Journal of Clinical Neurology最新文献

{"title":"Antisaccades in Spinocerebellar Ataxia Type 17 With Middle Cerebellar Peduncle Hyperintensities Without Hot-Cross-Bun Sign.","authors":"Hak-In Lee, Eunjin Kwon, Eungseok Oh, Seong-Hae Jeong","doi":"10.3988/jcn.2023.0397","DOIUrl":"10.3988/jcn.2023.0397","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11076195/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140857441","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":"Preclinical Replication Study of the Postsynaptic Density Protein-95 Inhibitor Nerinetide.","authors":"Ha Kim, Seungbum Choi, Dong-Eog Kim","doi":"10.3988/jcn.2023.0394","DOIUrl":"10.3988/jcn.2023.0394","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11076182/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140863951","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":"Accumulation Area of a Japanese <i>PRNP</i> P102L Variant Associated With Gerstmann-Sträussler-Scheinker Disease: The Ariake <i>PRNP</i> P102L Variant.","authors":"Kohei Suzuyama, Makoto Eriguchi, Hiromu Minagawa, Hiroyuki Honda, Keita Kai, Tetsuyuki Kitamoto, Hideo Hara","doi":"10.3988/jcn.2023.0102","DOIUrl":"10.3988/jcn.2023.0102","url":null,"abstract":"<p><strong>Background and purpose: </strong>The coast of Kyushu Island on Ariake Sea in Japan is known to be an accumulation area for patients with a proline-to-leucine substitution mutation at residue 102 (P102L) of the human prion protein gene (<i>PRNP</i>), which is associated with Gerstmann-Sträussler-Scheinker disease. We designated this geographical distribution as the \"Ariake <i>PRNP</i> P102L variant.\" The purpose of this study was to characterize the clinical features of this variant.</p><p><strong>Methods: </strong>We enrolled patients with the <i>PRNP</i> P102L variant who were followed up at the Saga University Hospital from April 2002 to November 2019. The clinical information of patients were obtained from medical records, including clinical histories, brain magnetic resonance imaging (MRI), and electroencephalography (EEG). A brain autopsy was performed on one of the participants.</p><p><strong>Results: </strong>We enrolled 24 patients from 19 family lines, including 12 males. The mean age at symptom onset was 60.6 years (range, 41-77 years). The incidence rate of the Ariake <i>PRNP</i> P102L variant was 3.32/1,000,000 people per year in Saga city. The initial symptoms were ataxia (ataxic gait or dysarthria) in 19 patients (79.2%), cognitive impairment in 3 (12.5%), and leg paresthesia in 2 (8.3%). The median survival time from symptom onset among the 18 fatal cases was 63 months (range, 23-105 months). Brain MRI revealed no localized cerebellar atrophy, but sparse diffusion-weighted imaging abnormalities were detected in 16.7% of the patients. No periodic sharp-wave complexes were identified in EEG. Neuropathological investigations revealed uni- and multicentric prion protein (PrP) plaques in the cerebral cortex, putamen, thalamus, and cerebellum of one patient. Western blot analysis revealed 8-kDa proteinase-K-resistant PrP.</p><p><strong>Conclusions: </strong>This is the first report of the accumulation area of a <i>PRNP</i> P102L variant on the coast of Ariake Sea. The Ariake <i>PRNP</i> P102L variant can be characterized by a relatively long disease duration with sparse abnormalities in brain MRI and EEG relative to previous reports. Detailed interviews to obtain information on the birthplace and the family history of related symptoms are important to diagnosing a <i>PRNP</i> P102L variant.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11076189/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139087067","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":"Alterations of Structural Network Efficiency in Early-Onset and Late-Onset Alzheimer's Disease.","authors":"Suyeon Heo, Cindy W Yoon, Sang-Young Kim, Woo-Ram Kim, Duk L Na, Young Noh","doi":"10.3988/jcn.2023.0092","DOIUrl":"10.3988/jcn.2023.0092","url":null,"abstract":"<p><strong>Background and purpose: </strong>Early- and late-onset Alzheimer's disease (EOAD and LOAD, respectively) share the same neuropathological hallmarks of amyloid and neurofibrillary tangles but have distinct cognitive features. We compared structural brain connectivity between the EOAD and LOAD groups using structural network efficiency and evaluated the association of structural network efficiency with the cognitive profile and pathological markers of Alzheimer's disease (AD).</p><p><strong>Methods: </strong>The structural brain connectivity networks of 80 AD patients (47 with EOAD and 33 with LOAD) and 57 healthy controls were reconstructed using diffusion-tensor imaging. Graph-theoretic indices were calculated and intergroup differences were evaluated. Correlations between network parameters and neuropsychological test results were analyzed. The correlations of the amyloid and tau burdens with network parameters were evaluated for the patients and controls.</p><p><strong>Results: </strong>Compared with the age-matched control group, the EOAD patients had increased global path length and decreased global efficiency, averaged local efficiency, and averaged clustering coefficient. In contrast, no significant differences were found in the LOAD patients. Locally, the EOAD patients showed decreases in local efficiency and the clustering coefficient over a wide area compared with the control group, whereas LOAD patients showed such decreases only within a limited area. Changes in network parameters were significantly correlated with multiple cognitive domains in EOAD patients, but only with Clinical Dementia Rating Sum-of-Boxes scores in LOAD patients. Finally, the tau burden was correlated with changes in network parameters in AD signature areas in both patient groups, while there was no correlation with the amyloid burden.</p><p><strong>Conclusions: </strong>The impairment of structural network efficiency and its effects on cognition may differ between EOAD and LOAD.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11076196/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139706862","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":"Cerebellar Cavernous Angioma With Symptomatic Hemorrhage Mimicking Different Sequential Peripheral Vestibular Disorders.","authors":"Salvatore Martellucci, Andrea Castellucci, Pasquale Malara, Marco Mandalà","doi":"10.3988/jcn.2023.0437","DOIUrl":"10.3988/jcn.2023.0437","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11076198/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140853145","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":"Central and Peripheral Motor Conduction Studies by Single-Pulse Magnetic Stimulation.","authors":"Hideyuki Matsumoto, Yoshikazu Ugawa","doi":"10.3988/jcn.2023.0520","DOIUrl":"10.3988/jcn.2023.0520","url":null,"abstract":"<p><p>Single-pulse magnetic stimulation is the simplest type of transcranial magnetic stimulation (TMS). Muscle action potentials induced by applying TMS over the primary motor cortex are recorded with surface electromyography electrodes, and they are called motor-evoked potentials (MEPs). The amplitude and latency of MEPs are used for various analyses in clinical practice and research. The most commonly used parameter is the central motor conduction time (CMCT), which is measured using motor cortical and spinal nerve stimulation. In addition, stimulation at the foramen magnum or the conus medullaris can be combined with conventional CMCT measurements to evaluate various conduction parameters in the corticospinal tract more precisely, including the cortical-brainstem conduction time, brainstem-root conduction time, cortical-conus motor conduction time, and cauda equina conduction time. The cortical silent period is also a useful parameter for evaluating cortical excitability. Single-pulse magnetic stimulation is further used to analyze not only the central nervous system but also the peripheral nervous system, such as for detecting lesions in the proximal parts of peripheral nerves. In this review article we introduce four types of single-pulse magnetic stimulation-of the motor cortex, spinal nerve, foramen magnum, and conus medullaris-that are useful for the diagnosis, elucidation of pathophysiology, and evaluation of clinical conditions and therapeutic effects. Single-pulse magnetic stimulation is a clinically useful technique that all neurologists should learn.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11076191/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140864779","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":"Treatment Outcome After Switching From Galcanezumab to Fremanezumab in Patients With Migraine.","authors":"Michelle Sojung Youn, Namoh Kim, Mi Ji Lee, Manho Kim","doi":"10.3988/jcn.2023.0311","DOIUrl":"10.3988/jcn.2023.0311","url":null,"abstract":"<p><strong>Background and purpose: </strong>Monoclonal antibodies (mAbs) targeting calcitonin-gene-related peptide (CGRP) or its receptor (anti-CGRP-R) have been widely administered to patients with migraine who show inadequate responses to preventive medications. Among patients in whom a particular anti-CGRP-R mAb is ineffective, switching between different anti-CGRP-R mAbs can be the next option. Few studies have investigated treatment outcomes for antibody switching, especially between mAbs with the same target of the CGRP ligand. We aimed to determine the treatment outcome after switching between two anti-CGRP mAbs (galcanezumab to fremanezumab).</p><p><strong>Methods: </strong>We identified migraine patients in a prospective headache clinic registry who received galcanezumab for ≥3 months and were switched to fremanezumab for a further ≥3 months at a single university hospital. We defined a treatment response as a ≥50% reduction in the number of days with a moderate or severe headache at the third month of treatment relative to baseline. The treatment response after switching to fremanezumab was compared with the initial treatment response to galcanezumab.</p><p><strong>Results: </strong>Among 21 patients identified in the registry, 7 (33.3%) were initial responders to galcanezumab. After switching to fremanezumab, 7 (33.3%) showed a treatment response. The treatment response rate was 28.6% in the initial responders and 71.4% in the nonresponders to galcanezumab (<i>p</i>>0.999).</p><p><strong>Conclusions: </strong>Switching between anti-CGRP mAbs (galcanezumab to fremanezumab) yielded a treatment outcome comparable to that reported previously when switching from an anti-CGRP-R mAb (erenumab) to an anti-CGRP mAb (galcanezumab or fremanezumab). The treatment response to fremanezumab seems to be independent of the prior treatment response to galcanezumab. Our findings suggest that switching to another anti-CGRP mAb can be considered when a particular anti-CGRP mAb is ineffective or intolerable.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11076194/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140855340","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":"Survey of the Knowledge, Attitudes, and Practices of Neurologists Regarding Exercise in Parkinson's Disease.","authors":"Myung Jun Lee, Jinse Park, Dong-Woo Ryu, Dallah Yoo, Sang-Myung Cheon","doi":"10.3988/jcn.2023.0344","DOIUrl":"https://doi.org/10.3988/jcn.2023.0344","url":null,"abstract":"BACKGROUND AND PURPOSE\u0000Exercise and physiotherapy can exert potentially beneficial effects on the motor and nonmotor features of Parkinson's disease (PD). We conducted an e-mail survey to assess the knowledge, attitudes, and practices of neurologists regarding exercise among patients with PD.\u0000\u0000\u0000METHODS\u0000A total of 222 neurologists from the Korean Movement Disorder Society and the Korean Society of Neurologists completed the survey and were classified into 4 clusters using the k-means clustering algorithm based on their institute types, the proportions of PD patients in their clinics, and the number of years working as neurologists.\u0000\u0000\u0000RESULTS\u0000Specialists working at referral hospitals (Clusters 1 and 2) were more confident than general neurologists (Clusters 3 and 4) about exercise improving the general motor features of PD. Specialists recommended more-frequent intense exercise compared with physicians not working at referral hospitals. The specialists in Cluster 1, representing >50% of PD patients in the clinics at referral hospitals, recommended exercise regardless of the disease stage, whereas the general neurologists in Clusters 3 and 4 recommended low-intensity exercise at an early stage of disease. Although most of the respondents agreed with the need for PD patients to exercise, less than half had prescribed rehabilitation or physiotherapy. More than 90% of the respondents answered that developing an exercise/physiotherapy protocol for PD would be helpful.\u0000\u0000\u0000CONCLUSIONS\u0000Specialists were more confident than general neurologists about the effect of exercise and recommended more-intense activities regardless of the disease stage. These results highlight the need to develop clinical practice guidelines and PD-specialized exercise protocols to provide optimal care for PD patients.","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140751945","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of Mycoplasma hominis Infection by Nanopore 16S rDNA Amplicon Sequencing in Epidural Empyema After Neurovascular Surgery: A Case Report.","authors":"Seolah Lee, Yoonhyuk Jang, Jangsup Moon, Kon Chu","doi":"10.3988/jcn.2023.0300","DOIUrl":"https://doi.org/10.3988/jcn.2023.0300","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140750958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and Genetic Characteristics Associated With Survival Outcome in Late-Onset Huntington's Disease in South Korea.","authors":"Yun Su Hwang, S. Jo, Gu-Hwan Kim, J. Lee, Ho-Sung Ryu, Eungseok Oh, Seung-Hwan Lee, Young Seo Kim, S. Chung","doi":"10.3988/jcn.2023.0329","DOIUrl":"https://doi.org/10.3988/jcn.2023.0329","url":null,"abstract":"BACKGROUND AND PURPOSE\u0000The onset of Huntington's disease (HD) usually occurs before the age of 50 years, and the median survival time from onset is 15 years. We investigated survival in patients with late-onset HD (LoHD) (age at onset ≥60 years) and the associations of the number of mutant CAG repeats and age at onset (AAO) with survival in patients with HD.\u0000\u0000\u0000METHODS\u0000Patients with genetically confirmed HD at six referral centers in South Korea between 2000 and 2020 were analyzed retrospectively. Baseline demographic, clinical, and genetic characteristics and the survival status as at December 2020 were collected.\u0000\u0000\u0000RESULTS\u0000Eighty-seven patients were included, comprising 26 with LoHD (AAO=68.77±5.91 years, mean±standard deviation; 40.54±1.53 mutant CAG repeats) and 61 with common-onset HD (CoHD) (AAO=44.12±8.61 years, 44.72±4.27 mutant CAG repeats). The ages at death were 77.78±7.46 and 53.72±10.86 years in patients with LoHD and CoHD, respectively (p<0.001). The estimated survival time was 15.21±2.49 years for all HD patients, and 10.74±1.95 and 16.15±2.82 years in patients with LoHD and CoHD, respectively. More mutant CAG repeats and higher AAO were associated with shorter survival (hazard ratio [HR]=1.05, 95% confidence interval [CI]=1.01-1.09, p=0.019; and HR=1.17, 95% CI=1.03-1.31, p=0.013; respectively) for all HD patients. The LoHD group showed no significant factors associated with survival after disease onset, whereas the number of mutant CAG repeats had a significant effect (HR=1.12, 95% CI=1.01-1.23, p=0.034) in the CoHD group.\u0000\u0000\u0000CONCLUSIONS\u0000Survival after disease onset was shorter in patients with LoHD than in those with CoHD. More mutant CAG repeats and higher AAO were associated with shorter survival in patients with HD.","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140754074","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}