Journal of Clinical Neurology最新文献

{"title":"Treatment Patterns and Persistence Among Patients Newly Diagnosed With Migraine in South Korea: A Retrospective Analysis of Health Claims Data.","authors":"Ki Yeon Kim, Hwa Yeon Ko, Sungho Bea, Ho-Jin Lee, Ju-Young Shin, Min Kyung Chu","doi":"10.3988/jcn.2023.0485","DOIUrl":"10.3988/jcn.2023.0485","url":null,"abstract":"<p><strong>Background and purpose: </strong>Migraine is one of the most common chronic neurological diseases worldwide. Although diverse treatment regimens have been recommended, there is insufficient evidence for which treatment patterns to apply in routine clinical settings.</p><p><strong>Methods: </strong>We used nationwide claims data from South Korea for 2015-2021 to identify incident migraine patients with at least one prescription for migraine. Patients were categorized according to their initial treatment classes and followed up from the date of treatment initiation. Treatment regimens included prophylactic treatments (antidepressants, anticonvulsants, beta blockers, calcium-channel blockers, and renin-angiotensin-aldosterone system [RAAS] inhibitors) and acute treatments (acetaminophen, antiemetics, aspirin, ergotamine, nonsteroidal anti-inflammatory drugs [NSAIDs], opioids, and triptans). The treatment patterns of migraine were evaluated until the end of the study period, including the secular trends, prevalence, persistence, and changes in migraine treatment.</p><p><strong>Results: </strong>Among the 761,350 included patients who received migraine treatment, the most frequently prescribed acute treatment was an NSAID (69.9%), followed by acetaminophen (50.0%). The most-prescribed prophylactic treatment was flunarizine (36.9%), followed by propranolol (24.4%). Among the patients, 54.8% received acute treatment, 13.5% received prophylactic treatment, and 31.6% received both treatment types. However, 65.7% of the patients discontinued their treatment within 3 months. The 3-month persistence rate was highest for triptans (25.2%) among the acute treatments and for RAAS inhibitors (62.0%) among the prophylactic treatments.</p><p><strong>Conclusions: </strong>While the prevalence rates of medication use were found to align with current migraine guidelines, frequent switching and rapid discontinuation of drugs were observed in routine clinical settings.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 5","pages":"529-536"},"PeriodicalIF":2.9,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372211/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bladder Dysfunction After Sacral Zoster Infection.","authors":"Taeho Seo, Yoo Jeong Roh, Dong Hyun Shin, Won Chan Kim","doi":"10.3988/jcn.2023.0481","DOIUrl":"10.3988/jcn.2023.0481","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 4","pages":"459-461"},"PeriodicalIF":2.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11220346/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unusual Voltage-Gated Sodium and Potassium Channelopathies Related to Epilepsy.","authors":"Hui Jin Shin, Ara Ko, Se Hee Kim, Joon Soo Lee, Hoon-Chul Kang","doi":"10.3988/jcn.2023.0435","DOIUrl":"10.3988/jcn.2023.0435","url":null,"abstract":"<p><strong>Background and purpose: </strong>There is extensive literature on monogenic epilepsies caused by mutations in familiar channelopathy genes such as <i>SCN1A</i>. However, information on other less-common channelopathy genes is scarce. This study aimed to explore the genetic and clinical characteristics of patients diagnosed with unusual voltage-gated sodium and potassium channelopathies related to epilepsy.</p><p><strong>Methods: </strong>This observational, retrospective study analyzed pediatric patients with epilepsy who carried pathogenic variants of unusual voltage-gated sodium and potassium channelopathy genes responsible for seizure-associated phenotypes. Targeted next-generation sequencing (NGS) panel tests were performed between November 2016 and June 2022 at Severance Children's Hospital, Seoul, South Korea. Clinical characteristics and the treatment responses to different types of antiseizure medications were further analyzed according to different types of gene mutation.</p><p><strong>Results: </strong>This study included 15 patients with the following unusual voltage-gated sodium and potassium channelopathy genes: <i>SCN3A</i> (<i>n</i>=1), <i>SCN4A</i> (<i>n</i>=1), <i>KCNA1</i> (<i>n</i>=1), <i>KCNA2</i> (<i>n</i>=4), <i>KCNB1</i> (<i>n</i>=6), <i>KCNC1</i> (<i>n</i>=1), and <i>KCNMA1</i> (<i>n</i>=1). NGS-based genetic testing identified 13 missense mutations (87%), 1 splice-site variant (7%), and 1 copy-number variant (7%). Developmental and epileptic encephalopathy was diagnosed in nine (60%) patients. Seizure freedom was eventually achieved in eight (53%) patients, whereas seizures persisted in seven (47%) patients.</p><p><strong>Conclusions: </strong>Our findings broaden the genotypic and phenotypic spectra of less-common voltage-gated sodium and potassium channelopathies associated with epilepsy.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 4","pages":"402-411"},"PeriodicalIF":2.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11220354/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Behavioral Activation and Brain Network Changes in Depression.","authors":"Minjee Jung, Kyu-Man Han","doi":"10.3988/jcn.2024.0148","DOIUrl":"10.3988/jcn.2024.0148","url":null,"abstract":"<p><p>Behavioral activation (BA) is a well-established method of evidence-based treatment for depression. There are clear links between the neural mechanisms underlying reward processing and BA treatment for depressive symptoms, including anhedonia; however, integrated interpretations of these two domains are lacking. Here we examine brain imaging studies involving BA treatments to investigate how changes in brain networks, including the reward networks, mediate the therapeutic effects of BA, and whether brain circuits are predictors of BA treatment responses. Increased activation of the prefrontal and subcortical regions associated with reward processing has been reported after BA treatment. Activation of these regions improves anhedonia. Conversely, some studies have found decreased activation of prefrontal regions after BA treatment in response to cognitive control stimuli in sad contexts, which indicates that the therapeutic mechanism of BA may involve disengagement from negative or sad contexts. Furthermore, the decrease in resting-state functional connectivity of the default-mode network after BA treatment appears to facilitate the ability to counteract depressive rumination, thereby promoting enjoyable and valuable activities. Conflicting results suggest that an intact neural response to rewards or defective reward functioning is predictive of the efficacy of BA treatments. Increasing the benefits of BA treatments requires identification of the unique individual characteristics determining which of these conflicting findings are relevant for the personalized treatment of each individual with depression.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 4","pages":"362-377"},"PeriodicalIF":2.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11220350/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genome-Wide Architecture of East Asian Patients With Migraine: A Genome-Wide Association Study Based on Familial History.","authors":"Joonho Kim, Min Kyung Chu","doi":"10.3988/jcn.2024.0241","DOIUrl":"10.3988/jcn.2024.0241","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 4","pages":"351-352"},"PeriodicalIF":2.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11220348/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy of Cerebellar Transcranial Magnetic Stimulation in Treating Essential Tremor: A Randomized, Sham-Controlled Trial.","authors":"Ahmad Farag Ibrahim El-Adawy, Mohamed Al-Bahay M G Reda, Ali Mahmoud Ahmed, Mohamed Hamed Rashad, Mohamed Ahmed Zaki, Mohie-Eldin Tharwat Mohamed, Mohammad Ali Saeed Hassan, Mohammad Fathi Abdulsalam, Abdelmonem M Hassan, Ahmed Fathy Mohamed, Abdel-Ghaffar Ismail Fayed, Mostafa Meshref, Fathy Mahmoud Mansour, Ahmed E Sarhan, Ahmed Hassan Elsheshiny, Elsayed Abed","doi":"10.3988/jcn.2023.0348","DOIUrl":"10.3988/jcn.2023.0348","url":null,"abstract":"<p><strong>Background and purpose: </strong>Repetitive transcranial magnetic stimulation (rTMS) of the cerebellar hemisphere represents a new option in treating essential tremor (ET) patients. We aimed to determine the efficacy of cerebellar rTMS in treating ET using different protocols regarding the number of sessions, exposure duration, and follow-up duration.</p><p><strong>Methods: </strong>A randomized sham-controlled trial was conducted, in which 45 recruit patients were randomly allocated to 2 groups. The first (active group) comprised 23 patients who were exposed to 12 sessions of active rTMS with 900 pulses of 1-Hz rTMS at 90% of the resting motor threshold daily on each side of the cerebellar hemispheres over 4 weeks. The second group (sham group) comprised 22 patients who were exposed to 12 sessions of sham rTMS. Both groups were reassessed at baseline and after 1 day, 1 month, 2 months, and 3 months using the Fahn-Tolosa-Marin tremor-rating scale (FTM).</p><p><strong>Results: </strong>Demographic characteristics did no differ between the two groups. There were significant reductions both in FTM subscores A and B and in the FTM total score in the active-rTMS group during the period of assessment and after 3 months (<i>p</i>=0.031 and 0.011, respectively). However, subscore C did not change significantly from baseline when assessed at 2 and 3 months (<i>p</i>=0.073 and 0.236, respectively). Furthermore, the global assessment score was significantly higher in the active-rTMS group (<i>p</i>>0.001).</p><p><strong>Conclusions: </strong>Low-frequency rTMS over the cerebellar cortex for 1 month showed relative safety and long-lasting efficacy in patients with ET. Further large-sample clinical trials are needed that include different sites of stimulation and longer follow-ups.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 4","pages":"378-384"},"PeriodicalIF":2.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11220355/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Risk Loci and Familial Associations in Migraine: A Genome-Wide Association Study in the Han Chinese Population of Taiwan.","authors":"Yi Liu, Po-Kuan Yeh, Yu-Kai Lin, Chih-Sung Liang, Chia-Lin Tsai, Guan-Yu Lin, Yu-Chin An, Ming-Chen Tsai, Kuo-Sheng Hung, Fu-Chi Yang","doi":"10.3988/jcn.2023.0331","DOIUrl":"10.3988/jcn.2023.0331","url":null,"abstract":"<p><strong>Background and purpose: </strong>Migraine is a condition that is often observed to run in families, but its complex genetic background remains unclear. This study aimed to identify the genetic factors influencing migraines and their potential association with the family medical history.</p><p><strong>Methods: </strong>We performed a comprehensive genome-wide association study of a cohort of 1,561 outpatients with migraine and 473 individuals without migraine in Taiwan, including Han Chinese individuals with or without a family history of migraine. By analyzing the detailed headache history of the patients and their relatives we aimed to isolate potential genetic markers associated with migraine while considering factors such as sex, episodic vs. chronic migraine, and the presence of aura.</p><p><strong>Results: </strong>We revealed novel genetic risk loci, including rs2287637 in DEAD-Box helicase 1 and long intergenic non-protein coding RNA 1804 and rs12055943 in engulfment and cell motility 1, that were correlated with the family history of migraine. We also found a genetic location downstream of mesoderm posterior BHLH transcription factor 2 associated with episodic migraine, whereas loci within the ubiquitin-specific peptidase 26 exonic region, dual specificity phosphatase 9 and pregnancy-upregulated non-ubiquitous CaM kinase intergenic regions, and poly (ADP-ribose) polymerase 1 and <i>STUM</i> were linked to chronic migraine. We additionally identified genetic regionsassociated with the presence or absence of aura. A locus between <i>LINC02561</i> and urocortin 3 was predominantly observed in female patients. Moreover, three different single-nucleotide polymorphisms were associated with the family history of migraine in the control group.</p><p><strong>Conclusions: </strong>This study has identified new genetic locations associated with migraine and its family history in a Han Chinese population, reinforcing the genetic background of migraine. The findings point to potential candidate genes that should be investigated further.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 4","pages":"439-449"},"PeriodicalIF":2.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11220351/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multiple Acyl-CoA Dehydrogenase Deficiency: Phenotypic and Genetic Features of a Malaysian Cohort.","authors":"Jie Ping Schee, Joo San Tan, Cheng Yin Tan, Nortina Shahrizaila, Kum Thong Wong, Khean Jin Goh","doi":"10.3988/jcn.2023.0265","DOIUrl":"10.3988/jcn.2023.0265","url":null,"abstract":"<p><strong>Background and purpose: </strong>Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited disorder of fatty acid oxidation that causes lipid storage myopathy (LSM). This is the first report on MADD that describes the phenotypic and genetic features of a Malaysian cohort.</p><p><strong>Methods: </strong>Among the >2,500 patients in a local muscle biopsy database, patients with LSM were identified and their genomic DNA were extracted from muscle samples and peripheral blood. All 13 exons of the electron-transfer flavoprotein dehydrogenase gene (<i>ETFDH</i>) were subsequently sequenced. Fifty controls were included to determine the prevalence of identified mutations in the normal population.</p><p><strong>Results: </strong>Fourteen (82%) of the 17 LSM patients had MADD with <i>ETFDH</i> mutations. Twelve (86%) were Chinese and two were Malay sisters. Other unrelated patients reported that they had no relevant family history. Nine (64%) were females. The median age at onset was 18.5 years (interquartile range=16-37 years). All 14 demonstrated proximal limb weakness, elevated serum creatine kinase levels, and myopathic changes in electromyography. Three patients experienced a metabolic crisis at their presentation. Sanger sequencing of <i>ETFDH</i> revealed nine different variants/mutations, one of which was novel: c.998A>G (p.Y333C) in exon 9. Notably, 12 (86%) patients, including the 2 Malay sisters, carried a common c.250G>A (p.A84T) variant, consistent with the hotspot mutation reported in southern China. All of the patients responded well to riboflavin therapy.</p><p><strong>Conclusions: </strong>Most of our Malaysian cohort with LSM had late-onset, riboflavin-responsive MADD with <i>ETFDH</i> mutations, and they demonstrated phenotypic and genetic features similar to those of cases reported in southern China. Furthermore, we report a novel <i>ETFDH</i> mutation and possibly the first ever MADD patients of Malay descent.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 4","pages":"422-430"},"PeriodicalIF":2.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11220347/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Manifestations and Prognosis of Anti-Signal-Recognition-Particle Myositis.","authors":"Seol-Hee Baek, Kyomin Choi, Hyunjin Ju, Jeeyoung Oh, Byoung Joon Kim, Byung-Jo Kim","doi":"10.3988/jcn.2024.0007","DOIUrl":"10.3988/jcn.2024.0007","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 4","pages":"456-458"},"PeriodicalIF":2.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11220360/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476707","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dynamic 3D CT Angiography can Detect Swallowing and Head-Rotation-Induced Location Inversion Between the Carotid Artery and Hyoid Bone in Asymptomatic Carotid Artery Stenosis.","authors":"Yuko Honda, Hiroyuki Kawano, Sayuri Fujita, Teruyuki Hirano","doi":"10.3988/jcn.2023.0423","DOIUrl":"10.3988/jcn.2023.0423","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 4","pages":"450-452"},"PeriodicalIF":2.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11220357/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}