두 및 후두개의 기형과 신경학적 구조적 이상으로 인해 특징적인 높은 톤의 단조로운 울음소리를 내고 반복적인 흡인성 폐렴을 앓는다. 이전 보고된 증례들의 뇌 자기공명영상 소견을 정리한 결과 교뇌 저형성이 가장 뚜렷하였고, 소뇌 저형성이 동반되기도 하여 주로 후두개와의 이상 소견을 보였다. 천막상부 구조물의 위축도 자주 관찰되었는데 이것은 교뇌 저형성에 의한 이차적인 변화로 생각되었다. 본원에서 확진된 3개월 환아 또한 교뇌 저형성이 두드러져 이전 보고된 증례들과 거의 유사하였으나 수초화 양상에서 내섬유막 전완의 수초화 감소가 아니라 전반적인 수초화의 지연이 관찰되었다는 점에서 타 증례와 차이가 있었다. 후두, 교뇌, 소뇌는 비슷한 척삭에서 유래하므로, 묘성증후군에서 생기는 후두 및 뇌의 구조적 이상은 발생 초기의 이상임을 시사한다.