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1.
Journal of Korean Medical Science ; : e10-2023.
Article in English | WPRIM | ID: wpr-967450

ABSTRACT

Background@#This study aimed to investigate 1) long-term outcomes of deep brain stimulation (DBS), such as mortality after DBS as well as the causes of death, 2) demographic and socioeconomic factors influencing mortality, and 3) comorbidities affecting mortality after DBS in patients with Parkinson’s disease (PD). @*Methods@#This study analyzed the National Health Insurance Service-National Health Information Database. Data on patients with PD diagnosis codes from 2002 to 2019 were extracted and analyzed. Data on the causes of death were obtained by linking the causes of death to data from Statistics Korea. The Kaplan-Meier method with the log-rank test was used for survival analysis. Multivariate Cox regression analyses were used to estimate hazard ratios (HRs) and their 95% confidence intervals. Regarding comorbidities such as PD dementia and fracture, which did not satisfy the assumption for the proportional HR, timedependent Cox analysis with the Mantel-Byar method was used. @*Results@#From 2005 to 2017, among 156,875 patients diagnosed with PD in Korea, 1,079 patients underwent DBS surgery, and 251 (23.3%) had died by 2019. The most common cause of death (47.1%) was PD. In the multivariate Cox regression analysis, the higher the age at diagnosis and surgery, the higher the mortality rate. The men and medical aid groups had significantly higher mortality rates. PD dementia and fracture were identified as risk factors for mortality. @*Conclusion@#Older age at diagnosis and surgery, being male, the use of medical aid, and the comorbidity of dementia and fractures were associated with a higher risk of mortality after DBS in patients with PD. Neurologists should consider these risk factors in assessing the prognosis of PD patients undergoing DBS.

2.
Journal of Korean Neurosurgical Society ; : 334-341, 2022.
Article in English | WPRIM | ID: wpr-926038

ABSTRACT

Traumatic brain injury (TBI) is one of the leading causes of death in the pediatric population in Korea. In addition, it can cause disability in children and adolescents, with physical and mental consequences. This causes a substantial burden on the health care system and occurs globally and not just in Korea. We searched and reviewed current data on the epidemiologic characteristics of pediatric TBI in Korea. Our review provides the recent epidemiological trend mainly focusing on incidence and mortality along with worldwide reported data. This review will be helpful to understand the global epidemiology of pediatric TBI and its differences between countries.

3.
Journal of the Korean Neurological Association ; : 312-321, 2021.
Article in Korean | WPRIM | ID: wpr-916312

ABSTRACT

Background@#Depression and anxiety are prevalent and can cause suffering in patients with Parkinson’s disease (PD). The Korean version of the Hospital Anxiety and Depression Scale (K-HADS) has been widely used to assess depression and anxiety symptoms in Korean patient with PD. The present study aimed to assess the reliability and validity of the K-HADS using Rasch measurement analysis. @*Methods@#A total of 106 PD patients (54 males, 52 females) who met the diagnostic criteria of the United Kingdom Brain Bank were recruited. Unidimensionality, the Rasch model fit, response category functioning, patient-item distribution, and the separation reliability of the K-HADS depression (K-HADS-D) and anxiety (K-HADS-A) subscales were statistically evaluated. @*Results@#The mean K-HADS-D and K-HADS-A scores were 8.08±4.69 (mean±standard deviation) and 5.44±4.18, respectively. Cronbach’s α coefficients of the K-HADS-D and K-HADS-A were 0.82 and 0.83. The Rasch analysis revealed that the K-HADS-D and K-HADS-A showed unidimensionality and no disordered functioning was observed in the 4-point polytomous scale. However, both K-HADS-D and K-HADS-A exhibited suboptimal separation reliability, while the K-HADS-A showed inadequate scale targeting with floor effect. @*Conclusions@#The present study comprises the first validation of the K-HADS using the Rasch measurement model, suggesting that the K-HADS-D and K-HADS-A are clinimetrically acceptable and reliable scales for use in Korean patients with PD. However, the moderate person separation indices implicate the relatively low discriminatory ability of the K-HADS in our study patients.

4.
Journal of Clinical Neurology ; : 245-253, 2020.
Article | WPRIM | ID: wpr-833603

ABSTRACT

Background@#and PurposeImpulse-control disorder is an important nonmotor symptom of Parkinson's disease (PD) that can lead to financial and social problems, and be related to a poor quality of life. A nationwide multicenter prospective study was performed with the aim of validating the Korean Version of the Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease Rating Scale (K-QUIP-RS). @*Methods@#The K-QUIP-RS was constructed using forward and backward translation, and pretesting of the prefinal version. PD patients on stable medical condition were recruited from 27 movement-disorder clinics. Participants were assessed using the K-QUIP-RS and evaluated for parkinsonian motor and nonmotor statuses and for PD-related quality of life using a predefined evaluation battery. The test–retest reliability of the K-QUIP-RS was assessed over an interval of 10–14 days, and correlations between the KQUIP-RS and other clinical scales were analyzed. @*Results@#This study enrolled 136 patients. The internal consistency of the K-QUIP-RS was indicated by a Cronbach's α coefficient of 0.846, as was the test–retest reliability by a Guttman split-half coefficient of 0.808. The total K-QUIP-RS score was positively correlated with the scores for depression and motivation items on the Unified PD Rating Scale (UPDRS), Montgomery-Asberg Depression Scale, and Rapid-Eye-Movement Sleep-Behavior-Disorders Questionnaire. The total K-QUIP-RS score was also correlated with the scores on part II of the UPDRS and the PD Quality of Life-39 questionnaire, and the dopaminergic medication dose. @*Conclusions@#The K-QUIP-RS appears to be a reliable assessment tool for impulse-control and related behavioral disturbances in the Korean PD population.

6.
West China Journal of Stomatology ; (6): 509-515, 2019.
Article in Chinese | WPRIM | ID: wpr-772617

ABSTRACT

OBJECTIVE@#To investigate the effect of circular RNA hsa_circ_0002203 on the malignant biological behavior of oral squamous cell carcinoma (OSCC) cell lines.@*METHODS@#Forty patients with oral squamous cell carcinoma were included. Real-time fluorescent polymerase chain reaction (PCR) was used to detect the expression level of circular RNA hsa_circ_
0002203 in OSCC and corresponding adjacent tissues, OSCC cell lines, and human oral keratinocytes (HOK). SCC15 and CAL27 cells were transfected with lenti-virus. The expression level of circular RNA hsa_circ_0002203 was detected by real-time fluorescent PCR. Cell proliferation was detected by cell counting assay (CCK-8). Cell migration and invasion ability was detected by scratch assay and Transwell migration and invasion assay. Apoptosis level was detected by flow cytometry. The expression of corresponding protein was detected by Western blot. Murine tumor formation experiments were performed to observe the effect of hsa_circ_0002203 on the tumorigenesis of SCC15 cells in vivo.@*RESULTS@#The expression of circular RNA hsa_circ_0002203 in OSCC tissues was lower than that in adjacent tissues (P<0.01), and the expression in OSCC cell lines was lower than that in HOK (P<0.001). Hsa_circ_
0002203 expression increased after the lentiviral infection of SCC15 and CAL27. The proliferation, migration, and invasion of SCC15 and CAL27 reduced, and apoptosis level was promoted. The tumor volume, weight decreased, and growth rate of nude mice decreased.@*CONCLUSIONS@#The low expression of circular RNA hsa_circ_0002203 in oral squamous cell carcinoma can enhance the proliferation, migration, and invasion of cancer cells and inhibit tumor cell apoptosis.


Subject(s)
Animals , Humans , Mice , Apoptosis , Carcinoma, Squamous Cell , Cell Line, Tumor , Cell Proliferation , Mice, Nude , Mouth Neoplasms , RNA
7.
Chinese Acupuncture & Moxibustion ; (12): 1173-1176, 2019.
Article in Chinese | WPRIM | ID: wpr-776193

ABSTRACT

OBJECTIVE@#To compare the clinical efficacy of needle-knife and hydroxychloroquine sulfate in the treatment of dry mouth and eyes symptoms of primary Sjögren's syndrome.@*METHODS@#A total of 60 patients with primary Sjögren's syndrome were randomly divided into an observation group and a control group, 30 cases in each group. In the observation group, needle-knife was used in the range of 2 cm and 2-3 cm below the occipital protuberance, the left and right lateral bone edges of the C spinous process, between and within the range of 1.5-3 cm beside the C and C spinous processes, points between the left and right mandibular angle and the mastoid, the treatment was given 1 time a week for 8 times. The hydroxychloroquine sulfate was applied 0.2 g each time, 2 times daily, 4 weeks as a course and a total of 2 courses in the control group. The changes of salivary flow rate, tear volume, serum immunoglobulin IgG, IgA, IgM contents and Chinese medicine symptom score were observed before and after treatment in the two groups, and the efficacy was evaluated.@*RESULTS@#The total effective rate in the observation group was 86.7% (26/30), which was better than 70.0% (21/30) in the control group (0.05).@*CONCLUSION@#Needle-knife is superior to hydroxychloroquine sulfate in improving dry mouth and eyes symptoms and reducing serum IgG content in patients with primary Sjögren's syndrome.


Subject(s)
Humans , Acupuncture Therapy , Hydroxychloroquine , Therapeutic Uses , Sjogren's Syndrome , Therapeutics , Tears , Treatment Outcome
8.
Journal of Clinical Neurology ; : 401-403, 2019.
Article in English | WPRIM | ID: wpr-764329

ABSTRACT

No abstract available.


Subject(s)
Diplopia , Vestibular Neuronitis
9.
Journal of Korean Medical Science ; : e293-2018.
Article in English | WPRIM | ID: wpr-718197

ABSTRACT

No abstract available.


Subject(s)
Parkinson Disease , Population Characteristics
10.
Journal of Movement Disorders ; : 133-138, 2018.
Article in English | WPRIM | ID: wpr-765826

ABSTRACT

OBJECTIVE: Musculoskeletal problems are more common in patients with Parkinson's disease (PD) than in normal elderly, but the impact of musculoskeletal problems on health-related quality of life (HRQoL) in patients with PD is unknown. METHODS: Four hundred consecutive patients with PD were enrolled for the evaluation of musculoskeletal problems and HRQoL. HRQoL was assessed by the 36-Item Short Form Health Survey, which comprised physical health and mental health. RESULTS: Of the total patients, 265 patients had musculoskeletal problems, and 135 patients did not have musculoskeletal problems. Patients with musculoskeletal problems reported lower levels of HRQoL in terms of physical health than did patients without musculoskeletal problems (p < 0.05). In women, all components of physical health were lower in patients with musculoskeletal problems than in patients without musculoskeletal problems (p < 0.05). Meanwhile, in men, only the bodily pain score of physical health was lower in patients with musculoskeletal problems than in patients without musculoskeletal problems. Mental health and physical health were negatively correlated with depression, Unified Parkinson's Disease Rating Scale I & II scores, and pain severity from musculoskeletal problems, in that order (p < 0.01 for all). CONCLUSION: These results suggest that musculoskeletal problems in patients with PD affect HRQoL significantly, mainly in terms of physical health rather than mental health and especially in women rather than men. Musculoskeletal problems should not be overlooked in the care of patients with PD.


Subject(s)
Aged , Female , Humans , Male , Depression , Health Surveys , Mental Health , Parkinson Disease , Quality of Life
11.
Journal of Movement Disorders ; : 65-71, 2018.
Article in English | WPRIM | ID: wpr-765821

ABSTRACT

OBJECTIVE: We examined whether amantadine can prevent the development of dyskinesia. METHODS: Patients with drug-naïve Parkinson's disease (PD), younger than 70 years of age and in the early stage of PD (Hoehn and Yahr scale < 3), were recruited from April 2011 to December 2014. The exclusion criteria included the previous use of antiparkinsonian medication, the presence of dyskinesia, significant psychological disorders, and previous history of a hypersensitivity reaction. Patients were consecutively assigned to one of 3 treatment groups in an open label fashion: Group A-1, amantadine first and then levodopa when needed; Group A-2, amantadine first, dopamine agonist when needed, and then levodopa; and Group B, dopamine agonist first and then levodopa when needed. The primary endpoint was the development of dyskinesia, which was analyzed by the Kaplan-Meier survival rate. RESULTS: A total of 80 patients were enrolled: Group A-1 (n = 27), Group A-2 (n = 27), and Group B (n = 26). Twenty-four patients were excluded from the analysis due to the following: withdrawal of amantadine or dopamine agonist (n = 9), alternative diagnosis (n = 2), withdrawal of consent (n = 1), and breach in the protocol (n = 12). After exclusion, 5 of the 56 (8.93%) patients developed dyskinesia. Patients in Group A-1 and A-2 tended to develop dyskinesia less often than those in Group B (cumulative survival rates of 0.933, 0.929, and 0.700 for A-1, A-2, and B, respectively; p = 0.453). CONCLUSION: Amantadine as an initial treatment may decrease the incidence of dyskinesia in patients with drug-naïve PD.


Subject(s)
Humans , Amantadine , Diagnosis , Dopamine Agonists , Dyskinesias , Hypersensitivity , Incidence , Levodopa , Parkinson Disease , Survival Rate
12.
Journal of Korean Medical Science ; : e14-2018.
Article in English | WPRIM | ID: wpr-764855

ABSTRACT

BACKGROUND: Sleep problems commonly occur in patients with Parkinson's disease (PD), and are associated with a lower quality of life. The aim of the current study was to translate the English version of the Scales for Outcomes in Parkinson's Disease-Sleep (SCOPA-S) into the Korean version of SCOPA-S (K-SCOPA-S), and to evaluate its reliability and validity for use by Korean-speaking patients with PD. METHODS: In total, 136 patients with PD from 27 movement disorder centres of university-affiliated hospitals in Korea were enrolled in this study. They were assessed using SCOPA, Hoehn and Yahr Scale (HYS), Unified Parkinson's Disease Rating Scale (UPDRS), Parkinson's Disease Sleep Scale 2nd version (PDSS-2), Non-motor Symptoms Scale (NMSS), Montgomery Asberg Depression Scale (MADS), 39-item Parkinson's Disease Questionnaire (PDQ39), Neurogenic Orthostatic Hypotension Questionnaire (NOHQ), and Rapid Eye Movement Sleep Behaviour Disorder Questionnaire (RBDQ). The test-retest reliability was assessed over a time interval of 10–14 days. RESULTS: The internal consistency (Cronbach's α-coefficients) of K-SCOPA-S was 0.88 for nighttime sleep (NS) and 0.75 for daytime sleepiness (DS). Test-retest reliability was 0.88 and 0.85 for the NS and DS, respectively. There was a moderate correlation between the NS sub-score and PDSS-2 total score. The NS and DS sub-scores of K-SCOPA-S were correlated with motor scale such as HYS, and non-motor scales such as UPDRS I, UPDRS II, MADS, NMSS, PDQ39, and NOHQ while the DS sub-score was with RBDQ. CONCLUSION: The K-SCOPA-S exhibited good reliability and validity for the assessment of sleep problems in the Korean patients with PD.


Subject(s)
Humans , Depression , Hypotension, Orthostatic , Korea , Movement Disorders , Parkinson Disease , Quality of Life , Reproducibility of Results , Sleep, REM , Weights and Measures
13.
Journal of the Korean Balance Society ; : 152-159, 2018.
Article in Korean | WPRIM | ID: wpr-761282

ABSTRACT

OBJECTIVES: The Korean Dizziness Handicap Inventory (KDHI), which includes 25 patient-reported items, has been used to assess self-reported dizziness in Korean patients with Parkinson disease (PD). Nevertheless, few studies have examined the KDHI based on item-response theory within this population. The aim of our study was to address the feasibility and clinimetric properties of the KDHI instrument using polytomous Rasch measurement analysis. METHODS: The unidimensionality, scale targeting, separation reliability, item difficulty (severity), and response category utility of the KDHI were statistically assessed based on the Andrich rating scale model. The utilities of the orderedresponse categories of the 3-point Likert scale were analyzed with reference to the probability curves of the response categories. The separation reliability of the KDHI was assessed based on person separation reliability (PSR), which is used to measure the capacity to discriminate among groups of patients with different levels of balance deficits. RESULTS: Principal component analyses of residuals revealed that the KDHI had unidimensionality. The KHDI had satisfactory PSR and there were no disordered thresholds in the 3-point rating scale. However, the KDHI showed several issues for inappropriate scale targeting and misfit items (items 1 and 2) for Rasch model. CONCLUSIONS: The KDHI provide unidimensional measures of imbalance symptoms in patients with PD with adequate separation reliability. There was no statistical evidence of disorder in polytomous rating scales. The Rasch analysis results suggest that the KDHI is a reliable scale for measuring the imbalance symptoms in PD patients, and identified parts for possible amendments in order to further improve the linear metric scale.


Subject(s)
Humans , Dizziness , Parkinson Disease , Principal Component Analysis , Weights and Measures
14.
Journal of the Korean Child Neurology Society ; (4): 43-47, 2018.
Article in English | WPRIM | ID: wpr-728829

ABSTRACT

Dopa-responsive dystonia (DRD) is characterized by lower limb-onset, diurnally fluctuating dystonia and dramatic and sustained response to levodopa treatment. Segawa disease, an autosomal dominant deficiency of guanosine triphosphate cyclohydrolase 1 (encoded by GCH1) is the most common and well-known condition manifesting as DRD. However, similar clinical manifestations can be seen in individuals with deficiencies of other enzymes that are involved in the biosynthesis of dopamine. We describe the case of an 11-year-old girl who presented with abnormal gait, which had initially begun 2 years back. The patient showed diurnally fluctuating dystonia in both legs. She was able to walk without support in the morning, but was unable to stand without support in the evening. She had been diagnosed as having spastic cerebral palsy and had been managed with physical therapy at a local rehabilitation clinic. The patient had been healthy until the development of dystonia, and did not have a history of perinatal problems or developmental delay. Routine hematologic and biochemical test results were normal. Brain magnetic resonance imaging and electroencephalography showed no abnormalities. When levodopa was administered, the patient's abnormal gait dramatically improved 1 hour after receiving the medication. Genetic testing for the GCH1 gene revealed a missense mutation (c.293C>T [p.A98V]) that has previously been reported in patients with DRD. This case demonstrated that a levodopa trial is vital for accurate and early diagnosis of DRD in patients with dystonia resulting from an unknown cause.


Subject(s)
Child , Female , Humans , Brain , Cerebral Palsy , Diagnostic Errors , Dopamine , Dystonia , Early Diagnosis , Electroencephalography , Gait , Genetic Testing , Guanosine Triphosphate , Leg , Levodopa , Magnetic Resonance Imaging , Mutation, Missense , Rehabilitation
15.
Journal of Movement Disorders ; : 29-34, 2017.
Article in English | WPRIM | ID: wpr-73983

ABSTRACT

OBJECTIVE: Autonomic symptoms are commonly observed in patients with Parkinson's disease (PD) and often limit the activities of daily living. The Scale for Outcomes in Parkinson's disease-Autonomic (SCOPA-AUT) was developed to evaluate and quantify autonomic symptoms in PD. The goal of this study was to translate the original SCOPA-AUT, which was written in English, into Korean and to evaluate its reliability and validity for Korean PD patients. METHODS: For the translation, the following processes were performed: forward translation, backward translation, expert review, pretest of the pre-final version and development of the final Korean version of SCOPA-AUT (K-SCOPA-AUT). In total, 127 patients with PD from 31 movement disorder clinics of university-affiliated hospitals in Korea were enrolled in this study. All patients were assessed using the K-SCOPA-AUT and other motor, non-motor, and quality of life scores. Test-retest reliability for the K-SCOPA-AUT was assessed over a time interval of 10−14 days. RESULTS: The internal consistency and reliability of the K-SCOPA-AUT was 0.727 as measured by the mean Cronbach's α-coefficient. The test-retest correlation reliability was 0.859 by the Guttman split-half coefficient. The total K-SCOPA-AUT score showed a positive correlation with other non-motor symptoms [the Korean version of non-motor symptom scale (K-NMSS)], activities of daily living (Unified Parkinson's Disease Rating Scale part II) and quality of life [the Korean version of Parkinson's Disease Quality of Life 39 (K-PDQ39)]. CONCLUSION: The K-SCOPA-AUT had good reliability and validity for the assessment of autonomic dysfunction in Korean PD patients. Autonomic symptom severities were associated with many other motor and non-motor impairments and influenced quality of life.


Subject(s)
Humans , Activities of Daily Living , Korea , Movement Disorders , Parkinson Disease , Quality of Life , Reproducibility of Results
16.
Chinese Journal of Integrated Traditional and Western Medicine ; (12): 663-667, 2016.
Article in Chinese | WPRIM | ID: wpr-328245

ABSTRACT

<p><b>OBJECTIVE</b>To observe the clinical effect of Chinese medical (CM) syndrome differentiation based Chinese herbs and recombinant human tumor necrosis factor receptor II-antibody fusion protein (etanercept) for treating ankylosing spondylitis (AS) patients.</p><p><b>METHODS</b>Totally 35 AS patients were treated with syndrome differentiation based Chinese herbs and etanercept. Reinforcing Shen and strengthening Du channel, activating meridians to stop pain was principle used in syndrome differentiation based treatment. Etanercept was subcutaneously injected, 25 mg each time; twice per week for the first three months and once a week for the latter three months. The clinical efficacy was evaluated after 3 and 6 months of treatment. Meanwhile, ASAS20 and ASAS50 standards arriving rates were also observed. Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), Bath Ankylosing Spondylitis Functional Index (BASFI), visual analog score (VAS) for spine pain, VAS for night pain, patient global assessment (PGA), VAS for physician global assessment, CM syndrome score, finger-ground distance, thoracic activity, tragus-wall distance, lumbar scoliosis, cervical rotation, Schober improved test, erythrocyte sedimentation rate (ESR), and C-reactive protein (CRP) were observed before treatment, 3 and 6 months after treatment.</p><p><b>RESULTS</b>Compared with before treatment, BASDAI, BASFI, VAS for spine pain, night pain, physician global assessment, PGA, CM syndrome score, finger-ground distance, thoracic activity, tragus-wall distance, lumbar scoliosis, Schober improved test, ESR, and CRP all decreased after 3 and 6 months of treatment, with statistical difference (P < 0.05). Cervical rotation also decreased after 6 months of treatment, with statistical difference (P < 0.05). Compared with 3 months of treatment, total effective rate of CM syndrome, ASAS20 and ASAS50 standards arriving rates increased after 6 months of treatment, with statistical difference (P < 0.05). There were statistical differences in all indices mentioned above between after 3 months of treatment and after 6 months of treatment (P < 0.05).</p><p><b>CONCLUSION</b>Syndrome differentiation based Chinese herbs combined etanercept could alleviate inflammatory reaction favorably, control the progression of active AS, and improve joint functions.</p>


Subject(s)
Humans , Disease Progression , Drugs, Chinese Herbal , Therapeutic Uses , Etanercept , Therapeutic Uses , Pain , Pain Management , Spondylitis, Ankylosing , Drug Therapy , Treatment Outcome
17.
National Journal of Andrology ; (12): 338-341, 2015.
Article in Chinese | WPRIM | ID: wpr-319497

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the pathogenesis of globozoospermia, fertilization ability of round-headed sperm, and the application value of assisted oocyte activation in intracytoplasmic sperm injection (ICSI) for the wives of glohozoospermia men.</p><p><b>METHODS</b>We collected oocytes from the wives of 2 globozoospermia patients and randomly divided them into two groups after ICSI to receive calcium ionophore A23187-activation and conventional treatment, respectively. We reviewed the relevant literature published at home and abroad, and discussed the etiology of globozoospermia, fertilization ability of round-headed sperm, and treatment options for this disease.</p><p><b>RESULTS</b>Quality embryos were obtained in the A23187-activation group while no fertilized oocytes, oocyte cleavage, quality embryos, or blastular formation were found in the conventional treatment group. Both women achieved pregnancy and gave birth to healthy neonates after transfer of the quality embryos from the A23187-activation group.</p><p><b>CONCLUSION</b>Calcium ionophore A23187 can be applied to ICSI for the wives of globozoospermia men and bring about desirable clinical outcomes. Meanwhile, attention should be paid to its safety.</p>


Subject(s)
Female , Humans , Male , Pregnancy , Calcimycin , Therapeutic Uses , Calcium Ionophores , Therapeutic Uses , Infertility, Male , Drug Therapy , Oocytes , Sperm Injections, Intracytoplasmic , Spermatozoa , Congenital Abnormalities
18.
Neurology Asia ; : 357-362, 2014.
Article in English | WPRIM | ID: wpr-628548

ABSTRACT

Background & Objective: Recently, mutations in PRRT2 have been found to cause paroxysmal kinesigenic dyskinesia (PKD). However, only several reports have described the detailed clinical features of patients with the PRRT2 mutation compared to those without the mutation. Furthermore, 16p11.2 microdeletions including PRRT2 also have been reported in patients with PKD; however, it is unknown to what extent the PRRT2 deletion contributes to the development of PKD. Methods: We performed mutation screening in 29 Korean patients with PKD analyzing the sequence and gene dosage of PRRT2 and their clinical features. Results: Overall, genetic abnormalities in PRRT2 were identified in 7 patients (24%): 3 from the 6 familial cases (50%) and 4 from the 23 sporadic cases (17%). The previously reported c.649dupC and c.649delC were found in 5 and 1 patient, respectively, and a novel mutation c.323_324delCA was found in 1 patient. No patients had deletions involving the PRRT2 gene. Compared with the mutation-negative cases, the age of PKD onset was earlier in the mutation-positive cases. However, there were no differences in the other clinical features. A dystonia-only phenotype was reported only in the mutation-negative cases. Contrary to common belief that patients with PKD have an excellent response to carbamazepine, 3 mutation-positive patients taking carbamazepine reported only a partial response. Conclusions: PRRT2 is a common causative gene for Korean patients with PKD. Our results show that the incomplete response to carbamazepine does not exclude the PRRT2 mutation.

19.
Neurology Asia ; : 99-103, 2014.
Article in English | WPRIM | ID: wpr-628426

ABSTRACT

We present the first case report of fragile X-associated tremor ataxia syndrome (FXTAS) in the Republic of Korea. A 75-year-old male developed progressive gait ataxia, parkinsonism, and a mood disorder. Magnetic resonance imaging revealed T2 high signal intensity within the middle cerebellar peduncles. Analysis of the fragile X mental retardation 1 gene revealed a CGG trinucleotide repeat number of 136. FXTAS should be considered when a patient has atypical parkinsonism, cerebellar ataxia, and specific MRI abnormalities.

20.
Journal of the Korean Neurological Association ; : 293-297, 2014.
Article in Korean | WPRIM | ID: wpr-11854

ABSTRACT

Status epilepticus is rare complication of cerebral hyperperfusion syndrome and is a critical medical emergency that requires potent anesthetics. Propofol has the advantages of being rapid-acting and possessing a weaker cardiopulmonary suppression profile, but its use is associated with serious propofol infusion syndrome. We report herein a case of cerebral hyperperfusion syndrome after carotid endarterectomy presenting with refractory partial status epilepticus and fatal outcome associated with propofol infusion syndrome.


Subject(s)
Humans , Anesthetics , Emergencies , Endarterectomy, Carotid , Fatal Outcome , Propofol , Status Epilepticus
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