Journal of Clinical Neurology最新文献

{"title":"Predicting the Progression of Mild Cognitive Impairment to Alzheimer's Dementia Using Recurrent Neural Networks With a Series of Neuropsychological Tests.","authors":"Chaeyoon Park, Gihun Joo, Minji Roh, Seunghun Shin, Sujin Yum, Na Young Yeo, Sang Won Park, Jae-Won Jang, Hyeonseung Im","doi":"10.3988/jcn.2023.0289","DOIUrl":"10.3988/jcn.2023.0289","url":null,"abstract":"<p><strong>Background and purpose: </strong>The prevalence of Alzheimer's dementia (AD) is increasing as populations age, causing immense suffering for patients, families, and communities. Unfortunately, no treatments for this neurodegenerative disease have been established. Predicting AD is therefore becoming more important, because early diagnosis is the best way to prevent its onset and delay its progression.</p><p><strong>Methods: </strong>Mild cognitive impairment (MCI) is the stage between normal cognition and AD, with large variations in its progression. The disease can be effectively managed by accurately predicting the probability of MCI progressing to AD over several years. In this study we used the Alzheimer's Disease Neuroimaging Initiative dataset to predict the progression of MCI to AD over a 3-year period from baseline. We developed and compared various recurrent neural network (RNN) models to determine the predictive effectiveness of four neuropsychological (NP) tests and magnetic resonance imaging (MRI) data at baseline.</p><p><strong>Results: </strong>The experimental results confirmed that the Preclinical Alzheimer's Cognitive Composite score was the most effective of the four NP tests, and that the prediction performance of the NP tests improved over time. Moreover, the gated recurrent unit model exhibited the best performance among the prediction models, with an average area under the receiver operating characteristic curve of 0.916.</p><p><strong>Conclusions: </strong>Timely prediction of progression from MCI to AD can be achieved using a series of NP test results and an RNN, both with and without using the baseline MRI data.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 5","pages":"478-486"},"PeriodicalIF":2.9,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372213/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125857","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":"Impact of Apolipoprotein E ε4 in Alzheimer's Disease: Insights From a Meta-Analysis.","authors":"Hyuk Sung Kwon, Seong-Ho Koh","doi":"10.3988/jcn.2024.0353","DOIUrl":"10.3988/jcn.2024.0353","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 5","pages":"467-468"},"PeriodicalIF":2.9,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372208/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125853","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":"Customized Visual Discrimination Digital Therapy According to Visual Field Defects in Chronic Stroke Patients.","authors":"Eun Namgung, Hana Kim, Yong-Hwan Kim, Young-Sun Kim, Eun-Jae Lee, Jee-Hyun Lee, Yuka Sasaki, Takeo Watanabe, Dong-Wha Kang","doi":"10.3988/jcn.2024.0015","DOIUrl":"10.3988/jcn.2024.0015","url":null,"abstract":"<p><strong>Background and purpose: </strong>Visual perceptual learning (VPL) may improve visual field defects (VFDs) after chronic stroke, but the optimal training duration and location remain unknown. This prospective study aimed to determine the efficacy of 8 weeks of VFD-customized visual discrimination training in improving poststroke VFDs.</p><p><strong>Methods: </strong>Prospectively enrolled patients with poststroke VFDs initially received no training for 8 weeks (no-training phase). They subsequently underwent our customized VPL program that included orientation-discrimination tasks in individualized blind fields and central letter-discrimination tasks three times per week for 8 weeks (training phase). We analyzed the luminance detection sensitivity and deviation as measured using Humphrey visual field tests before and after the no-training and training phases. The vision-related quality of life was assessed at baseline and at a 16-week follow-up using the National Eye Institute Visual Function Questionnaire-25 (NEI-VFQ-25).</p><p><strong>Results: </strong>Changes in mean total deviation (MTD) scores were greater during the training phase than during the no-training phase (defective hemifield, <i>p</i>=0.002; whole field, <i>p</i>=0.004). The MTD scores improved during the training phase (defective hemifield, <i>p</i>=0.004; whole field, <i>p</i>=0.016), but not during the no-training phase (defective hemifield, <i>p</i>=0.178; whole field, <i>p</i>=0.178). The difference between the improved and worsened areas (≥6 dB changes in luminance detection sensitivity) was greater during the training phase than during the no-training phase (<i>p</i>=0.009). The vision-specific social functioning subscore of the NEI-VFQ-25 improved after the 16-week study period (<i>p</i>=0.040).</p><p><strong>Conclusions: </strong>Our 8-week VFD-customized visual discrimination training protocol may effectively improve VFDs and vision-specific social functioning in chronic stroke patients.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 5","pages":"509-518"},"PeriodicalIF":2.9,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372206/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125840","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":"Impact of Apolipoprotein E ε4 in Alzheimer's Disease: A Meta-Analysis of Voxel-Based Morphometry Studies.","authors":"Madison Bailey, Zlatomira G Ilchovska, Akram A Hosseini, JeYoung Jung","doi":"10.3988/jcn.2024.0176","DOIUrl":"10.3988/jcn.2024.0176","url":null,"abstract":"<p><strong>Background and purpose: </strong>Alzheimer's disease (AD) is the most-prevalent form of dementia and imposes substantial burdens at the personal and societal levels. The apolipoprotein E (APOE) ε4 allele is a genetic factor known to increase AD risk and exacerbate brain atrophy and its symptoms. We aimed to provide a comprehensive review of the impacts of APOE ε4 on brain atrophy in AD as well as in mild cognitive impairment (MCI) as a transitional stage of AD.</p><p><strong>Methods: </strong>We performed a coordinate-based meta-analysis of voxel-based morphometry studies to compare gray-matter atrophy patterns between carriers and noncarriers of APOE ε4. We obtained coordinate-based structural magnetic resonance imaging data from 1,135 individuals who met our inclusion criteria among 12 studies reported in PubMed and Google Scholar.</p><p><strong>Results: </strong>We found that atrophy of the hippocampus and parahippocampus was significantly greater in APOE ε4 carriers than in noncarriers, especially among those with AD and MCI, while there was no significant atrophy in these regions in healthy controls who were also carriers.</p><p><strong>Conclusions: </strong>The present meta-analysis has highlighted the significant link between the APOE ε4 allele and hippocampal atrophy in both AD and MCI, which emphasizes the critical influence of the allele on neurodegeneration, especially in the hippocampus. These findings improve the understanding of AD pathology, potentially facilitating progress in early detection, targeted interventions, and personalized care strategies for individuals at risk of AD who carry the APOE ε4 allele.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 5","pages":"469-477"},"PeriodicalIF":2.9,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372214/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125852","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":"Potential Benefits of Using Artificial Intelligence to Diagnose Alzheimer's Disease.","authors":"Jakub Cecot, Konrad Zarzecki, Miłosz Mandryk","doi":"10.3988/jcn.2024.0288","DOIUrl":"10.3988/jcn.2024.0288","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 5","pages":"548-549"},"PeriodicalIF":2.9,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372216/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125856","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":"Refractory Status Epilepticus Associated With Dialysis Disequilibrium Syndrome.","authors":"Jaehyeong An, Ji Yun Kang, Hyun Kyung Kim","doi":"10.3988/jcn.2024.0059","DOIUrl":"10.3988/jcn.2024.0059","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 5","pages":"542-544"},"PeriodicalIF":2.9,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372203/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125859","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":"Long-Term Outcome of Motor Functional Neurological Disorder After Rehabilitation.","authors":"Thibault Schneider, Beatrice Leemann, Nicolas Nicastro, Armin Schnider","doi":"10.3988/jcn.2023.0246","DOIUrl":"10.3988/jcn.2023.0246","url":null,"abstract":"<p><strong>Background and purpose: </strong>Functional neurological disorder (FND) is defined as the presence of neurological symptoms that are inconsistent with a neurological disease. We performed a single-center retrospective study aimed at determining the long-term outcome of FND patients receiving inpatient rehabilitation and the predictors of a good outcome.</p><p><strong>Methods: </strong>A multidisciplinary graded exercise program was provided with one or two daily physiotherapy and occupational therapy sessions on 5 days each week, as well as weekly psychological support. Outcome was assessed using the motor part of the Functional Independence Measure scale (FIM; maximum score of 91) at admission, discharge, and follow-up, with the last assessment performed by phone interview.</p><p><strong>Results: </strong>The 30 included patients were aged 43.6±14.7 years (mean±standard deviation), comprised 70% females, and received a mean of 4 weeks of rehabilitation. The admission FIM score (80.2±8.3) was significantly lower than the discharge FIM score (86.9±4.6; <i>p</i><0.001, Wilcoxon signed-rank test). No notable difference was observed between discharge and follow-up FIM scores (85.5±8.5, <i>p</i>=0.54). The mean follow-up of the 36-month FIM scores at discharge and follow-up was dichotomized as a good outcome in cases where all items were scored ≥6 (functional independence). Binomial logistic regression showed that absence of a comorbid psychiatric disorder (<i>p</i>=0.039, odds ratio=10.7) was a predictive factor for a good outcome at follow-up. Other variables (e.g., sex and age) were not significant predictors of clinical outcome (all <i>p</i>≥0.058).</p><p><strong>Conclusions: </strong>These results suggest inpatient intensive rehabilitation for motor FND is effective and produces favorable long-term results. Further studies with larger groups are warranted so that the management protocols can be standardized.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 5","pages":"493-500"},"PeriodicalIF":2.9,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372205/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125854","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":"Recurrent Seizures in a Case of Linear Scleroderma En Coup de Sabre.","authors":"Soo Hyun Ahn, Han Sang Lee, Seunghan Yeom, Kyung-Il Park","doi":"10.3988/jcn.2024.0057","DOIUrl":"10.3988/jcn.2024.0057","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 5","pages":"545-547"},"PeriodicalIF":2.9,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372204/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125858","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":"Withdrawal of Life-Sustaining Mechanical Ventilation for a Patient With Amyotrophic Lateral Sclerosis in Locked-In Syndrome.","authors":"Seok-Jin Choi, Shin Hye Yoo, Sun Young Lee, Jung-Joon Sung","doi":"10.3988/jcn.2024.0249","DOIUrl":"10.3988/jcn.2024.0249","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 5","pages":"537-538"},"PeriodicalIF":2.9,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372215/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125863","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 Diagnosis in Neonatal Encephalopathy With Hypoxic Brain Damage Using Targeted Gene Panel Sequencing.","authors":"Sangbo Lee, Se Hee Kim, Heung Dong Kim, Joon Soo Lee, Ara Ko, Hoon-Chul Kang","doi":"10.3988/jcn.2023.0500","DOIUrl":"10.3988/jcn.2023.0500","url":null,"abstract":"<p><strong>Background and purpose: </strong>Neonatal encephalopathy (NE) is a neurological syndrome that presents with severe neurological impairments and complications. Hypoxic-ischemic encephalopathy is a major contributor to poor outcomes, being responsible for 50%-80% of admissions to neonatal intensive care units. However, some cases of NE accompanied by hypoxic brain damage cannot be solely attributed to hypoxia-ischemia. We aimed to identify diverse pathogenic genetic variations that may be associated with cases of NE accompanied by hypoxic brain damage rather than hypoxia-ischemia.</p><p><strong>Methods: </strong>We collected data from 34 patients diagnosed with NE accompanied by hypoxic brain damage over a 10-year period. Patients with the following specific conditions were excluded: 1) premature birth (<32 weeks), 2) no history of hypoxic events, 3) related anomalies, 4) neonatal infections, 5) antenatal or perinatal obstetrical complications, 6) severe hypoxia due to other medical conditions, and 7) early death (within 1 week). A comprehensive review of clinical and radiological features was conducted.</p><p><strong>Results: </strong>A genetic diagnosis was made in 11 (32.4%) patients, with pathogenic variants being identified in the following 9 genes: <i>CACNA1A</i> (<i>n</i>=2), <i>KCNQ2</i> (<i>n</i>=2), <i>SCN2A</i> (<i>n</i>=1), <i>SCN8A</i> (<i>n</i>=1), <i>STXBP1</i> (<i>n</i>=1), <i>NSD1</i> (<i>n</i>=1), <i>PURA</i> (<i>n</i>=1), <i>ZBTB20</i> (<i>n</i>=1), and <i>ENG</i> (<i>n</i>=1). No specific treatment outcomes or clinical features other than preterm birth were associated with the results of the genetic analyses. Personalized treatments based on the results of genetic tests were attempted, such as the administration of sodium-channel blockers in patients with <i>KCNQ2</i> or <i>SCN8A</i> variants and the implementation of a ketogenic diet in patients with <i>STXBP1</i> or <i>SCN2A</i> mutations, which demonstrated some degree of effectiveness in these patients.</p><p><strong>Conclusions: </strong>Genetic analyses may help in diagnosing the underlying etiology of NE and concurrent hypoxic brain damage, irrespective of the initial clinical features.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 5","pages":"519-528"},"PeriodicalIF":2.9,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372210/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125851","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}