Journal of Clinical Neurology最新文献

{"title":"Cardiovascular Autonomic Dysfunction Before and After Chemotherapy in Cancer Patients.","authors":"So Young Yoon, Jeeyoung Oh","doi":"10.3988/jcn.2024.0221","DOIUrl":"10.3988/jcn.2024.0221","url":null,"abstract":"<p><p>Complications that occur during cancer therapy have emerged as a major contributor to the poor quality of life experienced by cancer patients as they live longer due to improved treatments. Many studies have investigated chemotherapy-induced peripheral neuropathy, but few have investigated the autonomic nervous system. Cardiovascular autonomic dysfunction (CAD) contributes to the distressing symptoms experienced by cancer patients, and it is also related to poor treatment outcomes. CAD has a multifactorial etiology in patients with cancer: it can be caused by the cancer itself, chemotherapy or radiation therapy, or other comorbidities. Its symptoms are nonspecific, and they include orthostatic hypotension, resting tachycardia, dizziness, chest tightness, and exertional dyspnea. It is important to suspect CAD and perform therapeutic interventions in a clinical context, because a patient who is more frail is less like to endure the treatment process. The quality of life of patients receiving active cancer treatments can be improved by evaluating the risk of CAD before and after chemotherapy, and combining both nonpharmacological and pharmacological management. Here we review the prevalence, pathogenesis, diagnosis, and treatment of CAD, which is the most common and a sometimes serious symptom in cancer patients.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543394/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142590910","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":"Erratum: Development and Validation of the Korean Version of the Edinburgh Cognitive and Behavioral Amyotrophic Lateral Sclerosis Screen (ECAS-K).","authors":"Jeeun Lee, Ahwon Kim, Seok-Jin Choi, Eric Cho, Jaeyoung Seo, Seong-Il Oh, Jinho Jung, Ji-Sun Kim, Jung-Joon Sung, Sharon Abrahams, Yoon-Ho Hong","doi":"10.3988/jcn.2022.0403e","DOIUrl":"10.3988/jcn.2022.0403e","url":null,"abstract":"<p><p>This corrects the article on p. 454 in vol. 19, PMID: 37488957.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543386/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142590928","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":"Novel <i>MYORG</i> Variant Linked to Primary Familial Brain Calcification.","authors":"Andreea Catalina Cristea, José Luís Pérez-Castrillón, Ricardo Usategui-Martin","doi":"10.3988/jcn.2024.0252","DOIUrl":"10.3988/jcn.2024.0252","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543392/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142590992","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":"Syncope in Migraine: A Genome-Wide Association Study Revealing Distinct Genetic Susceptibility Variants Across Subtypes.","authors":"Wei Lin, Yi Liu, Chih-Sung Liang, Po-Kuan Yeh, Chia-Kuang Tsai, Kuo-Sheng Hung, Yu-Chin An, Fu-Chi Yang","doi":"10.3988/jcn.2024.0156","DOIUrl":"10.3988/jcn.2024.0156","url":null,"abstract":"<p><strong>Background and purpose: </strong>Syncope is characterized by the temporary loss of consciousness and is commonly associated with migraine. However, the genetic factors that contribute to this association are not well understood. This study investigated the specific genetic loci that make patients with migraine more susceptible to syncope as well as the genetic factors contributing to syncope and migraine comorbidity in a Han Chinese population in Taiwan.</p><p><strong>Methods: </strong>A genome-wide association study was applied to 1,724 patients with migraine who visited a tertiary hospital in Taiwan. The patients were genotyped using the Affymetrix Axiom Genome-Wide TWB 2.0 array and categorized into the following subgroups based on migraine type: episodic migraine, chronic migraine, migraine with aura, and migraine without aura. Multivariate regression analyses were used to assess the relationships between specific single-nucleotide polymorphisms (SNPs) and the clinical characteristics in patients with syncope and migraine comorbidity.</p><p><strong>Results: </strong>In patients with migraine, SNPs were observed to be associated with syncope. In particular, the rs797384 SNP located in the intron region of <i>LOC102724945</i> was associated with syncope in all patients with migraine. Additionally, four SNPs associated with syncope susceptibility were detected in the nonmigraine control group, and these SNPs differed from those in the migraine group, suggesting distinct underlying mechanisms. Furthermore, the rs797384 variant in the intron region of <i>LOC102724945</i> was associated with the score on the Beck Depression Inventory.</p><p><strong>Conclusions: </strong>The novel genetic loci identified in this study will improve our understanding of the genetic basis of syncope and migraine comorbidity.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543389/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142590996","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 Cues for the Early Diagnosis of Transthyretin-Related Polyneuropathy.","authors":"Fabiola Escolano-Lozano, Violeta Dimova, Panoraia Baka, Christian Geber, Frank Birklein","doi":"10.3988/jcn.2024.0246","DOIUrl":"10.3988/jcn.2024.0246","url":null,"abstract":"<p><strong>Background and purpose: </strong>The estimated prevalence of hereditary transthyretin-related familial amyloid polyneuropathy (TTR-FAP) and the small number of known patients in Germany indicate that many patients with TTR-FAP remain undiagnosed, and may instead be classified as \"idiopathic.\" The aim of this study was to identify biomarkers for detecting TTR-FAP among a cohort of patients with idiopathic polyneuropathy (PNP).</p><p><strong>Methods: </strong>Clinical evaluations (including the Neuropathy Impairment Score and Neuropathy Disability Score), nerve conduction studies (NCSs), quantitative sensory testing, and autonomic function tests were performed on 23 patients with TTR-FAP and 89 with idiopathic PNP. Discriminant analysis was then performed to identify variables useful for predicting TTR-FAP.</p><p><strong>Results: </strong>Patients with TTR-FAP had paresis of the finger and thumb muscles, and reduced vibration perception and increased pressure pain in the upper and lower extremities. The NCSs showed that action potentials were smaller in the median, ulnar (both motor and sensory), and sural nerves in TTR-FAP. The sensory nerve conduction velocity was also reduced in the ulnar nerve. Autonomic neuropathy was confirmed by reduced sympathetic skin responses in the hands and feet in TTR-FAP. Multivariate discriminant analysis revealed that finger abduction strength, sensory ulnar nerve action potential amplitude, and vibration detection and pressure pain thresholds in the upper extremities were sufficient to correctly identify TTR-FAP in 81.3% of cases.</p><p><strong>Conclusions: </strong>Detailed clinical and neurophysiological investigations of standard parameters in the upper limb may help to identify the otherwise-rare TTR-FAP.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543390/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142590919","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 Ataxia, Neuropathy, and Vestibular Areflexia Syndrome: The First Genetically Confirmed Case in South Korea.","authors":"So-Yeon Yun, Seo Young Choi, Jin-Ok Lee, Hyo-Jung Kim, Ji-Soo Kim","doi":"10.3988/jcn.2024.0232","DOIUrl":"10.3988/jcn.2024.0232","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543391/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142590912","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":"Solute Carrier Family 2 Member 1 Gene Mutation Presenting as Adult-Onset Paroxysmal Exercise-Induced Dyskinesia Without Epilepsy.","authors":"Yun Su Hwang, Eungseok Oh","doi":"10.3988/jcn.2024.0349","DOIUrl":"10.3988/jcn.2024.0349","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543396/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142590994","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 Siponimod on Clinical and Radiological Parameters of Secondary Progressive Multiple Sclerosis: A Real-World Prospective Study.","authors":"Konstantina Stavrogianni, Dimitrios K Kitsos, Vasileios Giannopapas, Maria-Ioanna Stefanou, Niki Christouli, Vassiliki Smyrni, Athanasios K Chasiotis, Alexandra Akrivaki, Evangelia Dimitriadou, Maria Chondrogianni, Georgios Tsivgoulis, Sotirios Giannopoulos","doi":"10.3988/jcn.2024.0149","DOIUrl":"10.3988/jcn.2024.0149","url":null,"abstract":"<p><strong>Background and purpose: </strong>Secondary progressive multiple sclerosis (SPMS) presents with a challenging clinical phenotype, and siponimod has a potential to treat the active clinical phenotype of this disease. This single-center longitudinal study aimed to determine the therapeutic effects of siponimod in patients with active SPMS over 12 months.</p><p><strong>Methods: </strong>The clinical and radiological parameters of 50 patients with active SPMS treated using siponimod were assessed at baseline and after a 1-year follow-up period using the annual relapse rate (ARR), the Expanded Disability Status Scale (EDSS), the occurrence of gadolinium-enhanced lesion (GdE+), the Modified Fatigue Impact Scale (MFIS), and the Symbol Digit Modalities Test. The urine bladder postvoid residual (PVR) volume was also measured in a subcohort of 39 participants. Participants with an EDSS score ≥5.0 at baseline were finally assessed separately in prespecified subgroup analyses.</p><p><strong>Results: </strong>There were significant reductions in ARR (<i>p</i><0.001), GdE+ (<i>p</i><0.001), and MFIS score (<i>p</i>=0.001) during the follow-up period. The progression of physical and cognitive disabilities remained stable (<i>p</i>>0.05). The PVR-volume analysis revealed a significant decrease in urine bladder PVR volume (<i>p</i><0.001). These observations were consistent for the subgroup with EDSS score ≥5.0.</p><p><strong>Conclusions: </strong>Siponimod demonstrated efficacy in reducing ARR, GdE+, fatigue levels, and PVR volume, while maintaining stability in the cognitive and physical disability statuses of patients with SPMS. Similar findings were documented in the subgroup with EDSS score ≥5.0.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543385/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142590932","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":"Association Between Vertebral Arterial Tortuosity and Aneurysm Growth in Intracranial Vertebral Artery Dissection.","authors":"Jae Young Park, Sang Hee Ha, Soo Jeong, Jun Young Chang, Dong-Wha Kang, Sun U Kwon, Bum Joon Kim","doi":"10.3988/jcn.2024.0139","DOIUrl":"10.3988/jcn.2024.0139","url":null,"abstract":"<p><strong>Background and purpose: </strong>An intracranial vertebral artery dissecting aneurysm (iVADA) increases the risk of future subarachnoid hemorrhage, which is a severe complication with high rebleeding rates and poor outcomes. Identifying potential risk factors associated with iVADA growth is crucial for their effective management.</p><p><strong>Methods: </strong>This observational study was carried out at a single center and included patients who had been diagnosed with iVADA based on neuroimaging findings. We divided the patients into two groups: with and without iVADA growth. Growth was defined as any enlargement of a dilated region or a morphological change in follow-up imaging. We measured the vertebral artery tortuosity index (VTI) in the contralateral vertebral artery (VA), defined as its actual length divided by its straight length. We investigated the factors associated with iVADA growth.</p><p><strong>Results: </strong>This study included 124 patients. The median follow-up period was 7 months. We observed iVADA growth in 54 patients (43.5%), who were more likely to be current smokers (33.3% vs. 14.3%, <i>p</i>=0.012) and have a higher VTI (1.14±0.11 [mean±standard deviation] vs. 1.06±0.12, <i>p</i>=0.035) compared with those without iVADA growth. A multivariate analysis revealed that the VTI (adjusted odds ratio=28.490, 95% confidence interval=1.025-792.046, <i>p</i>=0.048) was independently associated with iVADA growth.</p><p><strong>Conclusions: </strong>This study has identified an independent association between VA tortuosity and iVADA growth.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543393/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142590895","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":"Blood Pressure Variability and Ocular Vestibular-Evoked Myogenic Potentials Are Independently Associated With Orthostatic Hypotension.","authors":"Keun-Tae Kim, Jeong-Heon Lee, Jun-Pyo Hong, Jin-Woo Park, Sun-Uk Lee, Euyhyun Park, Byung-Jo Kim, Ji-Soo Kim","doi":"10.3988/jcn.2024.0092","DOIUrl":"10.3988/jcn.2024.0092","url":null,"abstract":"<p><strong>Background and purpose: </strong>We delineated the association between otolithic dysfunction and blood pressure (BP) variability.</p><p><strong>Methods: </strong>We prospectively recruited 145 consecutive patients (age=71 [59-79] years, median [interquartile range]; 76 females) with orthostatic intolerance between December 2021 and December 2023 at a tertiary hospital in South Korea. Each patient underwent evaluations of cervical and ocular vestibular-evoked myogenic potentials (oVEMPs), 24-h noninvasive ambulatory BP monitoring (ABPM), and a head-up tilt-table test using the Finometer device. As measures of BP variability, the standard deviations (SDs) of the systolic BP (SBP_SD) and the diastolic BP were calculated based on serial ABPM recordings. Patients were divided into those with orthostatic hypotension (OH, <i>n</i>=68) and those with a normal head-up tilt-table test despite orthostatic intolerance (NOI, <i>n</i>=77) groups.</p><p><strong>Results: </strong>A multivariable logistic regression analysis showed that OH was associated with bilateral oVEMP abnormalities (<i>p</i>=0.021), SBP_SD (<i>p</i>=0.012), and female sex (<i>p</i>=0.004). SBP_SD was higher in patients with OH than in those with NOI (<i>p</i><0.001), and was not correlated with n1-p1 amplitude (<i>p</i>=0.491) or normalized p13-n23 amplitude (<i>p</i>=0.193) in patients with OH. The sensitivity and specificity for differentiating OH from NOI were 72.1% and 67.5%, respectively, at a cutoff value of 12.7 mm Hg for SBP_SD, with an area under the receiver operating characteristic curve of 0.73.</p><p><strong>Conclusions: </strong>Bilaterally deficient oVEMP responses may be associated with OH regardless of 24-h BP variability, reflecting the integrity of the otolith-autonomic reflex during orthostasis. Alternatively, 24-h BP variability is predominantly regulated by the baroreflex, which also participates in securing orthostatic tolerance complementary to the vestibulo-autonomic reflex.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11543387/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142590908","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}