• Journal of Medicine and Life Science
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• v.17 no.3
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• pp.65-73
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• 2020

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disease of the cerebral small blood vessels caused by mutations in the NOTCH3 gene on chromosome 19. Although CADASIL was known as a rare disease, recent research has suggested that the NOTCH variants could be found frequently even in the general population. The main clinical features included recurrent stroke, migraine, psychiatric symptoms, and progressive cognitive decline. On brain magnetic resonance imaging, patients with CADASIL showed multifocal white matter hyperintensity lesions, lacunar infarcts, microbleeds, and brain atrophy. Among them, lacunar infarcts and brain atrophy are important in predicting the clinical outcomes of patients with CADASIL. In the Jeju National University Hospital, we have diagnosed 213 CADASIL patients from 2004 to 2020. Most NOTCH3 mutations were located in exon 11 (94.4%), and p.Arg544Cys was the most common mutation. The mean age at diagnosis was 61.0±12.8 years. The most common presenting symptoms were ischemic stroke (24.4%), followed by cognitive impairment(15.0%), headache (8.9%), and dizziness(8.0%). Although the exact prevalence of CADASIL in Jeju is still unknown, the disease prevalence could be as high as 1% of the population considering the prevalence reported in Taiwan. Therefore, it is necessary to discover efficient biomarkers and genetic tests that can accurately screen and diagnose patients suspected of having CADASIL in this region. Ultimately, it is urgent to explore the exact pathogenesis of the disease to identify leading substances of treatment potential, and for this, multi-disciplinary research through active support from the Jeju provincial government as well as the national government is essential.

• The Journal of Korean Medicine
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• v.21 no.4
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• pp.286-291
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• 2000

Behcet's disease is a systemic disease affecting multiple organs including the central nervous system. Neuro-Behcet's disease was regarded as relatively rare, but thanks to the development of diagnostic tools, more and more cases are being reported. We are reporting a case of neuro-Behcet's disease in which the patient displayed paraparesis, dysarthria and involuntary tremor as neurologic symptoms. The patient's brain MRI showed cerebellar atrophy, and a spinal cord MRI failed to reveal any significant lesions. The patient experienced a couple of fever attacks during hospitalization, which were managed adequately by herbal medicines. Her main neurological symptoms such as paraparesis were, however, grossly unchanged at discharge.

• Clinical and Experimental Pediatrics
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• v.46 no.3
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• pp.295-301
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• 2003

Glutaric aciduria type 1(GA1) is an autosomal recessive disorder of the lysine, hydroxylysine and tryptophan metabolism caused by the deficiency of mitochondrial glutaryl-CoA dehydrogenase. This disease is characterized by macrocephaly at birth or shortly after birth and various neurologic symptoms. Between the first weeks and the 4-5th year of life, intercurrent illness such as viral infections, gastroenteritis, or even routine immunizations can trigger acute encephalopathy, causing injury to caudate nucleus and putamen. But intellectual functions are well preserved until late in the disease course. We report a one-month-old male infant with macrocephaly and hypotonia. In brain MRI, there was frontotemporal atrophy(widening of sylvian cistern). In metabolic investigation, there were high glutarylcarnitine level in tandem mass spectrometry and high glutarate in urine organic acid analysis, GA1 was confirmed by absent glutaryl-CoA dehydrogenase activity in fibroblast culture. He was managed with lysine free milk and carnitine and riboflavin. He developed well without a metabolic crisis. If there is macrocephaly in an infant with neuroradiologic sign of frontotemporal atrophy, GA1 should have a high priority in the differential diagnosis. Because current therapy can prevent brain degeneration in more than 90% of affected infants who are treated prospectively, recognition of this disorder before the brain has been injured is essential for treatment.

• Fisheries and Aquatic Sciences
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• v.25 no.3
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• pp.117-139
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• 2022

Synucleinopathies such as Parkinson's disease (PD) are incurable neurodegenerative conditions characterised by the abnormal aggregation of α-synuclein protein in neuronal cells. In PD, fibrillary synuclein aggregation forms Lewy bodies and Lewy neurites in the substantia nigra and cortex on the brain. Dementia with Lewy bodies and multiple system atrophy are also associated with α-synuclein protein abnormalities. α-synuclein is one of three synuclein proteins, and while its precise function is still unknown, one hypothesis posits that α-synuclein propagates from the enteric nervous system through the vagus nerve and into the brain, resulting in synucleinopathy. Studies on synucleinopathies should thus encompass not only the central nervous system but must necessarily include the gut and microbiome. The zebrafish (Danio rerio) is a well-established model for human neuronal pathologies and have been used in studies ranging from genetic models of hereditary disorders to neurotoxin-induced neurodegeneration as well as gut-brain-axis studies. There is significant genetic homology between zebrafish and mammalian vertebrates which is what makes the zebrafish so amenable to modelling human conditions but in the case of synucleinopathies, the zebrafish notably does not possess an α-synuclein homolog. Synuclein orthologs are present in the zebrafish however, and transgenic zebrafish that carry human α-synuclein have been generated. In addition, the zebrafish is a highly advantageous model and ideal replacement for reducing the use of mammalian models. This review discusses the application of the zebrafish as a model for synucleinopathies in efforts to further understand synuclein function and explore therapeutic strategies.

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

• Annals of Clinical Neurophysiology
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• v.22 no.1
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• pp.33-36
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• 2020

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder with numerous causes that include genetic factors. Efforts to reveal the genetics of ALS have identified several candidate genes that are associated with familial and sporadic ALS. Here we report a Korean ALS patient who showed prominent upper motor-neuron-related symptoms with marked brain atrophy and neuropsychological deficits. The findings were highly suggestive of ALS in a patient with a likely pathogenic FIG4 variant.

• Journal of Yeungnam Medical Science
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• v.40 no.3
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• pp.225-232
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• 2023

Cognitive dysfunction is relatively less considered a complication of hypertension. However, there is sufficient evidence to show that high blood pressure in middle age increases the risk of cognitive decline and dementia in old age. The greatest impact on cognitive function in those with hypertension is on executive or frontal lobe function, similar to the area most damaged in vascular dementia. Possible cognitive disorders associated with hypertension are vascular dementia, Alzheimer disease, and Lewy body dementia, listed in decreasing strength of association. The pathophysiology of cognitive dysfunction in individuals with hypertension includes brain atrophy, microinfarcts, microbleeds, neuronal loss, white matter lesions, network disruption, neurovascular unit damage, reduced cerebral blood flow, blood-brain barrier damage, enlarged perivascular damage, and proteinopathy. Antihypertensive drugs may reduce the risk of cognitive decline and dementia. Given the high prevalence of dementia and its impact on quality of life, treatment of hypertension to reduce cognitive decline may be a clinically relevant intervention.

• The Journal of Korean Institute of Communications and Information Sciences
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• v.25 no.7A
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• pp.1006-1016
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• 2000

This study is to segment white matter, gray matter, and cerebrospinal fluid(CSF) on a brain MR image and to calculate the volume of each. First, after removing the background on a brain MR image, we segmented the whole region of a brain from a skull and a fat layer. Then, we calculated the partial volume of each component, which was present in scanning finite thickness, with the arithmetical analysis of gray value from the internal region of a brain showing the blurring effects on the basis of the MR image forming principle. Calculated partial volumes of white matter, gray matter and CSF were used to determine the threshold for the segmentation of each component on a brain MR image showing the blurring effects. Finally, the volumes of segmented white matter, gray matter, and CSF were calculated. The result of this study can be used as the objective diagnostic method to determine the degree of brain atrophy of patients who have neurodegenerative diseases such as Alzheimer's disease and cerebral palsy.

• Journal of Korean Neurosurgical Society
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• v.57 no.4
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• pp.271-275
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• 2015

Objective : Chronic subdural hematoma (CSDH) is a rare complication of unruptured aneurysm clipping surgery. The purpose of this study was to identify the incidence and risk factors of postoperative CSDH after surgical clipping for unruptured anterior circulation aneurysms. Methods : This retrospective study included 518 patients from a single tertiary institute from January 2008 to December 2013. CSDH was defined as subdural hemorrhage which needed surgical treatment. The degree of brain atrophy was estimated using the bicaudate ratio (BCR) index. We used uni- and multivariate analyses to identify risk factors correlated with CSDH. Results : Sixteen (3.1%) patients experienced postoperative CSDH that required burr hole drainage surgery. In univariate analyses, male gender (p<0.001), size of aneurysm (p=0.030), higher BCR index (p=0.004), and the use of antithrombotic medication (p=0.006) were associated with postoperative CSDH. In multivariate analyses using logistic regression test, male gender [odds ratio (OR) 4.037, range 1.287-12.688], high BCR index (OR 5.376, range 1.170-25.000), and the use of antithrombotic medication (OR 4.854, range 1.658-14.085) were associated with postoperative CSDH (p<0.05). Postoperative subdural fluid collection and arachnoid plasty were not showed statistically significant difference in this study. Conclusion : The incidence of CSDH was 3.1% in unruptured anterior circulation aneurysm surgery. This study shows that male gender, degree of brain atrophy, and the use of antithrombotic medication were associated with postoperative CSDH.

• Journal of Korean Neurosurgical Society
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• v.39 no.1
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• pp.20-25
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• 2006

Objective : The authors analyze prospectively the result of transcranial doppler[TCD] in normal pressure hydrocephalus and compared its cerebral blood flow parameters to radionuclide cerebrospinal fluid[CSF] flow study, postoperative brain computed tomography[CT] findings and clinical outcome, and studied the relationship between cerebral hemodynamics and clinical performance. Methods : Twenty five patients with hydrocephalus undertook pre- and post-operative TCD but only preoperative CSF flow study was performed. Mean flow velocity[Vm], pulsatility index[PI] and resistance index[RI] were assessed through TCD and changes in ventricle size and cortical gyral atrophy were checked through brain CT. Results : Postoperative hydrocephalus showed an increase in Vm[ACA P=0.037, MCA P=0.034], decrease in PI[ACA P=0.019, MCA P=0.017] and decrease in RI [ACA P=0.017, MCA P=0.021] compared to preoperative TCD parameters in the postoperative improvement group. In the postoperative improvement group, postoperative TCD parameters correlated with CSF flow study grade [Vm : $R^2=-0.75$, PI : $R^2=0.86$, RI : $R^2=0.78$] and ventriculocranial ratio change correlated with PI change [$R^2=0.73$]. The convexity gyral atrophy and initial TCD parameters showed close relationship to outcome. Conclusion : PI and RI can be used as an indicator of post operative prognosis, and with the addition of CSF flow study values, can also be used as a tool to predict pre-op and post-op patient status and successful shunt surgery.