• 대한한방내과학회지
• /
• 제37권2호
• /
• pp.322-329
• /
• 2016

Objective: This study reports on one clinical case of type 3 spinocerebellar ataxia (SCA) to examine the effectiveness of herbal medicine and traditional Korean treatments.Methods: A patient with type 3 spinocerebellar ataxia was treated using traditional Korean medicine options such as acupuncture and Hyangsayukgunja-tang. The effects on type 3 spinocerebellar ataxia were measured using the numeric rating scale (NRS) and ambulatory status.Results: Improvements in NRS and ambulatory status were observed after treatment.Conclusion: According to this study, traditional Korean medicine may be effective in the treatment of type 3 spinocerebellar ataxia.

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

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

• 대한한방내과학회지
• /
• 제42권5호
• /
• pp.784-792
• /
• 2021

Objectives: The purpose of this study was to investigate a case of a patient with spinocerebellar ataxia (SCA) type 2 whose condition improved following treatment with Korean medicine. Methods: A 25-year-old man, diagnosed with SCA type 2, was treated with herbal medicine (Yukmijiwhang-tang-gami), acupuncture, and physical treatment. The therapeutic effect was evaluated using the Berg Balance Scale (BBS) and gait status. Results: Following treatment, the BBS score increased, and gait ataxia improved. Conclusions: This case study suggests that Korean medicine could be effective for relieving symptoms of SCA type 2.

• 대한한방내과학회지
• /
• 제39권5호
• /
• pp.994-1003
• /
• 2018

Objective: The aim of this study was to report a clinical case suggesting the potential effects of traditional Korean medicine for the treatment of sporadic spinocerebellar ataxia in a patient with herniated intervertebral lumbar discs. Methods: The patient was treated with a series of Korean medicine treatments including the herbal medicine Zhenganxifeng-tang-gagam, acupuncture, pharmacoacupuncture, and electroacupuncture along with herniated intervertebral lumbar disc treatments. Results: Improvements of Numeric rating scale (NRS) and European Quality of Life-5 Dimensions (EQ-5D) score were observed after the treatment. Conclusion: Traditional Korean medicine has potential benefits for sporadic spinocerebellar ataxia patients with herniated intervertebral lumbar discs.

• Korean Journal of Acupuncture
• /
• 제19권2호
• /
• pp.79-85
• /
• 2002

Objective : In 1983 Autosomal dominent spinocerebellar ataxia(ADCA) has been classified to four types by a useful clinical features according to Harding. Since 1993 ADCA referred to as SCA by molecular genetic characteristics. We focused on the improvement of clinical symptoms in SCA patient through oriental medical treatment. Methods ＆ Results : The assessment included neurophysiological examination and clinical symptoms. For example slow saccade, gaze limitation, upward and lateral, nystagmus, truncal and gait ataxia. The patient(M/30) was clinically charaterized by ocular abnormalities, trunkal and gait ataxia and the MRI showed atrophy of cerebellar vermis. The patient was taken both common acupuncture and Dong-Si venepuncture on Hwasan with herbal medicine. Before the treatment Rt. ocular movement were slowed and a significant eye fixation was observed always in abduction and intermittently presented trunkal and gait ataxia. During the treatment trunkal and gait ataxia has not been presented and ocular obnomalities changed to normal state. This case suggests the possibility of oriental medical treatment on SCA but further observation is needed on this patient.

• 동의생리병리학회지
• /
• 제27권6호
• /
• pp.842-846
• /
• 2013

The purpose of this study was to report one clinical case of spinocerebellar ataxia(SCA) type 1 improved by herbal medicine and oriental medical treatment. As a treatment, Yukmijihwang-tang(Liuweidihuangtang)-gamibang, acupuncture, and moxa were tried upon the patient for 21 days in order to relieve the symptoms. In terms of observing the changes of symptoms, the progress of patient's condition was evaluated periodically by using the Korean-mini mental state examination(K-MMSE), Modified Barthel Index(MBI), Functional Independence Measure(FIM). In accordance with the observation under K-MMSE, MBI, FIM, the patient's symptoms had gradually improved throughout the treatment. Therefore, this report suggests that Yukmijihwang-tang(Liuweidihuangtang)-gamibang, acupuncture and moxa were probably effective in the treatment of SCA type 1.

• Molecules and Cells
• /
• 제27권6호
• /
• pp.621-627
• /
• 2009

Spinocerebellar ataxia type 1 (SCA1) is an autosomal-dominant neurodegenerative disorder characterized by ataxia and progressive motor deterioration. SCA1 is associated with an elongated polyglutamine tract in ataxin-1, the SCA1 gene product. As summarized in this review, recent studies have clarified the molecular mechanisms of SCA1 pathogenesis and provided direction for future therapeutic approaches. The nucleus is the subcellular site where misfolded mutant ataxin-1 acts to cause SCA1 disease in the cerebellum. The role of these nuclear aggregates is the subject of intensive study. Additional proteins have been identified, whose conformational alterations occurring through interactions with the polyglutamine tract itself or non-polyglutamine regions in ataxin-1 are the cause of SCA-1 cytotoxicity. Therapeutic hope comes from the observations concerning the reduction of nuclear aggregation and alleviation of the pathogenic phenotype by the application of potent inhibitors and RNA interference.

• 대한한방소아과학회지
• /
• 제19권2호
• /
• pp.41-50
• /
• 2005

저자는 Brain MRI 상 Cerebellar atrophy로 인한 척수소뇌성 운동실조증으로 진단받은 6세 환아의 Ataxia, Dysarthria, 두부진전증(頭部振顫症), 안진(眼振) 등에 대해 한방적 치료 후 호전도가 있었기에 이에 증례보고(證例報告)하는 바이다. 특히 두진(頭振), 안진(眼振)과 같은 진전(振顫)질환과 실조증에 대하여 두침(頭鍼)시술이 유효성이 컸으며, 오지(五遲) 오연증(五軟證)에 대하여서 간(肝), 신정격(腎正格)과 육미지황탕(六味地黃湯)의 장기 투여가 효과가 있었다. 일반적인 SCA, ADCA가 청, 장년기 이후에 발생하고 유전적인 경향이 큰 것에 반해 재태(在胎)시 큰 이상없이 생후 특발적으로 발생한 척수 소뇌성 운동실조에 대하여서는 한방적으로 증례보고(證例報告) 된 바가 드문 실정으로 유, 소아의 이러한 질환에 대한 진일보된 연구과 함께 평가척도나 치료방법적인 면에서의 고찰(考察)이 더욱 필요하리라 사료된다.

• Journal of Genetic Medicine
• /
• 제18권2호
• /
• pp.127-131
• /
• 2021

Autosomal recessive spinocerebellar ataxia 20 (SCAR20; OMIM #616354) is a recently described disorder that is characterized by ataxia, intellectual disability, cerebellar atrophy, macrocephaly, coarse face, and absent speech. It is caused by loss-of-function mutations in SNX14. To date, all cases with homozygous pathogenic variants have been identified in consanguineous families. This report describes the first Korean cases of SCAR20 family caused by homozygous variants in SNX14. Two siblings were referred to our clinic because of severe global developmental delay. They presented similar facial features, including a high forehead, long philtrum, thick lips, telecanthus, depressed nasal bridge, and broad base of the nose. Because the older sibling was unable to walk and newly developed ataxia, repeated brain magnetic resonance imaging (MRI) was performed at the age of 4 years, revealing progressive cerebellar atrophy compared with MRI performed at the age of 2 years. The younger sibling's MRI revealed a normal cerebellum at the age of 2 years. Whole-exome sequencing was performed, and homozygous variants, such as c.2746-2A>G, were identified in SNX14 from the older sibling. Sanger sequencing confirmed homozygous SNX14 variants in the two siblings as well as a heterozygous variant in both parents. This report extends our knowledge of the phenotypic and mutational spectrum of SCAR20. We also highlight the importance of deep phenotyping for the diagnosis of SCAR20 in individuals with developmental delay, ataxia, cerebellar atrophy, and distinct facial features.