• Investigative Magnetic Resonance Imaging
• /
• 제22권2호
• /
• pp.119-122
• /
• 2018

Neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome is a rare maternally inherited mitochondrial disorder. Radiologic findings in NARP syndrome are varied; they include cerebral and cerebellar atrophy, basal ganglia abnormalities, and on rare occasions, leukoencephalopathy. This article describes an extremely rare case of NARP syndrome mimicking mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).

• Journal of Acupuncture Research
• /
• 제37권3호
• /
• pp.181-186
• /
• 2020

This case study reports the effect of Korean medicine treatments on a 73 year-old female who had a cerebellar infarction. She was hospitalized for 120 days (without visiting Western medicine hospital) where she was treated with acupuncture, herbal decoction, pharmacopuncture, chuna, moxibustion and physiotherapy. Following treatment, her symptoms of dizziness were evaluated using the numeric rating scale and showed pain had reduced (3 to 0). The K-Modified Barthel, showed that life performance had improved (15 to 74), and the Berg balance scale showed an improved balance (2 to 32). Steps per minute and gait posture at stance phase for ataxia also showed improvement. This case report shows that Korean medicine treatment is effective in alleviating dizziness and improved gait instability caused by cerebellar infarction.

• 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.

• Journal of Genetic Medicine
• /
• 제17권2호
• /
• pp.92-96
• /
• 2020

Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS) is an autosomal-dominant, extremely rare neurodevelopmental disorder caused by the heterozygous EBF3 gene mutation. EBF3 is located on chromosome 10q26.3 and acts as a transcription factor that regulates neurogenesis and differentiation. This syndrome is characterized by dysmorphism, cerebellar hypoplasia, urogenital anomaly, hypotonia, ataxia, intellectual deficit, and speech delay. The current report describes a 3-year-old Korean male carrying a de novo EBF3 mutation, c.589A>G (p.Asn197Asp), which was identified by whole exome sequencing. He manifested facial dysmorphism, hypotonia, strabismus, vermis hypoplasia, and urogenital anomalies, including vesicoureteral reflux, cryptorchidism, and areflexic bladder. This is the first report of a case of HADDS cause by an EBF3 mutation in the Korean population.

• PNF and Movement
• /
• 제14권2호
• /
• pp.149-155
• /
• 2016

Purpose: The purpose of this study was to investigate the effects of using proprioceptive neuromuscular facilitation (PNF) exercise in the progressive sitting position on the dynamic balance ability of a patient with a cerebellar injury. Methods: The subject had ataxia due to cerebellar injury. The subject participated in a PNF bilateral scapular pattern exercise with stabilizing reversal technique during a progressive sitting position session as well as baseline for 20 minutes a day for 4 weeks. In the first session, PNF exercises were performed at a height of 40 cm for 10 minutes, and in the second session they were performed at 50 cm for 10 minutes from a lower center of gravity (COG) to a higher COG sitting position. We used the Berg Balance Scale (BBS), Five-Times-Sit-to-Stand Test (FTSST), and the Timed Up and Go Test (TUGT) to measure the subject's dynamic balance ability every two days through the entire session. Results: After participating in the program, the subject's dynamic balance ability improved compared to the first baseline, as measured by BBS (2 points increased), FTSST (5.3 sec decreased), and TUGT (2 sec decreased). The increase was also maintained in the second baseline session. Conclusion: PNF exercise using bilateral scapula patterns with a stabilizing reversal technique helps to enhance the dynamic balance ability of a cerebellar injury patient.

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

• PNF and Movement
• /
• 제14권3호
• /
• pp.237-244
• /
• 2016

Purpose: This case report examines the influence of proprioceptive neuromuscular facilitation (PNF) combined with a dynamic neuromuscular stabilization approach on balance in patients with cerebellar atrophy. Methods: The target subject of this case report was a 34-year-old woman who was informed of the purpose of this research and voluntarily agreed to participate in it. The case report conformed to research ethics based on the Helsinki Declaration. The target subject was confirmed to have cerebellar atrophy from an unknown cause in 2009 and was diagnosed with slight ataxia. At that time, she could carry out daily activities without physical therapy. On May 19, 2015, she suffered both a subdural hemorrhage (SDH) and subarachnoid hemorrhage (SAH) in a traffic accident. She was urgently moved to the emergency room and managed by nonsurgical treatment, and then, the cerebellar atrophy and ataxia gradually deteriorated. To evaluate the patient's balance capacity before and after intervention, the trunk impairment scale (TIS), trunk impairment scale (OLST) during eye-closing/opening, timed up and go test (TUG), and visual analogue scale (VAS) were conducted. The PNF intervention program was executed for 30 min, four times a week, for three weeks. Results: The TIS and OLST during eye-closing/opening were improved by as much as a point, by 8.15 s and 6.21 s, respectively, after applying the PNF program. TUG and VAS decreased by 1.33 s and 3 points, respectively, after intervention. According to the result, the OLST during eye-closing/opening and VAS improved remarkably in comparison with those before intervention. Conclusion: As the final result of the case report, PNF intervention combined with DNSA more effectively improved the static balance capacity, such as the OLST during eye-closing/opening and VAS, compared to the dynamic balance capacity. In addition, the intervention duration and period of the exercise program are recommended to be more than 1 h a day for four weeks considering the learning ability of a patient with cerebellar atrophy.

• BMB Reports
• /
• 제56권5호
• /
• pp.308-313
• /
• 2023

Phenotypic features such as ataxia and loss of motor function, which are characteristics of Parkinson's disease (PD), are expected to be very closely related to cerebellum function. However, few studies have reported the function of the cerebellum. Since the cerebellum, like the cerebrum, is known to undergo functional and morphological changes due to neuroinflammatory processes, elucidating key functional factors that regulate neuroinflammation in the cerebellum can be a beneficial therapeutic approach. Therefore, we employed PD patients and MPTP-induced PD mouse model to find cytokines involved in cerebellar neuroinflammation in PD and to examine changes in cell function by regulating related genes. Along with the establishment of a PD mouse model, abnormal shapes such as arrangement and number of Purkinje cells in the cerebellum were confirmed based on histological finding, consistent with those of cerebellums of PD patients. As a result of proteome profiling for neuroinflammation using PD mouse cerebellar tissues, fetuin-A, a type of cytokine, was found to be significantly reduced in Purkinje cells. To further elucidate the function of fetuin-A, neurons isolated from cerebellums of embryos (E18) were treated with fetuin-A siRNA. We uncovered that not only the population of neuronal cells, but also their morphological appearances were significantly different. In this study, we found a functional gene called fetuin-A in the PD model's cerebellum, which was closely related to the role of cerebellar Purkinje cells of mouse and human PD. In conclusion, morphological abnormalities of Purkinje cells in PD mice and patients have a close relationship with a decrease of fetuin-A, suggesting that diagnosis and treatment of cerebellar functions of PD patients might be possible through regulation of fetuin-A.

• 대한한방내과학회지
• /
• 제38권2호
• /
• pp.246-251
• /
• 2017

In this study, a 54-year-old female woman diagnosed as Multiple System Atrophy (MSA) presented diplopia with other symptoms - gait disturbance, ataxia, sleep apnea, dysuria. She had been cared with Korean medical treatment - Herbal medicine, acupuncture, bee venom acupuncture, electroacupuncture, cupping, moxa. Notable improvement was observed in diplopia expressing time and Unified Multiple System Atrophy Rating Scale (UMSARS). For MSA patient with no typical treatment indispensable, Korean medical treatment may be effective.

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