• The Journal of Internal Korean Medicine
• /
• v.37 no.2
• /
• 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
• /
• v.9 no.2
• /
• 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.

• Journal of the Korean Child Neurology Society
• /
• v.25 no.3
• /
• pp.200-203
• /
• 2017

Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative disorders which disrupt the afferent and efferent pathways of the cerebellum that cause cerebellar ataxia. Spectrin beta non-erythrocytic 2 (SPTBN2) gene encodes the ${\beta}-III$ spectrin protein with high expression in Purkinje cells that is involved in excitatory glutamate signaling through stabilization of the glutamate transporter, and its mutation is known to cause spinocerebellar ataxia type 5. Three years and 5 months old boy with delayed development showed leukodystrophy and cerebellar atrophy in brain magnetic resonance imaging (MRI). Diagnostic exome sequencing revealed that the patient has heterozygous mutation in SPTBN2 (p.Glu1251Gln) which is a causative genetic mutation for spinocerebellar ataxia type 5. With the patient's clinical findings, it seems reasonable to conclude that p.Glu1251Gln mutation of SPTBN2 gene caused spinocerebellar ataxia type 5 in this patient.

• The Journal of Internal Korean Medicine
• /
• v.42 no.5
• /
• 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.

• The Journal of Internal Korean Medicine
• /
• v.39 no.5
• /
• 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
• /
• v.19 no.2
• /
• 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.

• Journal of Physiology & Pathology in Korean Medicine
• /
• v.27 no.6
• /
• 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
• /
• v.27 no.6
• /
• 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.

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

• Journal of Genetic Medicine
• /
• v.18 no.2
• /
• 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.