Journal of Clinical Neurology最新文献

{"title":"Creutzfeldt-Jakob Disease With Double Mutations at Codon 180 and Codon 232 of <i>PRNP</i>.","authors":"Sumin Kim, Yong-Sun Kim, Kee Duk Park, Seung-Ah Lee","doi":"10.3988/jcn.2024.0431","DOIUrl":"10.3988/jcn.2024.0431","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 1","pages":"74-76"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11711275/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949626","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":"Proprioceptive-Induced Reflex Seizure Mimicking Paroxysmal Kinesigenic Dyskinesia in Leucine-Rich Glioma-Inactivated 1 Antibody Encephalitis.","authors":"Ji-Ye Jeon, Yohan Ju, Jun Yeun Cho, Aryun Kim","doi":"10.3988/jcn.2024.0127","DOIUrl":"10.3988/jcn.2024.0127","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 1","pages":"86-88"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11711271/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949634","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":"Motivators and Barriers Affecting Exercise in Patients With Parkinson's Disease.","authors":"Minkyeong Kim, Eunji Kim, Minjun Kim, Seok Min Moon, Minjung Kim, Dukjoong Kim, Seoung Hyeon Je, Heeyoung Kang","doi":"10.3988/jcn.2024.0328","DOIUrl":"10.3988/jcn.2024.0328","url":null,"abstract":"<p><strong>Background and purpose: </strong>Parkinson's disease (PD) significantly impacts the quality of life via both motor and nonmotor symptoms. Exercise is a valuable nonpharmacological intervention that can alleviate PD symptoms and slow disease progression. Understanding the factors that motivate and restrict exercise in PD patients is essential for promoting engagement. This study aimed to identify the motivators and barriers affecting exercise in PD patients.</p><p><strong>Methods: </strong>This cross-sectional study assessed exercise habits, motivators, and barriers among PD patients with a modified Hoehn and Yahr stage of ≤2.5. Participants were categorized into non-, low-, and high-exercise groups based on the World Health Organization guidelines. The International Physical Activity Questionnaire, the Korean version of the Sport Motivation Scale, and a barriers-to-exercise questionnaire were utilized.</p><p><strong>Results: </strong>Data from 165 of 196 enrolled patients were analyzed: 28 (17.0%), 88 (53.3%), and 49 (29.7%) in the non-, low-, and high-exercise groups, respectively. The nonexercise group demonstrated higher levels of fatigue and apathy, and more-severe cardiovascular, mood, intellectual, attention, gastrointestinal, and urinary symptoms. While all groups recognized the benefit of exercise, those in the nonexercise group viewed PD symptoms and depressive mood as major barriers, whereas those in the high-exercise group were primarily motivated by personal satisfaction.</p><p><strong>Conclusions: </strong>This study highlights the importance of enjoyment and personal satisfaction to the maintenance of exercise habits among PD patients. By enhancing specific motivators and overcoming barriers, particularly PD symptoms and related nonmotor symptoms, tailored interventions can be implemented to increase exercise adherence and, eventually, improve the quality of life of PD patients.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 1","pages":"13-20"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11711269/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949629","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":"Predicting Parkinson's Disease Using a Deep-Learning Algorithm to Analyze Prodromal Medical and Prescription Data.","authors":"Youngwook Koo, Minki Kim, Woong-Woo Lee","doi":"10.3988/jcn.2024.0175","DOIUrl":"10.3988/jcn.2024.0175","url":null,"abstract":"<p><strong>Background and purpose: </strong>Parkinson's disease (PD) is characterized by various prodromal symptoms, and these symptoms are mostly investigated retrospectively. While some symptoms such as rapid eye movement sleep behavior disorder are highly specific, others are common. This makes it challenging to predict those at risk of PD based solely on less-specific prodromal symptoms. The prediction accuracy when using only less-specific symptoms can be improved by analyzing the vast amount of information available using sophisticated deep-learning techniques. This study aimed to improve the performance of deep-learning-based screening in detecting prodromal PD using medical-claims data, including prescription information.</p><p><strong>Methods: </strong>We sampled 820 PD patients and 8,200 age- and sex-matched non-PD controls from Korean National Health Insurance cohort data. A deep-learning algorithm was developed using various combinations of diagnostic codes, medication codes, and prodromal periods.</p><p><strong>Results: </strong>During the prodromal period from year -3 to year 0, predicting PD using only diagnostic codes yielded a high accuracy of 0.937. Adding medication codes for the same period did not increase the accuracy (0.931-0.935). For the earlier prodromal period (year -6 to year -3), the accuracy of PD prediction decreased to 0.890 when using only diagnostic codes. The inclusion of all medication-codes data increased that accuracy markedly to 0.922.</p><p><strong>Conclusions: </strong>A deep-learning algorithm using both prodromal diagnostic and medication codes was effective in screening PD. Developing a surveillance system with automatically collected medical-claims data for those at risk of developing PD could be cost-effective. This approach could streamline the process of developing disease-modifying drugs by focusing on the most-appropriate candidates for inclusion in accurate diagnostic tests.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 1","pages":"21-30"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11711266/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949632","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":"Safety and Tolerability of Wharton's Jelly-Derived Mesenchymal Stem Cells for Patients With Duchenne Muscular Dystrophy: A Phase 1 Clinical Study.","authors":"Jiwon Lee, Sang Eon Park, Mira Kim, Hyeongseop Kim, Jeong-Yi Kwon, Hong Bae Jeon, Jong Wook Chang, Jeehun Lee","doi":"10.3988/jcn.2024.0299","DOIUrl":"10.3988/jcn.2024.0299","url":null,"abstract":"<p><strong>Background and purpose: </strong>This study was an open-label, dose-escalation, phase 1 clinical trial to determine the safety and dose of EN001 for patients with Duchenne muscular dystrophy (DMD). EN001, developed by ENCell, are allogeneic early-passage Wharton's jelly-derived mesenchymal stem cells that originate at the umbilical cord, with preclinical studies demonstrating their high therapeutic efficacy for DMD.</p><p><strong>Methods: </strong>This phase 1 clinical trial explored the safety and tolerability of EN001 as a potential treatment option for patients with DMD. Six pediatric participants with DMD were divided into two subgroups of equal size: low-dose EN001 (5.0×10⁵ cells/kg) and high-dose EN001 (2.5×10⁶ cells/kg). All participants were monitored for 12 weeks after EN001 administration to assess its safety. Dose-limiting toxicity (DLT) was evaluated across 2 weeks post administration. Exploratory efficacy was evaluated by measuring serum creatine kinase levels, and functional evaluations-including spirometry, myometry, the North Star Ambulatory Assessment, and the 6-minute walk test-were conducted at week 12 and compared with the baseline values.</p><p><strong>Results: </strong>No participants experienced serious adverse events related to EN001 injection during the 12-week follow-up period. Mild adverse events included injection-related local erythema, edema, parosmia, and headache, but DLT was not observed. Functional evaluations at week 12 revealed no significant changes from baseline.</p><p><strong>Conclusions: </strong>These results demonstrated that EN001 are safe and well tolerated for patients with DMD, and did not cause serious adverse events. The efficacy of EN001 could be confirmed through larger-scale future studies that incorporate repeated dosing and have a randomized controlled trial design.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 1","pages":"40-52"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11711273/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949635","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":"\"Ear of the Lynx\" Sign in Hereditary Spastic Paraplegia 76.","authors":"Myung Jun Lee, Hyung Jun Park, Jae Meen Lee, Jae-Hyeok Lee","doi":"10.3988/jcn.2024.0234","DOIUrl":"10.3988/jcn.2024.0234","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 1","pages":"77-79"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11711263/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949622","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":"Differentiating Inclusion Body Myositis From Amyotrophic Lateral Sclerosis Based on the Features of Dysphagia: Insights From a Patient With Rapidly Progressive Dysphagia.","authors":"Yuri Je, Young-Eun Park, Yong Beom Shin","doi":"10.3988/jcn.2024.0134","DOIUrl":"10.3988/jcn.2024.0134","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 1","pages":"83-85"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11711274/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949627","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":"Case Series of Right-Hemisphere Nonfluent Variant of Primary Progressive Aphasia.","authors":"Yun Tae Hwang, Sau Chi Cheung, Olivier Piguet, James R Burrell, Cristian E Leyton","doi":"10.3988/jcn.2023.0451","DOIUrl":"10.3988/jcn.2023.0451","url":null,"abstract":"<p><strong>Background and purpose: </strong>Nonfluent variant primary progressive aphasia (nfvPPA) is a neurodegenerative disorder characterized by the progressive deterioration of language functions that typically appears with atrophy predominating in the left peri-insular region (left-nfvPPA) on imaging. While both left-dominant and right-dominant presentations have been reported in semantic variant primary progressive aphasia, the other language presentation of frontotemporal dementia, no case series of nfvPPA with predominantly right-sided atrophy of the peri-insular region (right-nfvPPA) have been reported previously. This study explored whether such entities exist and what their clinical features might be.</p><p><strong>Methods: </strong>A retrospective review of brain imaging data obtained from an established cohort of patients diagnosed with nfvPPA was performed to identify right-nfvPPA cases, followed by detailed analyses of their clinical profiles and imaging results compared to matched typical left-nfvPPA cases and healthy control group.</p><p><strong>Results: </strong>Four of 55 individuals meeting the consensus diagnostic criteria for nfvPPA demonstrated right-nfvPPA. No significant differences were noted in their clinical and neuropsychological profiles. Detailed imaging analyses demonstrated that the individuals with right-nfvPPA did not demonstrate atrophy of the anterior cingulate gyrus, unlike those in the left-nfvPPA group.</p><p><strong>Conclusions: </strong>This study has revealed several intriguing differences between right-nfvPPA and left-nfvPPA, particularly in the prevalence of impairments in motor speech and naming as well as imaging differences. These findings warrant further exploration in a larger cohort to improve our understanding of neural network organization and its dysfunction in neurodegenerative disorders.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 1","pages":"3-12"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11711270/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949623","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":"Phenotype of Relapsing Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease in Children.","authors":"Ji Yeon Han, Soo Yeon Kim, Woojoong Kim, Hunmin Kim, Anna Cho, Jieun Choi, Jong-Hee Chae, Ki Joong Kim, Young Se Kwon, Il Han Yoo, Byung Chan Lim","doi":"10.3988/jcn.2024.0276","DOIUrl":"10.3988/jcn.2024.0276","url":null,"abstract":"<p><strong>Background and purpose: </strong>To determine the clinical phenotypes, relapse timing, treatment responses, and outcomes of children with relapsing myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD).</p><p><strong>Methods: </strong>We collected the demographic, clinical, laboratory, and radiological data of patients aged <18 years who had been diagnosed with MOGAD at Seoul National University Children's Hospital between January 2010 and January 2022; 100 were identified as positive for MOG antibodies, 43 of whom experienced relapse.</p><p><strong>Results: </strong>The median age at onset was 7 years (range 2-16 years). The median number of relapses was 2 (range 1-8), and patients were followed up for a median of 65 months (range 5-214 months). The first relapse was experienced before 3 months from onset by 15 patients (34.9%). The most-common initial phenotypes were acute disseminated encephalomyelitis (<i>n</i>=17, 39.5%) and optic neuritis (ON; <i>n</i>=11, 25.6%). The most-common relapse phenotypes were neuromyelitis optica spectrum disorder (<i>n</i>=9, 20.9%), relapsing ON (<i>n</i>=6, 14.0%), and multiphasic disseminated encephalomyelitis (<i>n</i>=6, 14.0%). Many of the patients (<i>n</i>=18, 41.9%) were not specifically categorized. A high proportion of these patients had non-acute disseminated encephalomyelitis encephalitis. Atypical phenotypes such as prolonged fever or hemiplegic migraine-like episodes were also noted. Mycophenolate mofetil and cyclic immunoglobulin treatment significantly reduced the annual relapse rates.</p><p><strong>Conclusions: </strong>Our 43 pediatric patients with relapsing MOGAD showed a tendency toward early relapse and various relapse phenotypes. The overall prognoses of these patients were good regardless of phenotype or response to second-line immunosuppressant treatment.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 1","pages":"65-73"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11711267/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949630","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":"Predicting All-Cause Mortality in Patients With Obstructive Sleep Apnea Using Sleep-Related Features: A Machine-Learning Approach.","authors":"Hyun-Ji Kim, Hakseung Kim, Dong-Joo Kim","doi":"10.3988/jcn.2024.0038","DOIUrl":"10.3988/jcn.2024.0038","url":null,"abstract":"<p><strong>Background and purpose: </strong>Obstructive sleep apnea (OSA) is associated with an increased risk of adverse outcomes, including mortality. Machine-learning algorithms have shown potential in predicting clinical outcomes in patients with OSA. This study aimed to develop and evaluate a machine-learning algorithm for predicting 10- and 15-year all-cause mortality in patients with OSA.</p><p><strong>Methods: </strong>Patients with OSA were stratified into deceased and alive groups based on mortality outcomes. Various sleep-related features were analyzed, including objective sleep measures and the heart-rate variability during various sleep stages. The light gradient-boosting machine (LGBM) algorithm was employed to construct a risk-stratification model. The predictive performance of the model was assessed using the area under the receiver operating characteristic curve (AUC) for predicting mortality over 10 and 15 years. Survival analysis was conducted using Kaplan-Meier plots and Cox proportional-hazards model.</p><p><strong>Results: </strong>This study found that parasympathetic activity was higher in OSA patients with worse outcomes than in those with better outcomes. The LGBM-based prediction model with sleep-related features was moderately accurate, with a mean AUC of 0.806 for predicting 10- and 15-year mortality. Furthermore, survival analysis demonstrated that LGBM could significantly distinguish the high- and low-risk groups, as evidenced by Kaplan-Meier plots and Cox regression results.</p><p><strong>Conclusions: </strong>This study has confirmed the potential of sleep-related feature analysis and the LGBM algorithm for evaluating the mortality risk in OSA patients. The developed risk-stratification model offers an efficient and interpretable tool for clinicians that emphasizes the significance of patient-specific autonomic responses in mortality prediction. Incorporating survival analysis further validated the robustness of the model in predicting long-term outcomes.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 1","pages":"53-64"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11711268/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949631","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}