Clinical Neurophysiology Practice最新文献

{"title":"Midline non-ictal rhythmic waveforms as possible electroencephalographic biomarkers of Smith-Klingsmore syndrome in children","authors":"Valerio Simonelli ,&nbsp;Anna Rita Ferrari ,&nbsp;Roberta Battini ,&nbsp;Paola Brovedani ,&nbsp;Emanuele Bartolini","doi":"10.1016/j.cnp.2024.02.001","DOIUrl":"https://doi.org/10.1016/j.cnp.2024.02.001","url":null,"abstract":"<div><h3>Introduction</h3><p>Pathogenic variants of the MTOR gene result in the Smith-Kingsmore syndrome, whose phenotypical spectrum includes facial dysmorphisms and neurological features. Expressivity is variable, patients exhibit a combination of intellectual disability, macrocephaly and epilepsy. The diagnosis can be missed, failing to detect the causative pathogenic mutation in patients with somatic mosaicism or even skipping to analyze <em>MTOR</em> when the phenotype is not completely expressed.</p></div><div><h3>Case study</h3><p>Herein, we report two children harboring the same MTOR recurring mutation (c.5395G&gt;A/p.Glu1799Lys) whose EEG displayed a peculiar combination of midline rhythmic waveforms and asynchronous spike-and-wave discharges with anterior fast activity in sleep and wake. <strong>Conclusion</strong>: We suggest these features might be considered as possible hallmarks of the syndrome and could aid to expedite the diagnosis when the phenotype is incomplete.</p></div>","PeriodicalId":45697,"journal":{"name":"Clinical Neurophysiology Practice","volume":"9 ","pages":"Pages 102-105"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2467981X2400009X/pdfft?md5=3a1227099809ea34332686792ca17474&pid=1-s2.0-S2467981X2400009X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140067182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Examining short interval intracortical inhibition with different transcranial magnetic stimulation-induced current directions in ALS","authors":"Roisin McMackin ,&nbsp;Yasmine Tadjine ,&nbsp;Antonio Fasano ,&nbsp;Matthew Mitchell ,&nbsp;Mark Heverin ,&nbsp;Friedemann Awiszus ,&nbsp;Bahman Nasseroleslami ,&nbsp;Richard G. Carson ,&nbsp;Orla Hardiman","doi":"10.1016/j.cnp.2024.03.001","DOIUrl":"10.1016/j.cnp.2024.03.001","url":null,"abstract":"<div><h3>Objective</h3><p>To establish if induced current direction across the motor cortex alters the sensitivity of transcranial magnetic stimulation (TMS)-evoked short-interval intracortical inhibition (SICI) as an ALS biomarker.</p></div><div><h3>Methods</h3><p>Threshold tracking-TMS was undertaken in 35 people with ALS and 39 controls. Using a coil orientation which induces posterior-anterior (PA)-directed current across the motor cortex, SICI (1 ms and 3 ms interstimulus intervals) and intracortical facilitation (ICF, 10 ms interstimulus interval) were recorded. SICI_3ms was also recorded using a coil orientation which induces anterior-posterior (AP)-directed current across the motor cortex.</p></div><div><h3>Results</h3><p>At group level, SICI_3ms-PA (AUROC = 0.7), SICI_3ms-AP (AUROC = 0.8) and SICI_1ms (AUROC = 0.66) were substantially lower in those with ALS, although there was considerable interindividual heterogeneity. Averaging across interstimulus intervals (ISIs) marginally improved SICI_PA sensitivity (AUROC = 0.76). Averaging SICI values across ISIs and orientations into a single SICI measure did not substantially improve sensitivity (AUROC = 0.81) compared to SICI_3ms-AP alone. SICI_3ms-AP and SICI_3ms-PA did not significantly correlate (rho = 0.19, p = 0.313), while SICI_1ms-PA and SICI_3ms-PA did (rho = 0.37, p = 0.006). Further, those with ALS with the lowest SICI_3ms-PA were not those with the lowest SICI_3ms-AP. ICF was similar between groups (AUROC = 0.50).</p></div><div><h3>Conclusions</h3><p>SICI_PA and SICI_AP are uncorrelated measures of motor cortical inhibitory functions which are useful as distinct, unequally affected, measures of disinhibition in ALS.</p></div><div><h3>Significance</h3><p>Examining both SICI_PA and SICI_AP may facilitate more comprehensive characterisation of motor cortical disinhibition in ALS.</p></div>","PeriodicalId":45697,"journal":{"name":"Clinical Neurophysiology Practice","volume":"9 ","pages":"Pages 120-129"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2467981X2400012X/pdfft?md5=1fae5548e5c18ff04a29ad5b5d8090ce&pid=1-s2.0-S2467981X2400012X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140272102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"History of ALS and the competing theories on pathogenesis: IFCN handbook chapter","authors":"Andrew Eisen ,&nbsp;Steve Vucic ,&nbsp;Hiroshi Mitsumoto","doi":"10.1016/j.cnp.2023.11.004","DOIUrl":"https://doi.org/10.1016/j.cnp.2023.11.004","url":null,"abstract":"<div><p>Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disorder of the human motor system, first described in the 19th Century. The etiology of ALS appears to be multifactorial, with a complex interaction of genetic, epigenetic, and environmental factors underlying the onset of disease. Importantly, there are no known naturally occurring animal models, and transgenic mouse models fail to faithfully reproduce ALS as it manifests in patients. Debate as to the site of onset of ALS remain, with three competing theories proposed, including (i) the <em>dying-forward hypothesis</em>, whereby motor neuron degeneration is mediated by hyperexcitable corticomotoneurons via an anterograde transsynaptic excitotoxic mechanism, (ii) <em>dying-back hypothesis,</em> proposing the ALS begins in the peripheral nervous system with a toxic factor(s) retrogradely transported into the central nervous system and mediating upper motor neuron dysfunction, and (iii) <em>independent hypothesis</em>, suggesting that upper and lower motor neuron degenerated independently. Transcranial magnetic stimulation studies, along with pathological and genetic findings have supported the dying forward hypothesis theory, although the science is yet to be settled. The review provides a historical overview of ALS, discusses phenotypes and likely pathogenic mechanisms.</p></div>","PeriodicalId":45697,"journal":{"name":"Clinical Neurophysiology Practice","volume":"9 ","pages":"Pages 1-12"},"PeriodicalIF":1.7,"publicationDate":"2023-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2467981X2300032X/pdfft?md5=1663dee64e5520a61798aaea89ec82c4&pid=1-s2.0-S2467981X2300032X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138838442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The test–retest reliability of large and small fiber nerve excitability testing with threshold tracking","authors":"Hossein Pia ,&nbsp;Zahra Nochi ,&nbsp;Alexander Gramm Kristensen ,&nbsp;Bernhard Pelz ,&nbsp;Marcus Goetz ,&nbsp;Jan-Niclas Hoeink ,&nbsp;Anthony James Blockeel ,&nbsp;André Mouraux ,&nbsp;Andrea Truini ,&nbsp;Nanna Brix Finnerup ,&nbsp;Keith Geoffrey Phillips ,&nbsp;Rolf-Detlef Treede ,&nbsp;Hatice Tankisi","doi":"10.1016/j.cnp.2023.03.003","DOIUrl":"10.1016/j.cnp.2023.03.003","url":null,"abstract":"<div><h3>Objective</h3><p>Standard nerve excitability testing (NET) predominantly assesses Aα- and Aβ-fiber function, but a method examining small afferents would be of great interest in pain studies. Here, we examined the properties of a novel perception threshold tracking (PTT) method that preferentially activates Aδ-fibers using weak currents delivered by a novel multipin electrode and compared its reliability with NET.</p></div><div><h3>Methods</h3><p>Eighteen healthy subjects (mean age:34.06 ± 2.0) were examined three times with motor and sensory NET and PTT in morning and afternoon sessions on the same day (intra-day reliability) and after a week (inter-day reliability). NET was performed on the median nerve, while PTT stimuli were delivered through a multipin electrode located on the forearm. During PTT, subjects indicated stimulus perception via a button press and the intensity of the current was automatically increased or decreased accordingly by Qtrac software. This allowed changes in the perception threshold to be tracked during strength-duration time constant (SDTC) and threshold electrotonus protocols.</p></div><div><h3>Results</h3><p>The coefficient of variation (CoV) and interclass coefficient of variation (ICC) showed good–excellent reliability for most NET parameters. PTT showed poor reliability for both SDTC and threshold electrotonus parameters. There was a significant correlation between large (sensory NET) and small (PTT) fiber SDTC when all sessions were pooled (r = 0.29, p = 0.03).</p></div><div><h3>Conclusions</h3><p>Threshold tracking technique can be applied directly to small fibers via a psychophysical readout, but with the current technique, the reliability is poor.</p></div><div><h3>Significance</h3><p>Further studies are needed to examine whether Aβ-fiber SDTC may be a surrogate biomarker for peripheral nociceptive signalling.</p></div>","PeriodicalId":45697,"journal":{"name":"Clinical Neurophysiology Practice","volume":"8 ","pages":"Pages 71-78"},"PeriodicalIF":1.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9e/c9/main.PMC10172996.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9469092","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acknowledgement to reviewers","authors":"","doi":"10.1016/j.cnp.2023.11.001","DOIUrl":"10.1016/j.cnp.2023.11.001","url":null,"abstract":"","PeriodicalId":45697,"journal":{"name":"Clinical Neurophysiology Practice","volume":"8 ","pages":"Page 235"},"PeriodicalIF":1.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2467981X23000276/pdfft?md5=0cceeb37104a30eed6d828d5c5dc846c&pid=1-s2.0-S2467981X23000276-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135614016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Keeping up appearances: Don’t frown upon the effects of botulinum toxin injections in facial muscles","authors":"Anna Rostedt Punga ,&nbsp;Mohammad Alimohammadi ,&nbsp;Maarika Liik","doi":"10.1016/j.cnp.2023.05.005","DOIUrl":"10.1016/j.cnp.2023.05.005","url":null,"abstract":"<div><p>Aesthetic use of low doses of Botulinum toxin (BoNT) injections into the facial muscles has become a leading non-surgical aesthetic treatment worldwide to reduce facial wrinkles, including glabellar lines, forehead lines, and periorbital wrinkles. Within these aesthetic applications, BoNT injections intend to reduce and prevent wrinkles, and the recommended usage of 2 years is often exceeded, which may result in atrophy of the injected muscles. The long-term effects of BoNT injections in the facial muscles and the evidence of diffusion of BoNT to surrounding muscles are obvious pitfalls and challenges for clinical neurophysiologists in differential diagnosing neuromuscular transmission failures. Also, this is further complicated by the risk of developing side effects upon permanent chemical denervation of facial muscles, with less possibility for reinnervation.</p><p>This review summarizes the known long-term effects of BoNT over time in different facial muscles and the use of objective electrophysiological measures to evaluate these. A better understanding of the long-term effects of BoNT is essential to avoid misdiagnosing other neuromuscular disorders.</p></div>","PeriodicalId":45697,"journal":{"name":"Clinical Neurophysiology Practice","volume":"8 ","pages":"Pages 169-173"},"PeriodicalIF":1.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10480586/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10186527","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Some reasons for frowning upon the effects of botulinum toxin injections in facial muscles","authors":"Hacer Erdem Tilki","doi":"10.1016/j.cnp.2023.08.001","DOIUrl":"10.1016/j.cnp.2023.08.001","url":null,"abstract":"","PeriodicalId":45697,"journal":{"name":"Clinical Neurophysiology Practice","volume":"8 ","pages":"Pages 174-176"},"PeriodicalIF":1.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/54/d7/main.PMC10480585.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10186531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Short-term effect of coil handle orientations on fMRI-guided rTMS on insomnia: A case report","authors":"Zi-Jian Feng ,&nbsp;Qiu-Ying Song ,&nbsp;Yu Han ,&nbsp;Zi-Yu Wei ,&nbsp;Cong Fu ,&nbsp;Yu-Feng Zang","doi":"10.1016/j.cnp.2023.08.004","DOIUrl":"10.1016/j.cnp.2023.08.004","url":null,"abstract":"<div><h3>Introduction</h3><p>The coil handle orientation plays a pivotal role in the therapeutic efficacy of repetitive transcranial magnetic stimulation (rTMS). However, there is currently no consensus on the optimal individualized coil handle orientation, especially for non-motor areas.</p></div><div><h3>Case presentation</h3><p>The present case reported a short-term effect of functional connectivity (FC)-guided rTMS with coil handle posterior-anterior 45° (PA45°) and posterior-anterior 135° (PA135°) on a patient with insomnia. Notably, in this case, the PA45° orientation was nearly perpendicular to the adjacent sulcus, while the PA135° orientation was almost parallel to it. Local brain activity and functional connectivity were assessed using resting-state functional magnetic resonance imaging (RS-fMRI). Additionally, motor evoked potentials (MEPs) were captured both pre and post-rTMS sessions.</p></div><div><h3>Findings</h3><p>The coil handle orientation PA45° outperformed the PA135° in both RS-fMRI and MEP outcomes. Moreover, a 9-day rTMS treatment led to discernible improvements in symptoms of depression and anxiety, complemented by a modest enhancement in sleep quality.</p></div>","PeriodicalId":45697,"journal":{"name":"Clinical Neurophysiology Practice","volume":"8 ","pages":"Pages 194-196"},"PeriodicalIF":1.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44868391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The effect of acute respiratory events and respiratory stimulants on EEG-recorded brain activity in neonates: A systematic review","authors":"Fatima Usman ,&nbsp;Simon Marchant ,&nbsp;Luke Baxter ,&nbsp;Hamisu M. Salihu ,&nbsp;Muktar H. Aliyu ,&nbsp;Eleri Adams ,&nbsp;Caroline Hartley","doi":"10.1016/j.cnp.2023.11.002","DOIUrl":"10.1016/j.cnp.2023.11.002","url":null,"abstract":"<div><h3>Objective</h3><p>We conducted a systematic review to investigate electroencephalography (EEG) changes during periods of acute respiratory events such as apnoea and the effect of respiratory stimulants on EEG features in infants.</p></div><div><h3>Methods</h3><p>Studies examining respiration and EEG-recorded brain activity in human neonates between 28 and 42 weeks postmenstrual age were included. Two reviewers independently screened all records and included studies were assessed using the Joanna Briggs Institute Critical Appraisal Tool. The protocol was registered in PROSPERO (CRD42022339873).</p></div><div><h3>Results</h3><p>We identified 14 studies with a total of 534 infants. Nine articles assessed EEG changes in relation to apnoea, one assessed hiccups, and four investigated the effect of respiratory stimulants. The relationship between neonatal apnoea and EEG changes was inconsistent; EEG suppression and decreased amplitude and frequency were observed during some, but not all, apnoeas. Respiratory stimulants increased EEG continuity compared with before use.</p></div><div><h3>Conclusions</h3><p>Current studies in this area are constrained by small sample sizes. Diverse exposure definitions and outcome measures impact inference.</p></div><div><h3>Significance</h3><p>This review highlights the need for further work; understanding the relationship between respiration and the developing brain is key to mitigating the long-term effects of apnoea.</p></div>","PeriodicalId":45697,"journal":{"name":"Clinical Neurophysiology Practice","volume":"8 ","pages":"Pages 203-225"},"PeriodicalIF":1.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2467981X23000288/pdfft?md5=4ae5b3c83b07fe67579ea70360d2dde7&pid=1-s2.0-S2467981X23000288-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135566589","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nerve ultrasound: Unravelling the different patterns of nerve enlargement in CIDP subtypes","authors":"Cheng-Yin Tan,&nbsp;Mingsheng Liu,&nbsp;Nortina Shahrizaila","doi":"10.1016/j.cnp.2023.11.003","DOIUrl":"https://doi.org/10.1016/j.cnp.2023.11.003","url":null,"abstract":"","PeriodicalId":45697,"journal":{"name":"Clinical Neurophysiology Practice","volume":"8 ","pages":"Pages 226-227"},"PeriodicalIF":1.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2467981X2300029X/pdfft?md5=592814db10991fb45387fd23c1bd3a67&pid=1-s2.0-S2467981X2300029X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138557586","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}