Journal of Clinical Neurology (Seoul, Korea)最新文献

{"title":"Autonomic Dysfunction in Sleep Disorders: From Neurobiological Basis to Potential Therapeutic Approaches","authors":"Hakseung Kim, Hee-Ra Jung, J. B. Kim, Dong-Joo Kim","doi":"10.3988/jcn.2022.18.2.140","DOIUrl":"https://doi.org/10.3988/jcn.2022.18.2.140","url":null,"abstract":"Sleep disorder has been portrayed as merely a common dissatisfaction with sleep quality and quantity. However, sleep disorder is actually a medical condition characterized by inconsistent sleep patterns that interfere with emotional dynamics, cognitive functioning, and even physical performance. This is consistent with sleep abnormalities being more common in patients with autonomic dysfunction than in the general population. The autonomic nervous system coordinates various visceral functions ranging from respiration to neuroendocrine secretion in order to maintain homeostasis of the body. Because the cell population and efferent signals involved in autonomic regulation are spatially adjacent to those that regulate the sleep-wake system, sleep architecture and autonomic coordination exert effects on each other, suggesting the presence of a bidirectional relationship in addition to shared pathology. The primary goal of this review is to highlight the bidirectional and shared relationship between sleep and autonomic regulation. It also introduces the effects of autonomic dysfunction on insomnia, breathing disorders, central disorders of hypersomnolence, parasomnias, and movement disorders. This information will assist clinicians in determining how neuromodulation can have the greatest therapeutic effects in patients with sleep disorders.","PeriodicalId":324902,"journal":{"name":"Journal of Clinical Neurology (Seoul, Korea)","volume":"5 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131273327","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Update on the Laboratory Diagnosis of Neuromyelitis Optica Spectrum Disorders","authors":"M. V. Jeyalatha, K. Therese, A. Anand","doi":"10.3988/jcn.2022.18.2.152","DOIUrl":"https://doi.org/10.3988/jcn.2022.18.2.152","url":null,"abstract":"Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disorder of the central nervous system that is specifically associated with demyelination of spinal cord and optic nerves. The discovery of specific autoantibody markers such as aquaporin-4 IgG and myelin oligodendrocyte glycoprotein IgG has led to several methodologies being developed and validated. There have been numerous investigations of the clinical and radiological presentations used in the clinical diagnosis of NMOSD. However, although various laboratory diagnostic techniques have been standardized and validated, a gold-standard test has yet to be finalized due to uncertain sensitivities and specificities of the methodologies. For this review, the literature was surveyed to compile the standardized laboratory techniques utilized for the differential diagnosis of NMOSD. Enzyme-linked immunosorbent assays enable screening of NMOSD, but they are considered less sensitive than cell-based assays (CBAs), which were found to be highly sensitive and specific. However, CBAs are laborious and prone to batch variations in their results, since the expression levels of protein need to be maintained and monitored meticulously. Standardizing point-of-care devices and peptide-based assays would make it possible to improve the turnaround time and accessibility of the test, especially in resource-poor settings.","PeriodicalId":324902,"journal":{"name":"Journal of Clinical Neurology (Seoul, Korea)","volume":"62 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132566731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of Benign Joint Hypermobility Syndrome on the Clinical Characteristics of Carpal Tunnel Syndrome in Females","authors":"S. Satış, M. Tuna","doi":"10.3988/jcn.2022.18.2.223","DOIUrl":"https://doi.org/10.3988/jcn.2022.18.2.223","url":null,"abstract":"Background and Purpose The study aim was to determine the effects of benign joint hypermobility syndrome (BJHS) on symptom severity and functional capacity in females with carpal tunnel syndrome (CTS) based on the findings of physical examinations. Methods One hundred female patients diagnosed with bilateral CTS in electrophysiological testing were included in this study. The participants were evaluated for BJHS using the Brighton 1998 criteria, and divided into two groups: one consisting of 56 CTS patients with BJHS, and the other comprising 44 CTS patients without BJHS. Tinel’s, Phalen’s, and reverse Phalen’s tests were applied to all patients, and the severity and functional capacity of CTS were evaluated using the Boston Carpal Tunnel Syndrome Questionnaire. Results Symptom severity and functional capacity varied significantly between the two groups in the right hand (p=0.037 and p=0.039, respectively) and in the left hand (p=0.016 and p=0.029). The hypermobile group yielded more positive results on the right side during Tinel’s, Phalen’s, and reverse Phalen’s tests (p=0.032, p=0.032, and p=0.018, respectively). Conclusions Hypermobility in females exacerbated the symptoms of CTS and led to a further reduction of functional capacity. Therefore, hypermobility should be tested and an intense exercise program should be implemented in BJHS patients, especially in females with CTS.","PeriodicalId":324902,"journal":{"name":"Journal of Clinical Neurology (Seoul, Korea)","volume":"25 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125012337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Erratum: Isolated Vestibular Syndrome With “Double-Panda” Sign in CNS Lymphoma","authors":"Jeong-Yeon Kim, J. Choi, E. Oh, Seo-Young Choi, H. Kim, Kwang-Dong Choi","doi":"10.3988/jcn.2022.18.2.257","DOIUrl":"https://doi.org/10.3988/jcn.2022.18.2.257","url":null,"abstract":"This corrects the article on p. 111 in vol. 18, PMID: 35021288.","PeriodicalId":324902,"journal":{"name":"Journal of Clinical Neurology (Seoul, Korea)","volume":"20 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114978880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The First Korean Family With Boucher-Neuhäuser Syndrome Carrying a Novel Mutation in PNPLA6","authors":"E. Chung, Eunkyoung You, Seung Hwan Oh, G. Seo, Woodam Chung, Y. Kim, Sang Jin Kim","doi":"10.3988/jcn.2022.18.2.233","DOIUrl":"https://doi.org/10.3988/jcn.2022.18.2.233","url":null,"abstract":"","PeriodicalId":324902,"journal":{"name":"Journal of Clinical Neurology (Seoul, Korea)","volume":"121 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134294560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Basilar Artery Dissection in Myotonic Dystrophy Type 1","authors":"Chan-Hyuk Lee, Seung-Ho Jeon, Byoung-Soo Shin, H. Kang","doi":"10.3988/jcn.2022.18.2.227","DOIUrl":"https://doi.org/10.3988/jcn.2022.18.2.227","url":null,"abstract":"Dear Editor, Myotonic dystrophy type 1 (DM1) is caused by a genetic malfunction involving the overexpression of the CTG sequence in DMPK. This affects the skeletal, cardiac, and smooth muscles, presenting with abnormalities in several body areas. In particular, cardiac fibrosis caused by invasion into cardiac muscle is associated with a high incidence of atrial fibrillation in patients with DM1.1 Atrial fibrillation has been reported as a major causal factor of stroke in DM1.2 Although previous studies have shown that DM1 is associated with an abnormality of the vascular smooth muscle,3 there has been no report of DM1 being related to a compromise of the macrovascular system, which includes arterial dissection. Dissection of the basilar artery (BA) is a very rare disease with an annual incidence of 1/400,000. We report the case of a patient with DM1 who was diagnosed with an acute cerebral infarction due to BA dissection without trauma. Artery dissection could be another etiology of ischemic stroke in patients with myotonic dystrophy. A 58-year-old female visited our clinic due to a gait disturbance, which had worsened 7 days before her visit. She was diagnosed with myotonic dystrophy in her 20s. Her older sister had also been diagnosed with DM1 in her 20s. A neurological examination revealed sensory deficits following light touches in the left facial region and the upper and lower extremities. Moreover, a cerebellar function test revealed left-limb dysmetria and a left-sided falling tendency during gait (National Institutes of Health Stroke Scale score of 5 and modified Rankin Scale score of 3). Percussion myotonia was observed in the abductor pollicis brevis. The findings of routine laboratory tests including of thyroid function were normal. PCRSouthern analysis with a biotin-(CTG) 10 probe revealed that DMPK (CTG) was amplified with over 550 repeats. The characteristic myotonic discharge was observed in the overall muscles. Electrocardiography revealed atrial fibrillation, but no conduction defect or tachycardia was present. Acute infarction of the right pons was confirmed in brain diffusion-weighted magnetic resonance angiography (MRA) (Fig. 1A). Dissection was suspected in the middle portion of the BA (Fig. 1B, C). Transfemoral cerebral angiography was performed to confirm dissection, which revealed flame-like tapering with long-segment stenosis at the same site (Fig. 1D). She was administered 5 mg of apixaban twice daily and 40 mg of atorvastatin once daily, and was discharged after her limb ataxia and gait disturbance improved. DM1 continuously weakens and depletes the muscles in the face, neck, and extremities, and it is characterized by myotonia when the invaded muscle is percussed.4 The severity of DM1 may vary in an individual patient. The adult-onset type is the most common, and its symptoms become distinct from the age of 40 years. DM1 is caused by mutations in DMPK located on chromosome 19q13.3. DM1 presents with abnormalities in se","PeriodicalId":324902,"journal":{"name":"Journal of Clinical Neurology (Seoul, Korea)","volume":"2006 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128867088","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Erratum: Mouth-Opening-Induced Vertigo and Downbeat Nystagmus","authors":"Sun-Uk Lee, S. Na, Sungwook Yu, Tae-Kyeong Lee, Eek-Sung; Eeksung Lee","doi":"10.3988/jcn.2022.18.2.256","DOIUrl":"https://doi.org/10.3988/jcn.2022.18.2.256","url":null,"abstract":"This corrects the article on p. 607 in vol. 17, PMID: 34595878.","PeriodicalId":324902,"journal":{"name":"Journal of Clinical Neurology (Seoul, Korea)","volume":"112 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130292156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Trends in Prescribing of Antiseizure Medications in South Korea: Real-World Evidence for Treated Patients With Epilepsy","authors":"K. Kang, Hyesung Lee, Ju-Young Shin, H. Moon, Seo-Young Lee","doi":"10.3988/jcn.2022.18.2.179","DOIUrl":"https://doi.org/10.3988/jcn.2022.18.2.179","url":null,"abstract":"Background and Purpose We investigated the trends in the prescribing of antiseizure medication (ASM) over a 9-year period, and provide real-world data regarding ASM prescriptions of patients with epilepsy in South Korea. Methods This study used data in the Korean National Health Information Database for the period from 2009 to 2017. We included 18 oral ASMs, which were classified into older and newer ASMs based on them first becoming available on the market before or after 1991, respectively. The annual trends in ASM prescriptions were plotted over the 9-year study period, and changes in these trends were evaluated as average annual percentage changes (AAPCs) using Poisson regression. Age- and sex-stratified analyses were also conducted. Results Overall, the proportion of prescriptions involving polytherapy with three or more ASMs increased from 10.08% in 2009 to 10.99% in 2017 (AAPC=0.9%, p<0.001) over the 9-year study period. Among monotherapies, although valproate (VPA) was the most frequently prescribed ASM, the prescription rate of levetiracetam (LEV) steadily increased regardless of age and sex over the study period. The monotherapy prescription trends differed depending on age and sex. In the five most frequently used ASM combination regimens, the prescription rates of VPA/LEV, LEV/oxcarbazepine, and LEV/lamotrigine regimens showed increasing tendencies. In contrast, prescription rates for all combined regimens of older ASMs declined over time in all age groups. Conclusions This is the first epidemiological study of the changes in prescription trends for ASM in South Korea based on nationwide data from 2009 to 2017. We found progressive increases in the use of newer ASMs for both monotherapy and duotherapy, and for polytherapy with three or more ASMs over the 9-year study period.","PeriodicalId":324902,"journal":{"name":"Journal of Clinical Neurology (Seoul, Korea)","volume":"39 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127573318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel KCNA1 Variant Manifesting as Persistent Limb Myokymia Without Episodic Ataxia","authors":"I. Shin, S. Sohn, S. Kim, I. Joo","doi":"10.3988/jcn.2022.18.2.235","DOIUrl":"https://doi.org/10.3988/jcn.2022.18.2.235","url":null,"abstract":"Dear Editor, We read with great interest the article by Lee et al.1 describing the first Korean episodic ataxia (EA) type 1 patient with a novel KCNA1 mutation. We report another novel KCNA1 variant with a rare phenotype: isolated myokymia without either EA or seizure. We also make additional comments on the phenotypic variability in KCNA1 mutations. A 39-year-old female presented with continuous muscle twitches involving both thighs with intermittent right-foot dystonia. The muscle twitching had initially started in the right thigh and spread to the left side 1 year later. Her previous medical history included bronchial asthma and several orthopedic surgeries of both ankles and knees after a traffic collision 7 years previously. The family history was unremarkable. A neurologic examination identified continuous involuntary undulating muscle movements in both thighs that was worse on the right side (Supplementary Video 1 in the online-only Data Supplement). She had difficulty walking due to persistent muscle spasms. Muscle weakness, dysarthria, limb dysmetria, and spasticity were not observed. A nerve conduction study revealed normal sensory and motor responses. Needle electromyography showed myokymic discharges in several muscles (including rectus femoris) bilaterally in the lower extremities (Fig. 1A). Overnight polysomnography confirmed persistent muscle twitching during sleep. Routine laboratory testing showed normal creatine kinase and inflammatory markers. Thyroid-stimulating hormone, thyroxine, magnesium, and vitamin D levels were normal. Serologic studies were negative for human immunodeficiency virus and syphilis. An additional evaluation for the differential diagnosis of peripheral nerve hyperexcitability was performed. Paraneoplastic antibodies, tumor markers, and anti-glutamic-acid decarboxylase antibodies were not detected, nor were autoantibodies to leucine-rich glioma inactivated-1 and contactin-associated protein-2. Chest and abdomen computed tomography was unrevealing. An electroencephalogram (EEG) showed occasional frontally predominant generalized delta slowing, which is usually considered a nonspecific EEG pattern. Brain magnetic resonance imaging findings were normal. Given the unremarkable initial workup, genetic testing was conducted. Diagnostic exome sequencing identified a novel variant, c.724G>A (p.Ala242Thr), in KCNA1 (NM_000217.3) (Fig. 1B). This KCNA1 variant was predicted to be likely pathogenic based on the American College of Medical Genetics and Genomics guidelines (PM1, PM2, PM5, PP2, and PP3).2 KCNA1 mutations are known to be associated with EA1, which is a potassium channelopathy characterized by brief attacks of ataxic gait with interictal myokymia.3 While the broad clinical spectrum includes EA1 with epilepsy and also epilepsy without EA1,3 isolated myokymia without EA1 or epilepsy is extremely rare: only two cases of isolated myokymia have been reported,4,5 and to our knowledge the present case is the first ","PeriodicalId":324902,"journal":{"name":"Journal of Clinical Neurology (Seoul, Korea)","volume":"41 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125328454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Results of a Survey on Diagnostic Procedures and Treatment Choices for Neuromyelitis Optica Spectrum Disorder in Korea: Beyond the Context of Current Clinical Guidelines","authors":"H. Lee, Su-Hyun Kim, J. Seok, Byung Jo Kim, H. Kim, B. Kim","doi":"10.3988/jcn.2022.18.2.207","DOIUrl":"https://doi.org/10.3988/jcn.2022.18.2.207","url":null,"abstract":"Background and Purpose Neuromyelitis optica spectrum disorder (NMOSD) is a rare demyelinating disease of the central nervous system (CNS). We investigated the medical behaviors of experts in Korea when they are diagnosing and treating NMOSD. Methods An anonymous questionnaire on the diagnosis and treatment of NMOSD was distributed to experts in CNS demyelinating diseases. Results Most respondents used the 2015 diagnostic criteria for NMOSD and applied a cerebrospinal fluid examination, magnetic resonance imaging (MRI) of the brain and spine, and anti-aquaporin-4 antibody testing to all suspected cases of NMOSD. All respondents prescribed steroid pulse therapy as an first-line therapy in the acute phase of NMOSD, and 67% prescribed azathioprine for maintenance therapy in NMOSD. However, details regarding monitoring, the tapering period of oral steroids, second-line therapy use in refractory cases, management during pregnancy, and schedule of follow-up MRI differed according to the circumstances of individual patients. We analyzed the differences in response rates between two groups of respondents according to the annual number of NMOSD patients that they treated. The group that had been treating ≥10 NMOSD patients annually preferred rituximab more often as the second-line therapy (p=0.011) and had more experience with rituximab treatment (p=0.015) compared with the group that had been treating <10 NMOSD patients. Conclusions This study has revealed that NMOSD experts in Korea principally follow the available treatment guidelines. However, the differences in specific clinical practices applied to uncertain cases that have been revealed will need to be investigated further in order to formulate suitable recommendations.","PeriodicalId":324902,"journal":{"name":"Journal of Clinical Neurology (Seoul, Korea)","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124399511","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}